Publications for Ann Nordgren
Article
| 1 |
Johansson J, Lideus S, Frykholm C, Gunnarsson C, Mihalic F, Gudmundsson S, Ekvall S, Molin AM, Pham M, Vihinen M, Lagerstedt-Robinson K, Nordgren A, Jemth P, Ameur A, Anneren G, Wilbe M, Bondeson ML. Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions. EUROPEAN JOURNAL OF HUMAN GENETICS 2024 32:3 333-341
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| 2 |
Pechhacker MKG, Molnar A, Pacheco NP, Thonberg H, Querat L, Birkeldh U, Nordgren A, Lindstrand A. Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1. OPHTHALMIC GENETICS 2024 45:1 95-102
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| 3 | Batkovskyte D, McKenzie F, Taylan F, Simsek-Kiper PO, Nikkel SM, Ohashi H, Stevenson RE, Ha T, Cavalcanti DP, Miyahara H, Skinner SA, Aguirre MA, Akçören Z, Utine GE, Chiu T, Shimizu K, Hammarsjö A, Boduroglu K, Moore HW, Louie RJ, Arts P, Merrihew AN, Babic M, Jackson MR, Papadogiannakis N, Lindstrand A, Nordgren A, Barnett CP, Scott HS, Chagin AS, Nishimura G, Grigelioniene G. Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2023 38:5 692-706 |
| 4 |
Caron V, Chassaing N, Ragge N, Boschann F, Ngu AM, Meloche E, Chorfi S, Lakhani SA, Ji W, Steiner L, Marcadier J, Jansen PR, van de Pol LA, van Hagen JM, Russi AS, Le Guyader G, Nordenskjöld M, Nordgren A, Anderlid BM, Plaisancié J, Stoltenburg C, Horn D, Drenckhahn A, Hamdan FF, Lefebvre M, Attie-Bitach T, Forey P, Smirnov V, Ernould F, Jacquemont ML, Grotto S, Alcantud A, Coret A, Ferrer-Avargues R, Srivastava S, Vincent-Delorme C, Romoser S, Safina N, Saade D, Lupski JR, Calame DG, Geneviève D, Chatron N, Schluth-Bolard C, Myers KA, Dobyns WB, Calvas P, Salmon C, Holt R, Elmslie F, Allaire M, Prigozhin DM, Tremblay A, Michaud JL, DDD Study. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Genetics in medicine : official journal of the American College of Medical Genetics 2023 25:8 100856-
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| 5 |
Jacob P, Lindelof H, Rustad CF, Sutton VR, Moosa S, Udupa P, Hammarsjo A, Bhavani GS, Batkovskyte D, Tveten K, Dalal A, Horemuzova E, Nordgren A, Tham E, Shah HT, Merckoll E, Orellana L, Nishimura G, Girisha KM, Grigelioniene G. Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13. NPJ GENOMIC MEDICINE 2023 8:1 39-
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| 6 |
Björlin Avdic H, Kleberg JL, van der Poll M, Frisén L, Hutley M, Sarjanen M, Nordgren I, Ekholm K, Hirschberg AL, Nordgren A, Willfors C. Cognitive profile in adult women with turner syndrome: IQ split and associations with ADHD and ASD. Cognitive neuropsychiatry 2023 28:3 207-225
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| 7 |
Wadensten E, Wessman S, Abel F, Diaz De Ståhl T, Tesi B, Orsmark Pietras C, Arvidsson L, Taylan F, Fransson S, Vogt H, Poluha A, Pradhananga S, Hellberg M, Lagerstedt-Robinson K, Raj Somarajan P, Samuelsson S, Orrsjö S, Maqbool K, Henning K, Strid T, Ek T, Fagman H, Olsson Bontell T, Martinsson T, Puls F, Kogner P, Wirta V, Pronk CJ, Wille J, Rosenquist R, Nistér M, Mertens F, Sabel M, Norén-Nyström U, Grillner P, Nordgren A, Ljungman G, Sandgren J, Gisselsson D, Genomic Medicine Sweden Childhood Cancer Working Group. Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer. JCO precision oncology 2023 7: e2300039-
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| 8 |
Krali O, Marincevic-Zuniga Y, Arvidsson G, Enblad AP, Lundmark A, Sayyab S, Zachariadis V, Heinäniemi M, Suhonen J, Oksa L, Vepsäläinen K, Öfverholm I, Barbany G, Nordgren A, Lilljebjörn H, Fioretos T, Madsen HO, Marquart HV, Flaegstad T, Forestier E, Jónsson ÓG, Kanerva J, Lohi O, Norén-Nyström U, Schmiegelow K, Harila A, Heyman M, Lönnerholm G, Syvänen AC, Nordlund J. Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia. NPJ precision oncology 2023 7:1 131-
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| 9 |
Kampitsi CE, Nordgren A, Mogensen H, Pontén E, Feychting M, Tettamanti G. Neurocutaneous Syndromes, Perinatal Factors, and the Risk of Childhood Cancer in Sweden. JAMA network open 2023 6:7 e2325482-
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| 10 |
Kleberg JL, Hallman AEZ, Galazka MA, Riby DM, Bölte S, Willfors C, Fawcett C, Nordgren A. No transfer of arousal from other's eyes in Williams syndrome. Scientific reports 2023 13:1 18397-
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| 11 |
Nordgren A, Lindstrand A, Wu HY, Fossum M. Precision medicine and rare diseases in pediatric urology. Journal of pediatric urology 2023 19:3 335-338
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| 12 |
Björlin Avdic H, Strannegård C, Engberg H, Willfors C, Nordgren I, Frisén L, Hirschberg AL, Guath M, Nordgren A, Kleberg JL. Reduced effects of social feedback on learning in Turner syndrome. Scientific reports 2023 13:1 15858-
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| 13 |
Maya-Gonzalez C, Wessman S, Lagerstedt-Robinson K, Taylan F, Tesi B, Kuchinskaya E, McCluggage WG, Poluha A, Holm S, Nergardh R, De Stahl TD, Hoybye C, Tettamanti G, Delgado-Vega AM, Nordenvall AS, Nordgren A. Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation. FRONTIERS IN MEDICINE 2023 10: 1172565-
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| 14 |
Kleberg JL, Willfors C, Björlin Avdic H, Riby D, Galazka MA, Guath M, Nordgren A, Strannegård C. Social feedback enhances learning in Williams syndrome. Scientific reports 2023 13:1 164-
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| 15 |
Runheim H, Pettersson M, Hammarsjö A, Nordgren A, Henriksson M, Lindstrand A, Levin LÅ, Soller MJ. The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders. Scientific reports 2023 13:1 6904-
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| 16 |
Kleberg JL, Riby D, Fawcett C, Björlin Avdic H, Frick MA, Brocki KC, Högström J, Serlachius E, Nordgren A, Willfors C. Williams syndrome: reduced orienting to other's eyes in a hypersocial phenotype. Journal of autism and developmental disorders 2023 53:7 2786-2797
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| 17 |
Pontén E, Frisk S, Taylan F, Vaz R, Wessman S, de Kock L, Pal N, Foulkes WD, Lagerstedt-Robinson K, Nordgren A. A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1. Journal of medical genetics 2022 59:2 141-146
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| 18 |
Bang B, Eisfeldt J, Barbany G, Harila-Saari A, Heyman M, Zachariadis V, Taylan F, Nordgren A. A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins. Blood advances 2022 6:7 2275-2289
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| 19 |
Lindelöf H, Horemuzova E, Voss U, Nordgren A, Grigelioniene G, Hammarsjö A. Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up. Frontiers in endocrinology 2022 13: 862908-
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| 20 | Frisk S, Wachtmeister A, Laurell T, Lindstrand A, Jäntti N, Malmgren H, Lagerstedt-Robinson K, Tesi B, Taylan F, Nordgren A. Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants. Molecular genetics & genomic medicine 2022 10:4 e1880- |
| 21 |
Zhao S, Zhang YQ, Hallgrimsdottir S, Zuo YZ, Li XX, Batkovskyte D, Liu S, Lindelof H, Wang SR, Hammarsjo A, Yang Y, Ye YY, Wang LL, Yan ZH, Lin JC, Yu CX, Chen ZF, Niu YC, Wang HZ, Zhao Z, Liu PF, Qiu GX, Posey JE, Wu ZH, Lupski JR, Micule I, Anderlid BM, Voss U, Sulander D, Kuchinskaya E, Nordgren A, Nilsson O, Zhang TJ, Grigelioniene G, Wu N, Deciphering Disorders Involving Sc. Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders. NPJ GENOMIC MEDICINE 2022 7:1 11-
