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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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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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Bryant P, Walton Bernstedt S, Thutkawkorapin J, Backman AS, Lindblom A, Lagerstedt-Robinson K. Exome sequencing in a Swedish family with PMS2 mutation with varying penetrance of colorectal cancer: investigating the presence of genetic risk modifiers in colorectal cancer risk. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2023 32:2 113-118
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Paucar M, Laffita-Mesa J, Niemelä V, Malmgren H, Nennesmo I, Lagerstedt-Robinson K, Nordenskjöld M, Svenningsson P. Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders. Journal of the neurological sciences 2023 451: 120707-
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Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novaković S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes. The Lancet. Oncology 2023 24:1 91-106
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Maya-González C, Wessman S, Lagerstedt-Robinson K, Taylan F, Tesi B, Kuchinskaya E, McCluggage WG, Poluha A, Holm S, Nergårdh R, Díaz De Ståhl T, Höybye C, Tettamanti G, Delgado-Vega AM, Skarin Nordenvall A, 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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Nordenskjold A, Lagerstedt-Robinson K, Anderlid BM, Lundin J. Tissue specific trisomy 15 mosaicism associated with urogenital malformations. EUROPEAN JOURNAL OF MEDICAL GENETICS 2023 66:10 104824-
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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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Lagerstedt-Robinson K, Baranowska Körberg I, Tsiaprazis S, Björck E, Tham E, Poluha A, Hellström Pigg M, Paulsson-Karlsson Y, Nordenskjöld M, Johansson-Soller M, Aravidis C. A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population. PloS one 2022 17:2 e0264056-
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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-
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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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Svensson S, Zagoras T, Aravidis C, Askmalm MS, Björck E, Borg Å, Kuchinskaya E, Nilbert M, Nordling M, Rohlin A, Silander G, Lagerstedt-Robinson K, Gebre-Medhin S. Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort. Genes, chromosomes & cancer 2022 61:10 585-591
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Eisfeldt J, Rezayee F, Pettersson M, Lagerstedt K, Malmgren H, Falk A, Grigelioniene G, Lindstrand A. Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation. Human mutation 2022 43:11 1567-1575
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Rasi C, Nilsson D, Magnusson M, Lesko N, Lagerstedt-Robinson K, Wedell A, Lindstrand A, Wirta V, Stranneheim H. PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network. Human mutation 2022 43:6 708-716
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Persani L, Cools M, Ioakim S, Faisal Ahmed S, Andonova S, Avbelj-Stefanija M, Baronio F, Bouligand J, Bruggenwirth HT, Davies JH, De Baere E, Dzivite-Krisane I, Fernandez-Alvarez P, Gheldof A, Giavoli C, Gravholt CH, Hiort O, Holterhus PM, Juul A, Krausz C, Lagerstedt-Robinson K, McGowan R, Neumann U, Novelli A, Peyrassol X, Phylactou LA, Rohayem J, Touraine P, Westra D, Vezzoli V, Rossetti R. The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres. Endocrine connections 2022 11:12
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Smeds H, Wales J, Karltorp E, Anderlid BM, Henricson C, Asp F, Anmyr L, Lagerstedt-Robinson K, Löfkvist U. X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4. Ear and hearing 2022 43:1 53-69
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Hammarsjö 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 BH, Horemuzova E, Hyodo H, Korņejeva 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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Helgadottir HT, Thutkawkorapin J, Rohlin A, Nordling M, Lagerstedt-Robinson K, Lindblom A. Identification of known and novel familial cancer genes in Swedish colorectal cancer families. International journal of cancer 2021 149:3 627-634
