Publications for Giedre Grigelioniene
Article
| 1 | Batkovskyte D, Komatsu M, Hammarsjö A, Pooh R, Shimokawa O, Ikegawa S, Grigelioniene G, Nishimura G, Yamada T. Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome. Clinical genetics 2024 105:1 87-91 |
| 2 |
Young C, Batkovskyte D, Kitamura M, Shvedova M, Mihara Y, Akiba J, Zhou W, Hammarsjö A, Nishimura G, Yatsuga S, Grigelioniene G, Kobayashi T. A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay. HGG advances 2023 4:1 100148-
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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 |
Flores AG, Nordgren I, Pettersson M, Dias-Santagata D, Nilsson D, Hammarsjo A, Lindstrand A, Batkovskyte D, Wiggs J, Walton DS, Goldenberg P, Eisfeldt J, Lin AE, Lachman RS, Nishimura G, Grigelioniene G. Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome. FRONTIERS IN GENETICS 2023 14: 1174046-
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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 |
Pacheco NP, Pettersson M, Lindstrand A, Grigelioniene G. Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2023 191:7 1929-1934
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| 7 | Handa A, Grigelioniene G, Nishimura G. Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis. Radiographics : a review publication of the Radiological Society of North America, Inc 2023 43:5 e220067- |
| 8 |
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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| 9 |
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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| 10 |
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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| 11 |
Milioto A, Reyes M, Hanna P, Kiuchi Z, Turan S, Zeve D, Agarwal C, Grigelioniene G, Chen A, Mericq V, Frangos M, Ten S, Mantovani G, Salusky IB, Tebben P, Jüppner H. Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib. The Journal of clinical endocrinology and metabolism 2022 107:4 e1610-e1619
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| 12 | 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 |
| 13 | Xue JY, Grigelioniene G, Wang Z, Nishimura G, Iida A, Matsumoto N, Tham E, Miyake N, Ikegawa S, Guo L. SLC4A2 Deficiency Causes a New Type of Osteopetrosis. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2022 37:2 226-235 |
| 14 |
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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| 15 |
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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| 16 |
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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| 17 |
Handa A, Grigelioniene G, Nishimura G. Radiologic Features of Type II and Type XI Collagenopathies. RADIOGRAPHICS 2021 41:1 192-209
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| 18 |
Chen YH, Grigelioniene G, Newton PT, Gullander J, Elfving M, Hammarsjö A, Batkovskyte D, Alsaif HS, Kurdi WIY, Abdulwahab F, Shanmugasundaram V, Devey L, Bacrot S, Brodszki J, Huber C, Hamel B, Gisselsson D, Papadogiannakis N, Jedrycha K, Gürtl-Lackner B, Chagin AS, Nishimura G, Aschenbrenner D, Alkuraya FS, Laurence A, Cormier-Daire V, Uhlig HH. Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome. The Journal of experimental medicine 2020 217:3
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| 19 |
Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, Xia ZJ, Ng BG, Freeze HH, Gabriel M, Russi AHS, Brick L, Kozenko M, Earl DL, Tham E, Nishimura G, Phillips JA, Gahl WA, Hamid R, Jackson AP, Grigelioniene G, Bober MB. Defining the clinical phenotype of Saul-Wilson syndrome. GENETICS IN MEDICINE 2020 22:5 857-866
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| 20 |
Lindstrand A, Eisfeldt J, Pettersson M, Carvalho CMB, Kvarnung M, Grigelioniene G, Anderlid BM, Bjerin O, Gustavsson P, Hammarsjo A, Georgii-Hemming P, Iwarsson E, Johansson-Soller M, Lagerstedt-Robinson K, Lieden A, Magnusson M, Martin M, Malmgren H, Nordenskjold 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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| 21 |
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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| 22 | 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 |
| 23 |
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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| 24 |
Suzuki HI, Spengler RM, Grigelioniene G, Kobayashi T, Sharp PA. Deconvolution of seed and RNA-binding protein crosstalk in RNAi-based functional genomics. Nature genetics 2018 50:5 657-661
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| 25 |
Merker A, Neumeyer L, Hertel NT, Grigelioniene G, Mohnike K, Hagenäs L. Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length. American journal of medical genetics. Part A 2018 176:9 1819-1829
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| 26 | Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E. Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2018 33:4 753-760 |
| 27 |
Merker A, Neumeyer L, Hertel NT, Grigelioniene G, Mäkitie O, Mohnike K, Hagenäs L. Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort. American journal of medical genetics. Part A 2018 176:8 1723-1734
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| 28 | Grigelioniene G, Nevalainen PI, Reyes M, Thiele S, Tafaj O, Molinaro A, Takatani R, Ala-Houhala M, Nilsson D, Eisfeldt J, Lindstrand A, Kottler ML, Mäkitie O, Jüppner H. A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B). Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2017 32:4 776-783 |