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| 22 |
Lindstrand A, Ek M, Kvarnung M, Anderlid BM, Björck E, Carlsten J, Eisfeldt J, Grigelioniene G, Gustavsson P, Hammarsjö A, Helgadóttir HT, Hellström-Pigg M, Kuchinskaya E, Lagerstedt-Robinson K, Levin LÅ, Lieden A, Lindelöf H, Malmgren H, Nilsson D, Svensson E, Paucar M, Sahlin E, Tesi B, Tham E, Winberg J, Winerdal M, Wincent J, Johansson Soller M, Pettersson M, Nordgren A. Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability. Genetics in medicine : official journal of the American College of Medical Genetics 2022 24:11 2296-2307
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| 23 |
Schuster J, Klar J, Khalfallah A, Laan L, Hoeber J, Fatima A, Sequeira VM, Jin Z, Korol SV, Huss M, Nordgren A, Anderlid BM, Gallant C, Birnir B, Dahl N. ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function. FRONTIERS IN MOLECULAR NEUROSCIENCE 2022 15: 988993-
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| 24 |
Tettamanti G, Mogensen H, Kampitsi CE, Nordgren A, Feychting M. Birth Characteristics Among Children Diagnosed with Neurofibromatosis Type 1 and Tuberous Sclerosis. JOURNAL OF PEDIATRICS 2021 239: 200-205.e2
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| 25 |
Botto LD, Meeths M, Campos-Xavier B, Bergamaschi R, Mazzanti L, Scarano E, Finocchi A, Cancrini C, Zirn B, Kuhnle I, Kramm CM, Alanay Y, Jones WD, Irving M, Sabir A, Henter JI, Borgstrom B, Nordgren A, Hammarsjo A, Putti C, Mozzato C, Zuccarello D, Nishimura G, Bonafe L, Grigelioniene G, Unger S, Superti-Furga A. Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2021 185:2 517-527
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Hammarsjo A, Pettersson M, Chitayat D, Handa A, Anderlid BM, Bartocci M, Basel D, Batkovskyte D, Beleza-Meireles A, Conner P, Eisfeldt J, Girisha KM, Chung BHY, Horemuzova E, Hyodo H, Kornejeva L, Lagerstedt-Robinson K, Lin AE, Magnusson M, Moosa S, Nayak SS, Nilsson D, Ohashi H, Ohashi-Fukuda N, Stranneheim H, Taylan F, Traberg R, Voss U, Wirta V, Nordgren A, Nishimura G, Lindstrand A, Grigelioniene G. High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses. JOURNAL OF HUMAN GENETICS 2021 66:10 995-1008
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| 27 |
Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, Engvall M, Anderlid BM, Arnell H, Johansson CB, Barbaro M, Bjorck E, Bruhn H, Eisfeldt J, Freyer C, Grigelioniene G, Gustavsson P, Hammarsjo A, Hellstrom-Pigg M, Iwarsson E, Jemt A, Laaksonen M, Enoksson SL, Malmgren H, Naess K, Nordenskjold M, Oscarson M, Pettersson M, Rasi C, Rosenbaum A, Sahlin E, Sardh E, Stodberg T, Tesi B, Tham E, Thonberg H, Tohonen V, von Dobeln U, Vassiliou D, Vonlanthen S, Wikstrom AC, Wincent J, Winqvist O, Wredenberg A, Ygberg S, Zetterstrom RH, Marits P, Soller MJ, Nordgren A, Wirta V, Lindstrand A, Wedell A. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. GENOME MEDICINE 2021 13:1 40-
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| 28 |
Gillentine MA, Wang TY, Hoekzema K, Rosenfeld J, Liu PF, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A, Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K, Earl RK, Nowakowski T, Bernier RA, Eichler EE, CAUSES Study, SPARK Consortium. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. GENOME MEDICINE 2021 13:1 63-
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| 29 |
Johansson Soller M, Nordgren A, Ehrencrona H, Lovmar L, Wedell A, Lindstrand A. [The utility of whole genome sequencing in rare disease diagnostics]. Lakartidningen 2021 118:
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| 30 |
Willfors C, Riby DM, van der Poll M, Ekholm K, Avdic Björlin H, Kleberg JL, Nordgren A. Williams syndrome: on the role of intellectual abilities in anxiety. Orphanet journal of rare diseases 2021 16:1 472-
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| 31 |
Bergstrand S, Böhm S, Malmgren H, Norberg A, Sundin M, Nordgren A, Farnebo M. Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome. Cell death & disease 2020 11:4 238-
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| 32 |
Myers L, Anderlid BM, Nordgren A, Lundin K, Kuja-Halkola R, Tammimies K, Bölte S. Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders. American journal of medical genetics. Part A 2020 182:5 1177-1189
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| 33 |
Thams S, Islam M, Lindefeldt M, Nordgren A, Granberg T, Tesi B, Barbany G, Nilsson D, Paucar M. Heterozygous variants in DCC: Beyond congenital mirror movements. Neurology. Genetics 2020 6:6 e526-
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| 34 |
Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, Du B, Barnett C, Thompson E, Shaw M, Carroll R, Friend K, Catford R, Palmer EE, Zou X, Ou J, Li H, Guo H, Gerdts J, Avola E, Calabrese G, Elia M, Greco D, Lindstrand A, Nordgren A, Anderlid BM, Vandeweyer G, Van Dijck A, Van der Aa N, McKenna B, Hancarova M, Bendova S, Havlovicova M, Malerba G, Bernardina BD, Muglia P, van Haeringen A, Hoffer MJV, Franke B, Cappuccio G, Delatycki M, Lockhart PJ, Manning MA, Liu P, Scheffer IE, Brunetti-Pierri N, Rommelse N, Amaral DG, Santen GWE, Trabetti E, Sedláček Z, Michaelson JJ, Pierce K, Courchesne E, Kooy RF, Nordenskjöld M, Romano C, Peeters H, Bernier RA, Gecz J, Xia K, Eichler EE, SPARK Consortium. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature communications 2020 11:1 4932-
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| 35 |
Susanto E, Marin Navarro A, Zhou L, Sundström A, van Bree N, Stantic M, Moslem M, Tailor J, Rietdijk J, Zubillaga V, Hübner JM, Weishaupt H, Wolfsberger J, Alafuzoff I, Nordgren A, Magnaldo T, Siesjö P, Johnsen JI, Kool M, Tammimies K, Darabi A, Swartling FJ, Falk A, Wilhelm M. Modeling SHH-driven medulloblastoma with patient iPS cell-derived neural stem cells. Proceedings of the National Academy of Sciences of the United States of America 2020 117:33 20127-20138
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| 36 |
Andersson K, Malmgren B, Astrom E, Nordgren A, Taylan F, Dahllof G. Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta. ORPHANET JOURNAL OF RARE DISEASES 2020 15:1 80-
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| 37 |
Ivanov Ofverholm I, Zachariadis V, Taylan F, Marincevic-Zuniga Y, Tran AN, Saft L, Nilsson D, Syvanen AC, Lonnerholm G, Harila-Saari A, Nordenskjold M, Heyman M, Nordgren A, Nordlund J, Barbany G. Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia. LEUKEMIA & LYMPHOMA 2020 61:3 604-613
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| 38 |
Marin Navarro A, Pronk RJ, van der Geest AT, Oliynyk G, Nordgren A, Arsenian-Henriksson M, Falk A, Wilhelm M. p53 controls genomic stability and temporal differentiation of human neural stem cells and affects neural organization in human brain organoids. Cell death & disease 2020 11:1 52-
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| 39 | Winberg J, Gustavsson P, Sahlin E, Larsson M, Ehren H, Fossum M, Wester T, Nordgren A, Nordenskjold A. Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations. MOLECULAR GENETICS & GENOMIC MEDICINE 2020 8:2 e1084- |
| 40 |
Smith M, Alexander E, Marcinkute R, Dan D, Rawson M, Banka S, Gavin J, Mina H, Hennessy C, Riccardi F, Radio FC, Havlovicova M, Cassina M, Emandi AC, Fradin M, Gompertz L, Nordgren A, Traberg R, Rossi M, Trimouille A, Sowmyalakshmi R, Dallapiccola B, Renieri A, Faivre L, Kerr B, Verloes A, Clayton-Smith J, Douzgou S, ERN ITHACA. Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders. Orphanet journal of rare diseases 2020 15:1 103-