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Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, Engvall M, Anderlid BM, Arnell H, Johansson CB, Barbaro M, Björck E, Bruhn H, Eisfeldt J, Freyer C, Grigelioniene G, Gustavsson P, Hammarsjö A, Hellström-Pigg M, Iwarsson E, Jemt A, Laaksonen M, Enoksson SL, Malmgren H, Naess K, Nordenskjöld M, Oscarson M, Pettersson M, Rasi C, Rosenbaum A, Sahlin E, Sardh E, Stödberg T, Tesi B, Tham E, Thonberg H, Töhönen V, von Döbeln U, Vassiliou D, Vonlanthen S, Wikström AC, Wincent J, Winqvist O, Wredenberg A, Ygberg S, Zetterström 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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Wallander K, Thutkawkorapin J, Sahlin E, Lindblom A, Lagerstedt-Robinson K. Massive parallel sequencing in a family with rectal cancer. Hereditary cancer in clinical practice 2021 19:1 23-
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Helgadottir HT, Thutkawkorapin J, Lagerstedt-Robinson K, Lindblom A. Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes. SCIENTIFIC REPORTS 2021 11:1 14737-
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| 22 |
International Mismatch Repair Consortium. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study. The Lancet. Oncology 2021 22:7 1014-1022
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| 23 |
Winnberg JS, Rudd E, Keranen A, Lagerstedt-Robinson K, Lindblom A, Nilsson M, Lindblad M, Sjodahl K. Increased risk for uterine cancer among first-degree relatives to Swedish gastric cancer patients. HEREDITARY CANCER IN CLINICAL PRACTICE 2020 18:1 12-
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| 24 |
Andréasson M, Lagerstedt-Robinson K, Samuelsson K, Solders G, Blennow K, Paucar M, Svenningsson P. Altered CSF levels of monoamines in hereditary spastic paraparesis 10: A case series. Neurology. Genetics 2019 5:4 e344-
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| 25 |
Okkels H, Lagerstedt-Robinsson K, Wikman FP, Hansen TVO, Lolas I, Lindberg LJ, Krarup HB. Detection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden. Genetic testing and molecular biomarkers 2019 23:9 688-695
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| 26 |
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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| 27 |
Wallander K, Liu W, von Holst S, Thutkawkorapin J, Kontham V, Forsberg A, Lindblom A, Lagerstedt-Robinson K. Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes. Genes, chromosomes & cancer 2019 58:11 775-782
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Olivé M, Engvall M, Ravenscroft G, Cabrera-Serrano M, Jiao H, Bortolotti CA, Pignataro M, Lambrughi M, Jiang H, Forrest ARR, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Viola HM, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial C, Claeys KG, Straathof CSM, Goris A, Freyer C, Lammens M, Bassez G, Kere J, Clemente P, Sejersen T, Udd B, Vidal N, Ferrer I, Edström L, Wedell A, Laing NG. Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions. Nature communications 2019 10:1 1396-
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| 29 |
Juhlin CC, Nilsson IL, Lagerstedt-Robinson K, Stenman A, Bränström R, Tham E, Höög A. Parafibromin immunostainings of parathyroid tumors in clinical routine: a near-decade experience from a tertiary center. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2019 32:8 1082-1094
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Ten Broeke SW, Rodríguez-Girondo M, Suerink M, Aretz S, Bernstein I, Capellá G, Engel C, Gomez-Garcia EB, van Hest LP, von Knebel Doeberitz M, Lagerstedt-Robinson K, Letteboer TGW, Moller P, van Os TA, Pineda M, Rahner N, Olderode-Berends MJW, von Salomé J, Schackert HK, Spruijt L, Steinke-Lange V, Wagner A, Tops CMJ, Nielsen M. The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2019 28:6 1010-1014
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Karimi M, von Salomé J, Aravidis C, Silander G, Askmalm MS, Henriksson I, Gebre-Medhin S, Frödin JE, Björck E, Lagerstedt-Robinson K, Lindblom A, Tham E. A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families. Hereditary cancer in clinical practice 2018 16: 16-
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| 32 |
