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Page 1
Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.
Kutkowska-Kaźmierczak A, Rydzanicz M, Chlebowski A, Kłosowska-Kosicka K, Mika A, Gruchota J, Jurkiewicz E, Kowalewski C, Pollak A, Stradomska TJ, Kmieć T, Jakubowski R, Gasperowicz P, Walczak A, Śladowski D, Jankowska-Steifer E, Korniszewski L, Kosińska J, Obersztyn E, Nowak W, Śledziński T, Dziembowski A, Płoski R. Kutkowska-Kaźmierczak A, et al. Among authors: obersztyn e. J Med Genet. 2018 Jun;55(6):408-414. doi: 10.1136/jmedgenet-2017-105172. Epub 2018 Mar 1. J Med Genet. 2018. PMID: 29496980
[Clinical expression of triploidy].
Obersztyn E, Kutkowska-Kazmierczak A, Jakubow-Durska K. Obersztyn E, et al. Med Wieku Rozwoj. 2002 Oct-Dec;6(4):329-36. Med Wieku Rozwoj. 2002. PMID: 12810985 Polish.
Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation.
Borg K, Nowakowska B, Obersztyn E, Cheung SW, Brycz-Witkowska J, Korniszewski L, Mazurczak T, Stankiewicz P, Bocian E. Borg K, et al. Among authors: obersztyn e. Am J Med Genet A. 2007 Nov 15;143A(22):2738-43. doi: 10.1002/ajmg.a.32017. Am J Med Genet A. 2007. PMID: 17937435
Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.
Derwińska K, Mierzewska H, Goszczańska A, Szczepanik E, Xia Z, Kuśmierska K, Tryfon J, Kutkowska-Kaźmierczak A, Bocian E, Mazurczak T, Obersztyn E, Stankiewicz P. Derwińska K, et al. Among authors: obersztyn e. Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):236-42. doi: 10.1002/ajmg.b.32020. Epub 2012 Jan 5. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22223473
Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.
Bartnik M, Nowakowska B, Derwińska K, Wiśniowiecka-Kowalnik B, Kędzior M, Bernaciak J, Ziemkiewicz K, Gambin T, Sykulski M, Bezniakow N, Korniszewski L, Kutkowska-Kaźmierczak A, Klapecki J, Szczałuba K, Shaw CA, Mazurczak T, Gambin A, Obersztyn E, Bocian E, Stankiewicz P. Bartnik M, et al. Among authors: obersztyn e. J Appl Genet. 2014 Feb;55(1):125-44. doi: 10.1007/s13353-013-0181-x. Epub 2013 Dec 3. J Appl Genet. 2014. PMID: 24297458 Free PMC article.
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R. Mierzewska H, et al. Among authors: obersztyn e. Clin Genet. 2017 Jan;91(1):30-37. doi: 10.1111/cge.12792. Epub 2016 Jun 2. Clin Genet. 2017. PMID: 27102849
112 results