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| 41 | Myers L, Blyth M, Moradkhani K, Hranilovic D, Polesie S, Isaksson J, Nordgren A, Bucan M, Vincent M, Bolte S, Anderlid BM, Tammimies K. Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications. MOLECULAR GENETICS & GENOMIC MEDICINE 2020 8:1 e1013- |
| 42 |
Kvarnung M, Shahsavani M, Taylan F, Moslem M, Breeuwsma N, Laan L, Schuster J, Jin Z, Nilsson D, Lieden A, Anderlid BM, Nordenskjold M, Lundberg ES, Birnir B, Dahl N, Nordgren A, Lindstrand A, Falk A. Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186. FRONTIERS IN GENETICS 2019 10: 896-
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| 43 |
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A, Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF, ADNP Consortium. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP. Biological psychiatry 2019 85:4 287-297
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| 44 |
Guo H, Li Y, Shen L, Wang TY, Jia XB, Liu LJ, Xu T, Ou MZ, Hoekzema K, Wu HD, Gillentine MA, Liu CY, Ni HL, Peng PW, Zhao RJ, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan YT, Chen ML, Zhang YW, Li KK, Zhang QM, Tan JQ, Zhu TF, Liu YN, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou XB, Zhao JP, Hu ZM, Xia F, Liu PF, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZQD, Li HH, Xie W, Hufnagel RB, Eichler EE, Xia K. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. SCIENCE ADVANCES 2019 5:9 eaax2166-
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| 45 | Frisk S, Taylan F, Blaszczyk I, Nennesmo I, Annerén G, Herm B, Stattin EL, Zachariadis V, Lindstrand A, Tesi B, Laurell T, Nordgren A. Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth. Clinical genetics 2019 96:2 118-125 |
| 46 |
Lindstrand A, Eisfeldt J, Pettersson M, Carvalho CMB, Kvarnung M, Grigelioniene G, Anderlid BM, Bjerin O, Gustavsson P, Hammarsjö A, Georgii-Hemming P, Iwarsson E, Johansson-Soller M, Lagerstedt-Robinson K, Lieden A, Magnusson M, Martin M, Malmgren H, Nordenskjöld M, Norling A, Sahlin E, Stranneheim H, Tham E, Wincent J, Ygberg S, Wedell A, Wirta V, Nordgren A, Lundin J, Nilsson D. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. Genome medicine 2019 11:1 68-
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| 47 |
Grigelioniene G, Suzuki HI, Taylan F, Mirzamohammadi F, Borochowitz ZU, Ayturk UM, Tzur S, Horemuzova E, Lindstrand A, Weis MA, Grigelionis G, Hammarsjö A, Marsk E, Nordgren A, Nordenskjöld M, Eyre DR, Warman ML, Nishimura G, Sharp PA, Kobayashi T. Gain-of-function mutation of microRNA-140 in human skeletal dysplasia. Nature medicine 2019 25:4 583-590
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| 48 |
Tettamanti G, Mogensen H, Nordgren A, Feychting M. Maternal smoking during pregnancy and risk of phacomatoses: results from a Swedish register-based study. CLINICAL EPIDEMIOLOGY 2019 11: 793-800
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| 49 |
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM, Deciphering Developmental Disorders study, CAUSES Study. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. American journal of human genetics 2019 104:3 530-541
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| 50 |
Jarviaho T, Bang B, Zachariadis V, Taylan F, Moilanen J, Mottonen M, Smith CIE, Harila-Saari A, Niinimaki R, Nordgren A. Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6. BLOOD ADVANCES 2019 3:18 2722-2731
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| 51 | Salehi Karlslätt K, Pettersson M, Jäntti N, Szafranski P, Wester T, Husberg B, Ullberg U, Stankiewicz P, Nordgren A, Lundin J, Lindstrand A, Nordenskjöld A. Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation. Molecular genetics & genomic medicine 2019 7:3 e549- |
| 52 | Pettersson M, Vaz R, Hammarsjö A, Eisfeldt J, Carvalho CMB, Hofmeister W, Tham E, Horemuzova E, Voss U, Nishimura G, Klintberg B, Nordgren A, Nilsson D, Grigelioniene G, Lindstrand A. Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Human mutation 2018 39:10 1456-1467 |
| 53 |
Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH, Scottish Genome Partnership, Undiagnosed Diseases Network. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. American journal of human genetics 2018 103:4 553-567
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| 54 | Stamouli S, Anderlid BM, Willfors C, Thiruvahindrapuram B, Wei J, Berggren S, Nordgren A, Scherer SW, Lichtenstein P, Tammimies K, Bölte S. Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders. Twin research and human genetics : the official journal of the International Society for Twin Studies 2018 21:1 1-11 |
| 55 | Kvarnung M, Taylan F, Nilsson D, Anderlid BM, Malmgren H, Lagerstedt-Robinson K, Holmberg E, Burstedt M, Nordenskjöld M, Nordgren A, Lundberg ES. Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability. Clinical genetics 2018 94:6 528-537 |
| 56 |
Tran AN, Taylan F, Zachariadis V, Ivanov Öfverholm I, Lindstrand A, Vezzi F, Lötstedt B, Nordenskjöld M, Nordgren A, Nilsson D, Barbany G. High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing. PloS one 2018 13:3 e0193928-
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| 57 |
Nazaryan-Petersen L, Eisfeldt J, Pettersson M, Lundin J, Nilsson D, Wincent J, Lieden A, Lovmar L, Ottosson J, Gacic J, Mäkitie O, Nordgren A, Vezzi F, Wirta V, Käller M, Hjortshøj TD, Jespersgaard C, Houssari R, Pignata L, Bak M, Tommerup N, Lundberg ES, Tümer Z, Lindstrand A. Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization. PLoS genetics 2018 14:11 e1007780-
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| 58 |
Nag HE, Nordgren A, Anderlid BM, Nærland T. Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome. Molecular autism 2018 9: 1-
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| 59 |
Wang Z, Horemuzova E, Iida A, Guo L, Liu Y, Matsumoto N, Nishimura G, Nordgren A, Miyake N, Tham E, Grigelioniene G, Ikegawa S. Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. Journal of human genetics 2017 62:4 503-506
View record in PubMed® View record in Web of Science® Fulltext: https://doi.org/10.1038/jhg.2016.157 |
| 60 |
Bengani H, Handley M, Alvi M, Ibitoye R, Lees M, Lynch SA, Lam W, Fannemel M, Nordgren A, Malmgren H, Kvarnung M, Mehta S, McKee S, Whiteford M, Stewart F, Connell F, Clayton-Smith J, Mansour S, Mohammed S, Fryer A, Morton J, Grozeva D, Asam T, Moore D, Sifrim A, McRae J, Hurles ME, Firth HV, Raymond FL, Kini U, Nellåker C, Ddd Study , FitzPatrick DR, UK10K Consortium. Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genetics in medicine : official journal of the American College of Medical Genetics 2017 19:8 900-908
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| 61 |
Pettersson M, Bergendal B, Norderyd J, Nilsson D, Anderlid BM, Nordgren A, Lindstrand A. Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity. American journal of medical genetics. Part A 2017 173:5 1396-1399
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| 62 | Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gecz J, Xia K, Zweifel LS, Eichler EE. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nature neuroscience 2017 20:8 1043-1051 |
| 63 |
Bramswig NC, Lüdecke HJ, Pettersson M, Albrecht B, Bernier RA, Cremer K, Eichler EE, Falkenstein D, Gerdts J, Jansen S, Kuechler A, Kvarnung M, Lindstrand A, Nilsson D, Nordgren A, Pfundt R, Spruijt L, Surowy HM, de Vries BB, Wieland T, Engels H, Strom TM, Kleefstra T, Wieczorek D. Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Human genetics 2017 136:2 179-192