| 29 |
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 |
| 30 |
Andersson K, Dahllöf G, Lindahl K, Kindmark A, Grigelioniene G, Åström E, Malmgren B. Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. PloS one 2017 12:5 e0176466-
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| 31 |
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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| 32 | Malmgren B, Andersson K, Lindahl K, Kindmark A, Grigelioniene G, Zachariadis V, Dahllöf G, Åström E. Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. Oral diseases 2017 23:1 42-49 |
| 33 | Takatani R, Molinaro A, Grigelioniene G, Tafaj O, Watanabe T, Reyes M, Sharma A, Singhal V, Raymond FL, Linglart A, Jüppner H. Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2016 31:4 796-805 |
| 34 |
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
View record in PubMed® View record in Web of Science® Fulltext: https://doi.org/10.1038/ejhg.2015.91 |
| 35 |
Handa A, Tham E, Wang Z, Horemuzova E, Grigelioniene G. Autosomal recessive brachyolmia: early radiological findings. Skeletal radiology 2016 45:11 1557-60
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| 36 |
Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T, Alswaid A, Albalwi MA, Kim OH, Cho TJ, Lim GY, Isidor B, David A, Rustad CF, Merckoll E, Westvik J, Stattin EL, Grigelioniene G, Kou I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G, Ikegawa S. Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. PloS one 2016 11:3 e0150555-
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| 37 |
Lindahl K, Kindmark A, Rubin CJ, Malmgren B, Grigelioniene G, Söderhäll S, Ljunggren Ö, Åström E. Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate. Bone 2016 87: 11-8
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| 38 |
Kuchinskaya E, Grigelioniene G, Hammarsjö A, Lee HR, Högberg L, Grigelionis G, Kim OH, Nishimura G, Cho TJ. Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis. Orphanet journal of rare diseases 2016 11: 1-
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| 39 | Taylan F, Costantini A, Coles N, Pekkinen M, Héon E, Şıklar Z, Berberoğlu M, Kämpe A, Kıykım E, Grigelioniene G, Tüysüz B, Mäkitie O. Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2016 31:8 1577-85 |
| 40 |
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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| 41 |
Lindahl K, Åström E, Rubin CJ, Grigelioniene G, Malmgren B, Ljunggren Ö, Kindmark A. Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. European journal of human genetics : EJHG 2015 23:8 1042-50
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| 42 | 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 |
| 43 | 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 |
| 44 |
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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| 45 |
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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| 46 |
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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| 47 |
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 |
| 48 |
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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| 49 |
Unger S, Gorna MW, Le Bechec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnan C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafe L, Superti-Furga G, Stevenson B, Superti-Furga A. FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development. AMERICAN JOURNAL OF HUMAN GENETICS 2013 92:6 990-5
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| 50 |
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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| 51 |
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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| 52 | 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 |
| 53 |
Grigelioniene G, Papadogiannakis N, Conner P, Geiberger S, Nishikawa M, Nakayama M. Extending the Phenotype of Lethal Skeletal Dysplasia Type al Gazali. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2011 155A:6 1404-8
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| 54 |
Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa S, Fukao T, Marcelis C, Jansweijer MCE, Hennekam RCM, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. JOURNAL OF MEDICAL GENETICS 2010 47:10 704-9
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| 55 |
Thomas NS, Harvey JF, Bunyan DJ, Rankin J, Grigelioniene G, Bruno DL, Tan TY, Tomkins S, Hastings R. Clinical and Molecular Characterization of Duplications Encompassing the Human SHOX Gene Reveal a Variable Effect on Stature. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2009 149A:7 1407-14
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| 56 |
Heinz-Erian P, Muller T, Krabichler B, Schranz M, Becker C, Ruschendorf F, Nurnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CMF, Rosipal S, Mistrik M, Kappler M, Michaud L, Doczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR. Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea. AMERICAN JOURNAL OF HUMAN GENETICS 2009 84:2 188-96
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| 57 |
Hansson CM, Buckley PG, Grigelioniene G, Piotrowski A, Hellstrom AR, Mantripragada K, Jarbo C, Mathiesen T, Dumanski JP. Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus. BMC GENOMICS 2007 8: 16-