Danielsson A, Anderlid BM, Stödberg T, Lagerstedt-Robinson K, Klackenberg Arrhenius E, Tedroff K. Benign paroxysmal torticollis of infancy does not lead to neurological sequelae. Developmental medicine and child neurology 2018 60:12 1251-1255
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| 33 |
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
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| 34 |
von Salomé J, Liu T, Keihäs M, Morak M, Holinski-Feder E, Berry IR, Moilanen JS, Baert-Desurmont S, Lindblom A, Lagerstedt-Robinson K. Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation. Familial cancer 2018 17:4 531-537
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| 35 |
Keränen A, Ghazi S, Carlson J, Papadogiannakis N, Lagerstedt-Robinson K, Lindblom A. Testing strategies to reduce morbidity and mortality from Lynch syndrome. Scandinavian journal of gastroenterology 2018 53:12 1535-1540
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| 36 |
von Salomé J, Boonstra PS, Karimi M, Silander G, Stenmark-Askmalm M, Gebre-Medhin S, Aravidis C, Nilbert M, Lindblom A, Lagerstedt-Robinson K. Genetic anticipation in Swedish Lynch syndrome families. PLoS genetics 2017 13:10 e1007012-
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| 37 |
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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| 38 |
Lagerstedt-Robinson K, Rohlin A, Aravidis C, Melin B, Nordling M, Stenmark-Askmalm M, Lindblom A, Nilbert M. Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. Oncology reports 2016 36:5 2823-2835
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| 39 |
Tesi B, Lagerstedt-Robinson K, Chiang SC, Ben Bdira E, Abboud M, Belen B, Devecioglu O, Fadoo Z, Yeoh AE, Erichsen HC, Möttönen M, Akar HH, Hästbacka J, Kaya Z, Nunes S, Patiroglu T, Sabel M, Saribeyoglu ET, Tvedt TH, Unal E, Unal S, Unuvar A, Meeths M, Henter JI, Nordenskjöld M, Bryceson YT. Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis. Genome medicine 2015 7: 130-
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| 40 |
Soderhall C, Lundin J, Lagerstedt-Robinson K, Grigelioniene G, Lackgren G, Kockum CC, Nordenskjold A. A case with bladder exstrophy and unbalanced X chromosome rearrangement. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 2014 24:4 353-9
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| 41 |
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capella G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M, InSiGHT. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. NATURE GENETICS 2014 46:2 107-115
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| 42 |
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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| 43 |
Navarro CL, Esteves-Vieira V, Courrier S, Boyer A, Duong Nguyen T, Huong le TT, Meinke P, Schröder W, Cormier-Daire V, Sznajer Y, Amor DJ, Lagerstedt K, Biervliet M, van den Akker PC, Cau P, Roll P, Lévy N, Badens C, Wehnert M, De Sandre-Giovannoli A. New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update. European journal of human genetics : EJHG 2014 22:8 1002-11
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| 44 |
de Miranda NF, Peng R, Georgiou K, Wu C, Falk Sörqvist E, Berglund M, Chen L, Gao Z, Lagerstedt K, Lisboa S, Roos F, van Wezel T, Teixeira MR, Rosenquist R, Sundström C, Enblad G, Nilsson M, Zeng Y, Kipling D, Pan-Hammarström Q. DNA repair genes are selectively mutated in diffuse large B cell lymphomas. The Journal of experimental medicine 2013 210:9 1729-42
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| 45 |
Engman M, Varghese S, Lagerstedt Robinson K, Malmgren H, Hammarsjö A, Byström B, Lalitkumar PG, Gemzell-Danielsson K. GSTM1 gene expression correlates to leiomyoma volume regression in response to mifepristone treatment. PloS one 2013 8:12 e80114-
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| 46 |
Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Riess A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linne M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ. Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability. HUMAN MUTATION 2013 34:1 237-47
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| 47 |
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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| 48 |