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| 64 |
Kvarnung M, Nordgren A. Intellectual Disability & Rare Disorders: A Diagnostic Challenge. Advances in experimental medicine and biology 2017 1031: 39-54
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| 65 | Willfors C, Carlsson T, Anderlid BM, Nordgren A, Kostrzewa E, Berggren S, Ronald A, Kuja-Halkola R, Tammimies K, Bölte S. Medical history of discordant twins and environmental etiologies of autism. Translational psychiatry 2017 7:1 e1014- |
| 66 |
Myers L, Anderlid BM, Nordgren A, Willfors C, Kuja-Halkola R, Tammimies K, Bolte S. Minor physical anomalies in neurodevelopmental disorders: a twin study. CHILD AND ADOLESCENT PSYCHIATRY AND MENTAL HEALTH 2017 11: 57-
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| 67 |
Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S. Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. Scientific reports 2017 7:1 15585-
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| 68 | Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nature genetics 2017 49:4 515-526 |
| 69 | Nilsson D, Pettersson M, Gustavsson P, Förster A, Hofmeister W, Wincent J, Zachariadis V, Anderlid BM, Nordgren A, Mäkitie O, Wirta V, Käller M, Vezzi F, Lupski JR, Nordenskjöld M, Lundberg ES, Carvalho CMB, Lindstrand A. Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. Human mutation 2017 38:2 180-192 |
| 70 |
Tham E, Eklund EA, Hammarsjö A, Bengtson P, Geiberger S, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Grigelionis G, Conner P, Lindgren P, Lindstrand A, Wedell A, Albåge M, Zielinska K, Nordgren A, Papadogiannakis N, Nishimura G, Grigelioniene G. A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. European journal of human genetics : EJHG 2016 24:2 198-207
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| 71 | Wincent J, Luthman A, van Belzen M, van der Lans C, Albert J, Nordgren A, Anderlid BM. CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. Molecular genetics & genomic medicine 2016 4:1 39-45 |
| 72 |
Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B, Gecz J, Gilissen C, Brunner HG, Kini U, Roepman R, Nordgren A, Kleefstra T, DDD Study. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. American journal of human genetics 2016 98:2 373-81
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| 73 |
Ivanov Öfverholm I, Tran AN, Olsson L, Zachariadis V, Heyman M, Rudd E, Syk Lundberg E, Nordenskjöld M, Johansson B, Nordgren A, Barbany G. Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia. Leukemia & lymphoma 2016 57:9 2161-70
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| 74 |
Paucar M, Malmgren H, Taylor M, Reynolds JJ, Svenningsson P, Press R, Nordgren A. Expanding the ataxia with oculomotor apraxia type 4 phenotype. Neurology. Genetics 2016 2:1 e49-
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| 75 |
Lu Y, Segelman J, Nordgren A, Lindström L, Frisell J, Martling A. Increased risk of colorectal cancer in patients diagnosed with breast cancer in women. Cancer epidemiology 2016 41: 57-62
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| 76 | Kvarnung M, Taylan F, Nilsson D, Albåge M, Nordenskjöld M, Anderlid BM, Nordgren A, Syk Lundberg E. Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy. Clinical genetics 2016 89:1 99-103 |
| 77 |
Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM, Byers PH, Zschocke J, Molecular Basis of Periodontal EDS Consortium. Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. American journal of human genetics 2016 99:5 1005-1014
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| 78 |
Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. American journal of medical genetics. Part A 2016 170:12 3069-3082
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| 79 |
Kasher PR, Schertz KE, Thomas M, Jackson A, Annunziata S, Ballesta-Martinez MJ, Campeau PM, Clayton PE, Eaton JL, Granata T, Guillén-Navarro E, Hernando C, Laverriere CE, Liedén A, Villa-Marcos O, McEntagart M, Nordgren A, Pantaleoni C, Pebrel-Richard C, Sarret C, Sciacca FL, Wright R, Kerr B, Glasgow E, Banka S. Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability. American journal of human genetics 2016 98:2 363-72
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| 80 |
Nordlund J, Bäcklin CL, Zachariadis V, Cavelier L, Dahlberg J, Öfverholm I, Barbany G, Nordgren A, Övernäs E, Abrahamsson J, Flaegstad T, Heyman MM, Jónsson ÓG, Kanerva J, Larsson R, Palle J, Schmiegelow K, Gustafsson MG, Lönnerholm G, Forestier E, Syvänen AC. DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia. Clinical epigenetics 2015 7: 11-
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| 81 |
Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs HA, Zackai EH, Parker MJ, Millan F, Rosenbaum K, Wilson GN, Nordgren A. Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. American journal of human genetics 2015 96:3 507-13
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| 82 |
Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. European journal of human genetics : EJHG 2015 23:9 1176-85
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| 83 |
Winberg J, Berggren H, Malm T, Johansson S, Johansson Ramgren J, Nilsson B, Liedén A, Nordenskjöld A, Gustavsson P, Nordgren A. No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations. European journal of medical genetics 2015 58:3 129-33
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| 84 | Reynaert N, Ockeloen CW, Savendahl L, Beckers D, Devriendt K, Kleefstra T, Carels CEL, Grigelioniene G, Nordgren A, Francois I, de Zegher F, Casteels K. Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment. HORMONE RESEARCH IN PAEDIATRICS 2015 83:5 361-4 |
| 85 | Mäkitie O, Geiberger S, Horemuzova E, Hagenäs L, Moström E, Nordenskjöld M, Grigelioniene G, Nordgren A. SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED). Clinical genetics 2015 87:3 273-8 |
| 86 | Olsson L, Ivanov Öfverholm I, Norén-Nyström U, Zachariadis V, Nordlund J, Sjögren H, Golovleva I, Nordgren A, Paulsson K, Heyman M, Barbany G, Johansson B. The clinical impact of IKZF1 deletions in paediatric B-cell precursor acute lymphoblastic leukaemia is independent of minimal residual disease stratification in Nordic Society for Paediatric Haematology and Oncology treatment protocols used between 1992 and 2013. British journal of haematology 2015 170:6 847-58 |
| 87 | Paulsson K, Lilljebjörn H, Biloglav A, Olsson L, Rissler M, Castor A, Barbany G, Fogelstrand L, Nordgren A, Sjögren H, Fioretos T, Johansson B. The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia. Nature genetics 2015 47:6 672-6 |
| 88 | Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Annerén G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nature genetics 2014 46:4 380-4 |
| 89 |
Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, Åström E, Nordenskjöld M, Nordgren A, Mäkitie O. Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. American journal of medical genetics. Part A 2014 164A:7 1635-41
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| 90 |
Lundin C, Forestier E, Klarskov Andersen M, Autio K, Barbany G, Cavelier L, Golovleva I, Heim S, Heinonen K, Hovland R, Johannsson JH, Kjeldsen E, Nordgren A, Palmqvist L, Johansson B, NOPHO Leukemia Cytogenetic Study Group (NLCSG), Nordic Society of Pediatric Hematology Oncology (NOPHO), Swedish Cytogenetic Leukemia Study Group (SCLSG). Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries. Journal of hematology & oncology 2014 7: 32-