View record in PubMed® View record in Web of Science® Fulltext: https://doi.org/10.1186/1471-2164-8-16 |
| 58 |
Laurencikas E, Soderman E, Grigelioniene G, Hagenas L, Jorulf H. Metacarpophalangeal pattern profile analysis in Leri-Weill dyschondrosteosis. ACTA RADIOLOGICA 2005 46:2 200-7
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| 59 |
Ross JL, Bellus G, Scott CI, Abboudi J, Grigelioniene G, Zinn AR. Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2003 116A:1 61-5
View record in PubMed® View record in Web of Science® Fulltext: https://doi.org/10.1002/ajmg.a.10807 |
| 60 |
Grigelioniene G, Schoumans J, Neumeyer L, Ivarsson SA, Eklof O, Enkvist O, Tordai P, Fosdal I, Myhre AG, Westphal O, Nilsson NO, Elfving M, Ellis I, Anderlid BM, Fransson I, Tapia-Paez I, Nordenskjold M, Hagenas L, Dumanski JP. Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity. HUMAN GENETICS 2001 109:5 551-8
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| 61 | Grigelioniene G, Eklof O, Laurencikas E, Ollars B, Hertel NT, Dumanski JP, Hagenas L. Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia. ACTA PAEDIATRICA 2000 89:9 1072-6 |
| 62 |
Ritzen EM, Nilsson O, Grigelioniene G, Holst M, Savendahl L, Wroblewski J. Estrogens and human growth. JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY 2000 74:5 383-6
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| 63 |
Grigelioniene G, Eklof O, Ivarsson SA, Westphal O, Neumeyer L, Kedra D, Dumanski J, Hagenas L. Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. HUMAN GENETICS 2000 107:2 145-9
View record in PubMed® View record in Web of Science® Fulltext: https://doi.org/10.1007/s004390000352 |
| 64 |
Nilsson LO, Boman A, Savendahl L, Grigelioniene G, Ohlsson C, Ritzen EM, Wroblewski J. Demonstration of estrogen receptor-beta immunoreactivity in human growth plate cartilage. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 1999 84:1 370-3
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| 65 |
Grigelioniene G, Hagenas L, Eklof O, Neumeyer L, Haereid PE, Anvret M. A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. HUMAN MUTATION 1998 11:4 333-
View record in PubMed® View record in Web of Science® Fulltext: https://doi.org/10.1002/(SICI)1098-1004(1998)11:4<333::AID-HUMU18>3.0.CO;2-G |
| 66 |
Grigelioniene G, Blennow M, Torok C, Fried G, Dahlin I, Lendahl U, Lagercrantz H. Cerebrospinal fluid of newborn infants contains a deglycosylated form of the intermediate filament nestin. PEDIATRIC RESEARCH 1996 40:6 809-14
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Review
| 1 |
Handa A, Voss U, Hammarsjö A, Grigelioniene G, Nishimura G. Skeletal ciliopathies: a pattern recognition approach. Japanese journal of radiology 2020 38:3 193-206
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Letter
| 1 | Tham E, Grigelionis G, Hammarsjö A, Grigelioniene G. Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2018 33:7 1377-1378 |
| 2 |
Pekkinen M, Grigelioniene G, Akin L, Shah K, Karaer K, Kurtoglu S, Ekbote A, Aycan Z, Sagsak E, Danda S, Astrom E, Makitie O. Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2017 173:12 3132-3135
View record in PubMed® View record in Web of Science® Fulltext: https://doi.org/10.1002/ajmg.a.38491 |
| 3 |
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
View record in PubMed® View record in Web of Science® Fulltext: https://doi.org/10.1002/ajmg.a.37387 |
| 4 | 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 |
Other
| 1 |
Solyom A, Mitchell J, Ehlert K, Tanpaiboon P, Magnusson B, Grigelioniene G, Hugle B, Guelbert N, Arslan N, Makay B, Ozen S, Batu ED, Selim L, Hadipour Z, Hadipour F, Cuevas-Cid A, Puri R, Simonaro C, He XX, Schuchman E. Farber disease is characterized by typical features but a broad phenotypic spectrum: Selected information from a cohort of 37 patients. MOLECULAR GENETICS AND METABOLISM 2016 117:2 S107-S107
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| 2 |
Solyom A, Ehlert K, Hugle B, Magnusson B, Grigelioniene G, Guelbert N, Gardner-Medwin J, Tanpaiboon P, Jung L, Puri R, DiRocco M, Mitchell J, Beck M, Simonaro C, Schuchman E. FARBER DISEASE: FIRST NATURAL HISTORY COHORT DEMONSTRATES A BROAD CLINICAL SPECTRUM WITH IMPLICATIONS FOR JUVENILE IDIOPATHIC ARTHRITIS PATIENTS. ANNALS OF THE RHEUMATIC DISEASES 2015 74: 838-839
View record in Web of Science® Fulltext: https://doi.org/10.1136/annrheumdis-2015-eular.6024 |
| 3 |
Solyom A, Huegle B, Magnusson B, Makay B, Arslan N, Mitchell J, Tanpaiboon P, Guelbert N, Puri R, Jung L, Grigelioniene G, Ehlert K, Beck M, Simonaro C, Schuchman E. Farber Disease: Important Differential Diagnostic Information for JIA and Other Inflammatory Arthritis Phenotypes Is Revealed By Data from the Largest Clinical Cohort to Date. ARTHRITIS & RHEUMATOLOGY 2015 67:
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| 4 |
Anderlid B, Grigelioniene G, Schoumans J, Kvarnung M, Ann N. Array-CGH as a method for detection of monogenic disorders. CHROMOSOME RESEARCH 2009 17: 187-187
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| 5 |
Lindgren AC, Lindstrand A, Hagenas L, Malmgren H, Blennow E, Grigelioniene G. Genotype-phenotype variations in a family with an unique X to 15 rearrangement. HORMONE RESEARCH 2009 72: 241-241
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| 6 |
Blennow M, Grigelioniene G, Torok C, Lendahl U, Lagercrantz F. The embryonic intermediate filament protein nestin is present in the cerebrospinal fluid of NICU infants.. PEDIATRIC RESEARCH 1996 39:4 2223-2223
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