Obersztyn E - Search Results

1

CAV3 mutation in a patient with transient hyperCKemia and myalgia.

Macias A, Gambin T, Szafranski P, Jhangiani SN, Kolasa A, Obersztyn E, Lupski JR, Stankiewicz P, Kaminska A. Macias A, et al. Among authors: obersztyn e. Neurol Neurochir Pol. 2016 Nov-Dec;50(6):468-473. doi: 10.1016/j.pjnns.2016.06.008. Epub 2016 Jul 9. Neurol Neurochir Pol. 2016. PMID: 27772553

2

Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.

Stankiewicz P, Bocian E, Jakubów-Durska K, Obersztyn E, Lato E, Starke H, Mroczek K, Mazurczak T. Stankiewicz P, et al. Among authors: obersztyn e. J Med Genet. 2000 Feb;37(2):114-20. doi: 10.1136/jmg.37.2.114. J Med Genet. 2000. PMID: 10662811 Free PMC article.

3

Cytogenetic and molecular characterization of two isodicentric Y chromosomes.

Stankiewicz P, Hélias-Rodzewicz Z, Jakubów-Durska K, Bocian E, Obersztyn E, Rappold GA, Mazurczak T. Stankiewicz P, et al. Among authors: obersztyn e. Am J Med Genet. 2001 Jun 1;101(1):20-5. doi: 10.1002/ajmg.1304. Am J Med Genet. 2001. PMID: 11343332

4

Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation.

Bocian E, Hélias-Rodzewicz Z, Suchenek K, Obersztyn E, Kutkowska-Kaźmierczak A, Stankiewicz P, Kostyk E, Mazurczak T. Bocian E, et al. Among authors: obersztyn e. Med Sci Monit. 2004 Apr;10(4):CR143-51. Med Sci Monit. 2004. PMID: 15039644

5

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.

Borg K, Stankiewicz P, Bocian E, Kruczek A, Obersztyn E, Lupski JR, Mazurczak T. Borg K, et al. Among authors: obersztyn e. Hum Genet. 2005 Nov;118(2):267-75. doi: 10.1007/s00439-005-0021-0. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16160854

6

Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.

Smyk M, Obersztyn E, Nowakowska B, Bocian E, Cheung SW, Mazurczak T, Stankiewicz P. Smyk M, et al. Among authors: obersztyn e. Am J Med Genet A. 2007 Apr 15;143A(8):866-70. doi: 10.1002/ajmg.a.31631. Am J Med Genet A. 2007. PMID: 17352389

7

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.

Pietrzak J, Mrasek K, Obersztyn E, Stankiewicz P, Kosyakova N, Weise A, Cheung SW, Cai WW, von Eggeling F, Mazurczak T, Bocian E, Liehr T. Pietrzak J, et al. Among authors: obersztyn e. J Appl Genet. 2007;48(2):167-75. doi: 10.1007/BF03194675. J Appl Genet. 2007. PMID: 17495351

8

A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.

Nowakowska B, Kutkowska-Kaźmierczak A, Stankiewicz P, Bocian E, Obersztyn E, Ou Z, Cheung SW, Cai WW. Nowakowska B, et al. Among authors: obersztyn e. Am J Med Genet A. 2007 Aug 15;143A(16):1885-9. doi: 10.1002/ajmg.a.31845. Am J Med Genet A. 2007. PMID: 17632781

9

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

10

Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.

Smyk M, Obersztyn E, Nowakowska B, Nawara M, Cheung SW, Mazurczak T, Stankiewicz P, Bocian E. Smyk M, et al. Among authors: obersztyn e. Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):799-806. doi: 10.1002/ajmg.b.30683. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 18165974

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