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| 91 |
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid BM, Kant SG, Ruivenkamp CA, Gustavsson P, Valta H, Geiberger S, Topa A, Lagerstedt-Robinson K, Taylan F, Wincent J, Laurell T, Pekkinen M, Nordenskjöld M, Mäkitie O, Nordgren A. Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. Journal of medical genetics 2014 51:1 45-54
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| 92 |
Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, Amilon A, Annerén G, Arner M, Pettersson M, Jäntti N, Rosberg HE, Cattini PA, Nordenskjöld A, Mäkitie O, Grigelioniene G, Nordgren A. Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease. Molecular genetics & genomic medicine 2014 2:5 402-11
View record in PubMed® Fulltext: https://doi.org/10.1002/mgg3.81 |
| 93 |
Winberg J, Gustavsson P, Papadogiannakis N, Sahlin E, Bradley F, Nordenskjöld E, Svensson PJ, Annerén G, Iwarsson E, Nordgren A, Nordenskjöld A. Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association. PloS one 2014 9:1 e85313-
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| 94 |
Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. American journal of human genetics 2014 95:3 285-93
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| 95 |
Anderlid BM, Lundin J, Malmgren H, Lehtihet M, Nordgren A. Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype. American journal of medical genetics. Part A 2014 164A:2 425-31
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| 96 | Bölte S, Willfors C, Berggren S, Norberg J, Poltrago L, Mevel K, Coco C, Fransson P, Borg J, Sitnikov R, Toro R, Tammimies K, Anderlid BM, Nordgren A, Falk A, Meyer U, Kere J, Landén M, Dalman C, Ronald A, Anckarsäter H, Lichtenstein P. The Roots of Autism and ADHD Twin Study in Sweden (RATSS). Twin research and human genetics : the official journal of the International Society for Twin Studies 2014 17:3 164-76 |
| 97 |
Vandeweyer G, Helsmoortel C, Van Dijck A, Vulto-van Silfhout AT, Coe BP, Bernier R, Gerdts J, Rooms L, van den Ende J, Bakshi M, Wilson M, Nordgren A, Hendon LG, Abdulrahman OA, Romano C, De Vries BBA, Kleefstra T, Eichler EE, Van der Aa N, Kooy RF. The Transcriptional Regulator ADNP Links the BAF (SWI/SNF) Complexes With Autism. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS 2014 166:3 315-26
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| 98 |
Kvarnung M, Nilsson D, Lindstrand A, Korenke GC, Chiang SC, Blennow E, Bergmann M, Stödberg T, Mäkitie O, Anderlid BM, Bryceson YT, Nordenskjöld M, Nordgren A. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. Journal of medical genetics 2013 50:8 521-8
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| 99 |
Paulsson K, Forestier E, Andersen MK, Autio K, Barbany G, Borgström G, Cavelier L, Golovleva I, Heim S, Heinonen K, Hovland R, Johannsson JH, Kjeldsen E, Nordgren A, Palmqvist L, Johansson B, Swedish Cytogenetic Leukemia Study Group (SCLSG), Nordic Society of Pediatric Hematology and Oncology (NOPHO), NOPHO Leukemia Cytogenetic Study Group (NLCSG). High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992/2000 protocols. Haematologica 2013 98:9 1424-32
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| 100 | Makrythanasis P, van Bon BW, Steehouwer M, Rodriguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EMHF, del Campo M, Cordeiro I, Cueto-Gonzalez A, Cusco I, Deshpande C, Frysira E, Izatt L, Flores R, Galan E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis CL, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos H, Schoumans J, Schuurs-Hoeijmakers JHM, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BBA, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. CLINICAL GENETICS 2013 84:6 539-45 |
| 101 |
Laurell T, Lundin J, Anderlid BM, Gorski JL, Grigelioniene G, Knight SJ, Krepischi AC, Nordenskjöld A, Price SM, Rosenberg C, Turnpenny PD, Vianna-Morgante AM, Nordgren A. Molecular and clinical delineation of the 17q22 microdeletion phenotype. European journal of human genetics : EJHG 2013 21:10 1085-92
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| 102 |
Winberg J, Lagerstedt Robinson K, Naess K, Lesko N, Wibom R, Liedén A, Anderlid BM, Graff C, Nordenskjöld A, Nordgren A, Gustavsson P. Partial tetrasomy 14 associated with multiple malformations. American journal of medical genetics. Part A 2013 161A:6 1284-90
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| 103 |
Grigelioniene G, Geiberger S, Papadogiannakis N, Mäkitie O, Nishimura G, Nordgren A, Conner P. The phenotype range of achondrogenesis 1A. American journal of medical genetics. Part A 2013 161A:10 2554-8
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| 104 |
Barbany G, Andersen MK, Autio K, Borgstrom G, Franco LC, Golovleva I, Heim S, Heinonen K, Hovland R, Johansson B, Johannsson JH, Kjeldsen E, Nordgren A, Palmqvist L, Forestier E, Nordic Soc Paediat Haematology, Swedish Cytogenetic Leukaemia St, NOPHO Leukaemia Cytogenetic Study. Additional aberrations of the ETV6 and RUNX1 genes have no prognostic impact in 229 t(12;21)(p13;q22)-positive B-cell precursor acute lymphoblastic leukaemias treated according to the NOPHO-ALL-2000 protocol. LEUKEMIA RESEARCH 2012 36:7 936-8
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| 105 | Laurell T, Vandermeer JE, Wenger AM, Grigelioniene G, Nordenskjöld A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A. A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb. Human mutation 2012 33:7 1063-6 |
| 106 | Lundin C, Hjorth L, Behrendtz M, Nordgren A, Palmqvist L, Andersen MK, Biloglav A, Forestier E, Paulsson K, Johansson B. High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome. GENES CHROMOSOMES & CANCER 2012 51:2 196-206 |
| 107 |
Bremer A, Giacobini M, Eriksson M, Gustavsson P, Nordin V, Fernell E, Gillberg C, Nordgren A, Uppstromer A, Anderlid BM, Nordenskjold M, Schoumans J. Copy Number Variation Characteristics in Subpopulations of Patients With Autism Spectrum Disorders. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 2011 156B:2 115-24
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| 108 |
Kuchinskaya E, Heyman M, Nordgren A, Soderhall S, Forestier E, Wehner P, Vettenranta K, Jonsson O, Wesenberg F, Sahlen S, Nordenskjold M, Blennow E. Interphase fluorescent in situ hybridization deletion analysis of the 9p21 region and prognosis in childhood acute lymphoblastic leukaemia (ALL): results from a prospective analysis of 519 Nordic patients treated according to the NOPHO-ALL 2000 protocol. BRITISH JOURNAL OF HAEMATOLOGY 2011 152:5 615-22
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| 109 | Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen YP, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BBA, Esko T, Fernandez BA, Fernandez-Aranda F, Fernandez-Real JM, Gratacos M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Mannik K, Platt OS, Sanlaville D, Van Haelst MM, Gomez SV, Walha F, Wu BL, Yu YG, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Bena F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, Moustafa JSE, Elliott P, Faas BHW, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jimenez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstatter A, Knoers NVAM, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengstrom C, Thorsteinsdottir U, Tinahones FJ, Touraine R, Vallee L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Volzke H, Vulto-van Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AIF, Beckmann JS, Froguel P. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. NATURE 2011 478:7367 97-102 |
