Obersztyn E - Search Results

1

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.

Gos M, Fahiminiya S, Poznański J, Klapecki J, Obersztyn E, Piotrowicz M, Wierzba J, Posmyk R, Bal J, Majewski J. Gos M, et al. Among authors: obersztyn e. Am J Med Genet A. 2014 Sep;164A(9):2310-6. doi: 10.1002/ajmg.a.36646. Epub 2014 Jun 17. Am J Med Genet A. 2014. PMID: 24939608 No abstract available.

2

Frequency of Fra X syndrome among institutionalized mentally retarded males in Poland.

Mazurczak T, Bocian E, Milewski M, Obersztyn E, Stańczak H, Bal J, Szamotulska K, Karwacki MW. Mazurczak T, et al. Among authors: obersztyn e. Am J Med Genet. 1996 Jul 12;64(1):184-6. doi: 10.1002/(SICI)1096-8628(19960712)64:1<184::AID-AJMG32>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8826472

3

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.

Milewski M, Zygulska M, Bal J, Deelen WH, Obersztyn E, Bocian E, Halley DJ, Horst J, Mazurczak T. Milewski M, et al. Among authors: obersztyn e. Acta Biochim Pol. 1996;43(2):383-8. Acta Biochim Pol. 1996. PMID: 8862184

4

Molecular and clinical studies of Polish patients with Prader-Willi syndrome.

Szpecht-Potocka A, Obersztyn E, Karwacki M, Bocian E, Bal J, Mazurczak T. Szpecht-Potocka A, et al. Among authors: obersztyn e. Acta Genet Med Gemellol (Roma). 1996;45(1-2):273-6. doi: 10.1017/s0001566000001446. Acta Genet Med Gemellol (Roma). 1996. PMID: 8872045

5

High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness.

Wiszniewski W, Sobieszczanska-Radoszewska L, Nowakowska-Szyrwinska E, Obersztyn E, Bal J. Wiszniewski W, et al. Among authors: obersztyn e. Genet Test. 2001 Summer;5(2):147-8. doi: 10.1089/109065701753145637. Genet Test. 2001. PMID: 11551103

6

Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.

Szczaluba K, Hilbert K, Obersztyn E, Zabel B, Mazurczak T, Kozlowski K. Szczaluba K, et al. Among authors: obersztyn e. Am J Med Genet A. 2005 Nov 1;138(4):379-83. doi: 10.1002/ajmg.a.30969. Am J Med Genet A. 2005. PMID: 16222676

7

[Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features].

Obersztyn E, Klapecki J, Helias-Rodzewicz Z, Bocian E, Mazurczak T. Obersztyn E, et al. Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):199-209. Med Wieku Rozwoj. 2006. PMID: 17028389 Polish.

8

[Clinical symptoms and molecular pathogenesis of Noonan syndrome--current concepts].

Klapecki J, Obersztyn E, Laniewski-Wollk M, Szpecht-Potocka A, Mazurczak T. Klapecki J, et al. Among authors: obersztyn e. Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):289-308. Med Wieku Rozwoj. 2006. PMID: 17028394 Review. Polish.

9

[Variability in clinical expression of Noonan syndrome--the report of two familial cases].

Klapecki J, Obersztyn E, Łaniewski-Wołłk M, Szpecht-Potocka A, Mazurczak T. Klapecki J, et al. Among authors: obersztyn e. Wiad Lek. 2008;61(1-3):74-81. Wiad Lek. 2008. PMID: 18717048 Polish.

10

[Analysis of genomic imprinting defects in Angelman syndrome with application of quantitative real-time PCR].

Szpecht-Potocka A, Gos M, Struniawski R, Obersztyn E, Bal J. Szpecht-Potocka A, et al. Among authors: obersztyn e. Med Wieku Rozwoj. 2009 Apr-Jun;13(2):114-22. Med Wieku Rozwoj. 2009. PMID: 19837991 Polish.

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