Carlsson G, Fasth A, Berglof E, Lagerstedt-Robinson K, Nordenskjold M, Palmblad J, Henter JI, Fadeel B. Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia. BRITISH JOURNAL OF HAEMATOLOGY 2012 158:3 363-9
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| 49 |
Barbaro M, Cook J, Lagerstedt-Robinson K, Wedell A. Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis. INTERNATIONAL JOURNAL OF ENDOCRINOLOGY 2012 2012: 504904-
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| 50 |
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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| 51 |
Out AA, Tops CMJ, Nielsen M, Weiss MM, van Minderhout IJHM, Fokkema IFAC, Buisine MP, Claes K, Colas C, Fodde R, Fostira F, Franken PF, Gaustadnes M, Heinimann K, Hodgson SV, Hogervorst FBL, Holinski-Feder E, Lagerstedt-Robinson K, Olschwang S, van den Ouweland AMW, Redeker EJW, Scott RJ, Vankeirsbilck B, Gronlund RV, Wijnen JT, Wikman FP, Aretz S, Sampson JR, Devilee P, den Dunnen JT, Hes FJ. Leiden Open Variation Database of the MUTYH Gene. HUMAN MUTATION 2010 31:11 1205-15
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| 52 |
Chen YG, Thai HTT, Lundin J, Lagerstedt-Robinson K, Zhao ST, Markljung E, Nordenskjold A. Mutational study of the MAMLD1-gene in hypospadias. EUROPEAN JOURNAL OF MEDICAL GENETICS 2010 53:3 122-6
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| 53 |
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Bjorck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RCM, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, LeMerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KOJ, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. EUROPEAN JOURNAL OF HUMAN GENETICS 2010 18:8 872-80
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| 54 |
Hammar B, Bjorck E, Lind H, Lagerstedt K, Dellby A, Fagerholm P. Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis. ACTA OPHTHALMOLOGICA 2009 87:6 659-65
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| 55 |
Lagerstedt-Robinson K, Svenningsson A, Nordenskjold A. No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis. JOURNAL OF HUMAN GENETICS 2009 54:12 706-8
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| 56 |
Svenningsson A, Lagerstedt K, Omrani MD, Nordenskjold A. Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis. JOURNAL OF PEDIATRIC SURGERY 2008 43:3 443-6
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| 57 |
Clendenning M, Senter L, Hampel H, Robinson KL, Sun S, Buchanan D, Walsh MD, Nilbert M, Green J, Potter J, Lindblom A, de la Chapelle A. A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. JOURNAL OF MEDICAL GENETICS 2008 45:6 340-5
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| 58 |
Hammar B, Bjorck E, Lagerstedt K, Dellby A, Fagerholm P. A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance. ACTA OPHTHALMOLOGICA 2008 86:7 758-63
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| 59 |
Thai HTT, Soderhall C, Lagerstedt K, Omrani MD, Frisen L, Lundin J, Kockum I, Nordenskjold A. A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1. HUMAN GENETICS 2008 124:2 155-60
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| 60 |
Wincent J, Holmberg E, Stromland K, Soller M, Mirzaei L, Djureinovic T, Robinson KL, Anderlid BM, Schoumans J. CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. CLINICAL GENETICS 2008 74:1 31-8
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| 61 |
Blennow E, Lagerstedt K, Malmgren H, Sahlen S, Schoumans J, Anderlid BM. Concurrent microdeletion and duplication of 22q11.2. CLINICAL GENETICS 2008 74:1 61-7
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| 62 |
Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, Lindblom A, Lagerstedt K, Thibodeau SN, Lindor NM, Young J, Winship I, Dowty JG, White DM, Hopper JL, Baglietto L, Jenkins MA, de la Chaple A. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. GASTROENTEROLOGY 2008 135:2 419-28
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| 63 |
Beleza-Meireles A, Lundberg F, Lagerstedt K, Zhou XL, Omrani D, Frisen L, Nordenskjold A. FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias. EUROPEAN JOURNAL OF HUMAN GENETICS 2007 15:4 405-10
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| 64 |
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