| 110 |
Andersen MK, Autio K, Barbany G, Borgstrom G, Cavelier L, Golovleva I, Heim S, Heinonen K, Hovland R, Johannsson JH, Johansson B, Kjeldsen E, Nordgren A, Palmqvist L, Forestier E. Paediatric B-cell precursor acute lymphoblastic leukaemia with t(1;19)(q23;p13): clinical and cytogenetic characteristics of 47 cases from the Nordic countries treated according to NOPHO protocols. BRITISH JOURNAL OF HAEMATOLOGY 2011 155:2 235-43
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| 111 |
Winberg J, Gustavsson P, Lagerstedt-Robinson K, Blennow E, Lundin J, Iwarsson E, Nordenstrom A, Anderlid BM, Bondeson ML, Nordenskjold A, Nordgren A. Chimerism Resulting From Parthenogenetic Activation and Dispermic Fertilization. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2010 152A:9 2277-86
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| 112 |
Lindstrand A, Malmgren H, Sahlen S, Schoumans J, Nordgren A, Ergander U, Holm E, Anderlid BM, Blennow E. Detailed molecular and clinical characterization of three patients with 21q deletions. CLINICAL GENETICS 2010 77:2 145-54
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| 113 |
Hulten MA, Jonasson J, Nordgren A, Iwarsson E. Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?. CURRENT GENOMICS 2010 11:6 409-19
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| 114 |
Lindstrand A, Malmgren H, Verri A, Benetti E, Eriksson M, Nordgren A, Anderlid BM, Golovleva I, Schoumans J, Blennow E. Molecular and Clinical Characterization of Patients With Overlapping 10p Deletions. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2010 152A:5 1233-43
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| 115 | Davidsson J, Paulsson K, Lindgren D, Lilljebjorn H, Chaplin T, Forestier E, Andersen MK, Nordgren A, Rosenquist R, Fioretos T, Young BD, Johansson B. Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations. LEUKEMIA 2010 24:5 924-31 |
| 116 | Karrman K, Forestier E, Heyman M, Andersen MK, Autio K, Blennow E, Borgstrom G, Ehrencrona H, Golovleva I, Heim S, Heinonen K, Hovland R, Johannsson JH, Kerndrup G, Nordgren A, Palmqvist L, Johansson B, Nordic Soc Pediat Hematology Oncol, SCLSG, NOPHO Leukemia Cytogenetic Study G. Clinical and Cytogenetic Features of a Population-Based Consecutive Series of 285 Pediatric T-Cell Acute Lymphoblastic Leukemias: Rare T-cell Receptor Gene Rearrangements Are Associated with Poor Outcome. GENES CHROMOSOMES & CANCER 2009 48:9 795-805 |
| 117 |
Gauffin F, Diffner E, Gustafsson B, Nordgren A, Wingren AG, Sander B, Persson JL, Gustafsson B. EXPRESSION OF PTEN AND SHP1, INVESTIGATED FROM TISSUE MICROARRAYS IN PEDIATRIC ACUTE LYMPHOBLASTIC, LEUKEMIA. PEDIATRIC HEMATOLOGY AND ONCOLOGY 2009 26:1 48-56
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| 118 |
Diffner E, Gauffin F, Anagnostaki L, Nordgren A, Gustafsson B, Sander B, Gustafsson B, Persson JL. Expression of VEGF and VEGF Receptors in Childhood Precursor B-cell Acute Lymphoblastic Leukemia Evaluated by Immunohistochemistry. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY 2009 31:9 696-701
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| 119 |
Iwarsson E, Sahlen S, Nordgren A. Jumping Translocation in a Phenotypically Normal Male: A Study of Mosaicism in Spermatozoa, Lymphocytes, and Fibroblasts. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2009 149A:8 1706-11
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| 120 |
Gauffin F, Nordgren A, Barbany G, Gustafsson B, Karlsson H. Quantitation of RNA decay in dried blood spots during 20 years of storage. CLINICAL CHEMISTRY AND LABORATORY MEDICINE 2009 47:12 1467-9
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| 121 |
Akagi T, Shih LY, Ogawa S, Gerss J, Moore SR, Schreck R, Kawamata N, Liang DC, Sanada M, Nannya Y, Deneberg S, Zachariadis V, Nordgren A, Song JH, Dugas M, Lehmann S, Koeffler HP. Single nucleotide polymorphism genomic arrays analysis of t(8;21) acute myeloid leukemia cells. HAEMATOLOGICA-THE HEMATOLOGY JOURNAL 2009 94:9 1301-6
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| 122 |
Kuchinskaya E, Heyman M, Nordgren A, Schoumans J, Staaf J, Borg A, Soderhall S, Grander D, Nordenskjold M, Blennow E. Array-CGH reveals hidden gene dose changes in children with acute lymphoblastic leukaemia and a normal or failed karyotype by G-banding. BRITISH JOURNAL OF HAEMATOLOGY 2008 140:5 572-7
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| 123 |
Thelander EF, Ichimura K, Corcoran M, Barbany G, Nordgren A, Heyman M, Berglund M, Mungall A, Rosenquist R, Collins VP, Grander D, Larsson C, Lagercrantz S. Characterization of 6q deletions in mature B cell lymphomas and childhood acute lymphoblastic leukemia. LEUKEMIA & LYMPHOMA 2008 49:3 477-87
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| 124 |
Forestier E, Heyman M, Andersen MK, Autio K, Blennow E, Borgstrom G, Golovleva I, Heim S, Heinonen K, Hovland R, Johannsson JH, Kerndrup G, Nordgren A, Rosenquist R, Swolin B, Johansson B, Nordic Soc Paediatr Haematology NO, SCLSG, NLCSG. Outcome of ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia in the NOPHO-ALL-1992 protocol: frequent late relapses but good overall survival. BRITISH JOURNAL OF HAEMATOLOGY 2008 140:6 665-72
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| 125 |
Bostrom H, Leuchowius KJ, Hallbook H, Nordgren A, Thorn I, Thorselius M, Rosenquist R, Soderberg O, Sundstrom C. U-2973, a novel B-cell line established from a patient with a mature B-cell leukemia displaying concurrent t(14;18) and MYC translocation to a non-IG gene partner. EUROPEAN JOURNAL OF HAEMATOLOGY 2008 81:3 218-25
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| 126 |
Gustafsson B, Huang W, Bogdanovic G, Gauffin F, Nordgren A, Talekar G, Ornelles DA, Gooding LR. Adenovirus DNA is detected at increased frequency in Guthrie cards from children who develop acute lymphoblastic leukaemia. BRITISH JOURNAL OF CANCER 2007 97:7 992-4
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| 127 |
Schoumans J, Wincent J, Barbaro M, Djureinovic T, Maguire P, Forsberg L, Staaf J, Thuresson AC, Borg A, Nordgren A, Malm G, Anderlid BM. Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients. EUROPEAN JOURNAL OF HUMAN GENETICS 2007 15:2 143-9
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| 128 | Hilton EN, Manson FDC, Urquhart JE, Johnston JJ, Slavotinek AM, Hedera P, Stattin EL, Nordgren A, Biesecker LG, Black GCM. Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination. HUMAN MOLECULAR GENETICS 2007 16:14 1773-82 |
| 129 |
Schoumans J, Johansson B, Corcoran M, Kuchinskaya E, Golovleva I, Grander D, Forestier E, Staaf J, Borg A, Gustafsson B, Blennow E, Nordgren A. Characterisation of dic(9;20)(p11-13;q11) in childhood B-cell precursor acute lymphoblastic leukaemia by tiling resolution array-based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2. BRITISH JOURNAL OF HAEMATOLOGY 2006 135:4 492-9
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| 130 |
Kuchinskaya E, Heyman M, Grander D, Linderholm M, Soderhall S, Zaritskey A, Nordgren A, Porwit-MacDonald A, Zueva E, Pawitan Y, Corcoran M, Nordenskjold M, Blennow E. Children and adults with acute lymphoblastic leukaemia have similar gene expression profiles. EUROPEAN JOURNAL OF HAEMATOLOGY 2005 74:6 466-80
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| 131 |
Schoumans J, Nordgren A, Ruivenkamp C, Brondum-Nielsen K, Teh BT, Anneren G, Holmberg E, Nordenskjold M, Anderlid BM. Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS 2005 13:2 260-3
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| 132 |
Forestier E, Heim S, Blennow E, Borgstrom G, Holmgren G, Heinonen K, Johannsson J, Kerndrup G, Andersen MK, Lundin C, Nordgren A, Rosenquist R, Swolin B, Johansson B, NOPHO, SCLSG, NLCSG. Cytogenetic abnormalities in childhood acute myeloid leukaemia: a Nordic series comprising all children enrolled in the NOPHO-93-AML trial between 1993 and 2001. BRITISH JOURNAL OF HAEMATOLOGY 2003 121:4 566-77
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| 133 |
Nordgren A, Heyman M, Sahlen S, Schoumans J, Soderhall S, Nordenskjold M, Blennow E. Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G-banding - Implications for treatment stratification of childhood acute lymphoblastic leukaemia: detailed analysis of 70 cases. EUROPEAN JOURNAL OF HAEMATOLOGY 2002 68:1 31-41
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| 134 |
Nordgren A, Farnebo F, Johansson B, Holmgren G, Forestier E, Larsson C, Soderhall S, Nordenskjold M, Blennow E. Identification of numerical and structural chromosome aberrations in 15 high hyperdiploid childhood acute lymphoblastic leukemias using spectral karyotyping. EUROPEAN JOURNAL OF HAEMATOLOGY 2001 66:5 297-304
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| 135 |
Nordgren A, Schoumans J, Soderhall S, Nordenskjold M, Blennow E. Interphase fluorescence in situ hybridization and spectral karyotyping reveals hidden genetic aberrations in children with acute lymphoblastic leukaemia and a normal banded karyotype. BRITISH JOURNAL OF HAEMATOLOGY 2001 114:4 786-93
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| 136 | Lee C, Gisselsson D, Jin C, Nordgren A, Ferguson DO, Blennow E, Fletcher JA, Morton CC. Limitations of chromosome classification by multicolor karyotyping. AMERICAN JOURNAL OF HUMAN GENETICS 2001 68:4 1043-7 |
| 137 |
Kytola S, Rummukainen J, Nordgren A, Karhu R, Farnebo F, Isola J, Larsson C. Chromosomal alterations in 15 breast cancer cell lines by comparative genomic hybridization and spectral karyotyping. GENES CHROMOSOMES & CANCER 2000 28:3 308-17
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| 138 |
Nordgren A, Farnebo F, Björkholm M, Sahlén S, Porwit-MacDonald A, Osby E, Kytölä S, Larsson C, Nordenskjöld M, Blennow E. Detailed characterization of a complex karyotype in a patient with primary plasma cell leukaemia using multicolour spectral karyotyping and micro-FISH. The hematology journal : the official journal of the European Haematology Association 2000 1:2 95-101
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| 139 |
Nordgren A, Sorensen AG, Tinggaard-Pedersen N, Blennow E, Larsson C, Lagercrantz S. New chromosomal breakpoints in non-Hodgkin's lymphomas revealed by spectral karyotyping and G-banding. INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE 2000 5:5 485-92
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| 140 |
Nordgren A, Nordenskjold M, Soderhall S, PorwitMacDonald A, Blennow E. A case of acute lymphoblastic leukemia, near-triploidy, and poor outcome: Characterization by fluorescence in situ hybridization using chromosome-specific libraries from all human chromosomes. CANCER GENETICS AND CYTOGENETICS 1997 99:2 93-6
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| 141 |
Nordgren A, Arver S, Kvist U, Carter N, Blennow E. Trisomy 5q12->q13.3 in a patient with add(13q): Characterization of an interchromosomal insertion by forward and reverse chromosome painting. AMERICAN JOURNAL OF MEDICAL GENETICS 1997 73:3 351-5
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| 142 |
Heyman M, Nordgren A, JeddiTehrani M, Rasool O, Liu Y, Grander D, Ost A, Wallberg B, Johansson B, Einhorn S. A T cell lymphoblastic lymphoma patient with two malignant cell populations carrying different 9p deletions including the p16(INK4) and p15(INK4B) genes. Clinical response to interferon-alpha therapy in one of the subclones. LEUKEMIA 1996 10:5 909-17
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| 143 |
Bernell P, Jacobsson B, Nordgren A, Hast R. Clonal cell lineage involvement in myelodysplastic syndromes studied by fluorescence in situ hybridizaiion and morphology. LEUKEMIA 1996 10:4 662-8
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Review
| 1 |
Curic E, Ewans L, Pysar R, Taylan F, Botto LD, Nordgren A, Gahl W, Palmer EE. International Undiagnosed Diseases Programs (UDPs): components and outcomes. Orphanet journal of rare diseases 2023 18:1 348-
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| 2 | Tesi B, Boileau C, Boycott KM, Canaud G, Caulfield M, Choukair D, Hill S, Spielmann M, Wedell A, Wirta V, Nordgren A, Lindstrand A. Precision medicine in rare diseases: What is next?. Journal of internal medicine 2023 294:4 397-412 |
| 3 | Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC. Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement. Clinical genetics 2019 95:4 462-478 |
| 4 |
Björlin Avdic H, Giacobini M, Anderlid BM, Nordgren A, Frisén L. [Insufficient knowledge of the relationship between sex chromosome abnormalities and psychiatric diagnoses]. Lakartidningen 2017 114:
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| 5 |
Nordgren A, Corcoran M, Saaf A, Bremer A, Kluin-Nelemans HC, Schoumans J, Grander D. Characterisation of hairy cell leukaemia by tiling resolution array-based comparative Genome hybridisation: a series of 13 cases and review of the literature. EUROPEAN JOURNAL OF HAEMATOLOGY 2010 84:1 17-25
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| 6 |
Anderlid BM, Blennow E, Giacobini M, Nordgren A, Wincent J, Schoumans J, Nordenskjöld M. [Gene dosage array can even discover small chromosome changes. More children with developmental deviations may be offered an etiological diagnosis]. Lakartidningen 2010 107:17 1144-9
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| 7 | Forestier E, Gauffin F, Andersen MK, Autio K, Borgstrom G, Golovleva I, Gustafsson B, Heim S, Heinonen K, Heyman M, Hovland R, Johannsson JH, Kerndrup G, Rosenquist R, Schoumans J, Swolin B, Johansson B, Nordgren A, NOPHO, SCLSG, NLCSG. Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-Cell precursor acute lymphoblastic leukemias: A nordic series of 24 cases and review of the literature. GENES CHROMOSOMES & CANCER 2008 47:2 149-58 |
| 8 | Forestier E, Andersen MK, Autio K, Blennow E, Borgstrom G, Golovleva I, Heim S, Heinonen K, Hovland R, Johannsson JH, Kerndrup G, Nordgren A, Rosenquist R, Swolin B, Johansson B. Cytogenetic patterns in ETV6/RUNXI-positive pediatric B-cell precursor acute lymphoblastic leukemia: A Nordic series of 245 cases and review of the literature. GENES CHROMOSOMES & CANCER 2007 46:5 440-50 |
| 9 |
Nordgren A. Hidden aberrations diagnosed by interphase fluorescence in situ hybridisation and spectral karyotyping in childhood acute lymphoblastic leukaemia. LEUKEMIA & LYMPHOMA 2003 44:12 2039-53
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Letter
| 1 |
Fioretos T, Wirta V, Cavelier L, Berglund E, Friedman M, Akhras M, Botling J, Ehrencrona H, Engstrand L, Helenius G, Fagerqvist T, Gisselsson D, Gruvberger-Saal S, Gyllensten U, Heidenblad M, Höglund K, Jacobsson B, Johansson M, Johansson Å, Soller MJ, Landström M, Larsson P, Levin LÅ, Lindstrand A, Lovmar L, Lyander A, Melin M, Nordgren A, Nordmark G, Mölling P, Palmqvist L, Palmqvist R, Repsilber D, Sikora P, Stenmark B, Söderkvist P, Stranneheim H, Strid T, Wheelock CE, Wadelius M, Wedell A, Edsjö A, Rosenquist R. Implementing precision medicine in a regionally organized healthcare system in Sweden. Nature medicine 2022 28:10 1980-1982
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| 2 | Järviaho T, Zachariadis V, Tesi B, Chiang S, Bryceson YT, Möttönen M, Niinimäki R, Bang B, Rahikkala E, Taylan F, Uusimaa J, Harila-Saari A, Nordgren A. Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia. British journal of haematology 2019 185:2 354-357 |
| 3 |
Taylan F, Bang B, Öfverholm II, Tran AN, Heyman M, Barbany G, Zachariadis V, Nordgren A. Somatic Structural Alterations in Childhood Leukemia Can Be Backtracked in Neonatal Dried Blood Spots by Use of Whole-Genome Sequencing and Digital PCR. Clinical chemistry 2019 65:2 345-347
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| 4 |
Hammarsjö A, Nordgren A, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Wedrén S, Nordenskjöld M, Nishimura G, Grigelioniene G. Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu. American journal of medical genetics. Part A 2016 170A:1 266-9
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| 5 |
Marincevic-Zuniga Y, Zachariadis V, Cavelier L, Castor A, Barbany G, Forestier E, Fogelstrand L, Heyman M, Abrahamsson J, Lönnerholm G, Nordgren A, Syvänen AC, Nordlund J. PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia. Haematologica 2016 101:1 e20-3
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| 6 | Tham E, Nishimura G, Geiberger S, Horemuzova E, Nilsson D, Lindstrand A, Hammarsjö A, Armenio M, Mäkitie O, Zabel B, Nordgren A, Nordenskjöld M, Grigelioniene G. Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia. Clinical genetics 2015 87:5 496-8 |
| 7 |
Zachariadis V, Schoumans J, Ofverholm I, Barbany G, Halvardsson E, Forestier E, Johansson B, Nordenskjöld M, Nordgren A. Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization. Leukemia 2014 28:1 196-8
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| 8 |
Paulsson K, Harrison CJ, Andersen MK, Chilton L, Nordgren A, Moorman AV, Johansson B. Distinct patterns of gained chromosomes in high hyperdiploid acute lymphoblastic leukemia with t(1;19)(q23;p13), t(9;22)(q34;q22) or MLL rearrangements. Leukemia 2013 27:4 974-7
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| 9 | Ofverholm I, Tran AN, Heyman M, Zachariadis V, Nordenskjöld M, Nordgren A, Barbany G. Impact of IKZF1 deletions and PAX5 amplifications in pediatric B-cell precursor ALL treated according to NOPHO protocols. Leukemia 2013 27:9 1936-9 |
| 10 |
Barbany G, Gauffin F, Ofverholm I, Karlsson H, Thorn I, Arvidson J, Heyman M, Gustafsson B, Nordgren A. The ETV6/RUNX1 fusion transcript is not detected in RNA isolated from neonatal dried blood spots from children later diagnosed with the corresponding leukemia. LEUKEMIA & LYMPHOMA 2013 54:12 2742-4
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| 11 | Zachariadis V, Schoumans J, Barbany G, Heyman M, Forestier E, Johansson B, Nordenskjöld M, Nordgren A. Homozygous deletions of CDKN2A are present in all dic(9;20)(p13·2;q11·2)-positive B-cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation. British journal of haematology 2012 159:4 488-91 |
| 12 |
Lonnerholm G, Nordgren A, Frost BM, Jonsson OG, Kanerva J, Nygaard R, Schmiegelow K, Larsson R, Forestier E, Nordic Soc Paediat Haematology & O. Dic(9;20)(p13;q11) in childhood acute lymphoblastic leukaemia is related to low cellular resistance to asparaginase, cytarabine and corticosteroids. LEUKEMIA 2009 23:1 209-12
View record in PubMed® View record in Web of Science® Fulltext: https://doi.org/10.1038/leu.2008.179 |
| 13 |
Kuchinskaya E, Nordgren A, Heyman M, Schoumans J, Corcoran M, Staaf J, Borg A, Soderhall S, Grander D, Nordenskjold M, Blennow E. Tiling-resolution array-CGH reveals the pattern of DNA copy number alterations in acute lymphoblastic leukemia with 21q amplification: the result of telomere dysfunction and breakage/fusion/breakage cycles?. LEUKEMIA 2007 21:6 1327-30
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Editorial
| 1 |
Baynam GS, Groft S, van der Westhuizen FH, Gassman SD, du Plessis K, Coles EP, Selebatso E, Selebatso M, Gaobinelwe B, Selebatso T, Joel D, Llera VA, Vorster BC, Wuebbels B, Djoudalbaye B, Austin CP, Kumuthini J, Forman J, Kaufmann P, Chipeta J, Gavhed D, Larsson A, Stojiljkovic M, Nordgren A, Roldan EJA, Taruscio D, Wong-Rieger D, Nowak K, Bilkey GA, Easteal S, Bowdin S, Reichardt JKV, Beltran S, Kosaki K, van Karnebeek CDM, Gong M, Shuyang Z, Mehrian-Shai R, Adams DR, Puri RD, Zhang F, Pachter N, Muenke M, Nellaker C, Gahl WA, Cederroth H, Broley S, Schoonen M, Boycott KM, Posada M. A call for global action for rare diseases in Africa. Nature genetics 2020 52:1 21-26
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| 2 |
Schuster J, Sobol M, Fatima A, Khalfallah A, Laan L, Anderlid BM, Nordgren A, Dahl N. Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant. Stem cell research 2019 39: 101518-
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Other
| 1 |
Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, Du B, Barnett C, Thompson E, Shaw M, Carroll R, Friend K, Catford R, Palmer EE, Zou X, Ou J, Li H, Guo H, Gerdts J, Avola E, Calabrese G, Elia M, Greco D, Lindstrand A, Nordgren A, Anderlid BM, Vandeweyer G, Van Dijck A, Van der Aa N, McKenna B, Hancarova M, Bendova S, Havlovicova M, Malerba G, Bernardina BD, Muglia P, van Haeringen A, Hoffer MJV, Franke B, Cappuccio G, Delatycki M, Lockhart PJ, Manning MA, Liu P, Scheffer IE, Brunetti-Pierri N, Rommelse N, Amaral DG, Santen GWE, Trabetti E, Sedláček Z, Michaelson JJ, Pierce K, Courchesne E, Kooy RF, Nordenskjöld M, Romano C, Peeters H, Bernier RA, Gecz J, Xia K, Eichler EE, SPARK Consortium. Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature communications 2020 11:1 5398-
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| 2 |
Frisk S, Grandpeix-Guyodo C, Popovic Silwerfeldt K, Hjartarson HT, Chatzianastassiou D, Magnusson I, Laurell T, Nordgren A. Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature. Clinical case reports 2018 6:11 2103-2110
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| 3 |
Nordgren A, Lundin J, Malmgren H, Lehtihet M, Anderlid B. Atypical deletion in the Prader Willi region. CHROMOSOME RESEARCH 2009 17: 80-81
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| 4 |
Davidsson J, Paulsson K, Lindgren D, Lilljebjorn H, Chaplin T, Forestier E, Andersen MK, Nordgren A, Rosenquist R, Fioretos T, Young BD, Johansson B. Relapsed Childhood High Hyperdiploid Acute Lymphoblastic Leukemia: Genome-Wide Screening Reveals the Presence of Preleukemic Ancestral Clones and the Secondary Nature of Microdeletions and RTK-RAS Mutations. BLOOD 2009 114:22 1017-1017
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| 5 |
Kuchinskaya E, Nordgren A, Heyman M, Schoumans J, Corcoran M, Staaf J, Borg A, Soderhall S, Grander D, Nordenskjold M. Hidden unbalanced chromosomal abnormalities revealed by tiling array-CGH in children with acute lymphoblastic leukemia with normal G-banding karyotype. CELLULAR ONCOLOGY 2007 29:2 118-119
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| 6 |
Blennow E, Nordgren A, Farnebo F, Soderhall S, Nordenskjold M. Characterization of chromosomal changes in 17 children with acute lymphoblastic leukemia and hyperdiploidy using spectral karyotyping (SKY). PEDIATRIC RESEARCH 1999 45:4 144A-144A
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