Obersztyn E - Search Results

1

Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.

Rzońca SO, Gos M, Szopa D, Sielska-Rotblum D, Landowska A, Szpecht-Potocka A, Milewski M, Czekajska J, Abramowicz A, Obersztyn E, Maciejko D, Mazurczak T, Bal J. Rzońca SO, et al. Among authors: obersztyn e. Genes (Basel). 2016 Sep 2;7(9):59. doi: 10.3390/genes7090059. Genes (Basel). 2016. PMID: 27598204 Free PMC article.

2

[Prenatal diagnosis in genetic counseling in the light of our experience].

Mazurczak T, Mikiel-Kostyra K, Obersztyn E. Mazurczak T, et al. Among authors: obersztyn e. Pediatr Pol. 1984 Nov;59(11):925-9. Pediatr Pol. 1984. PMID: 6535962 Polish. No abstract available.

3

[A study evaluating the correlation between the phenotype and genotype among 65 cystic fibrosis patients].

Nowakowska A, Bal J, Obersztyn E, Sands D, Maciejko D, Mazurczak T. Nowakowska A, et al. Among authors: obersztyn e. Pediatr Pol. 1995 Aug;70(8):633-8. Pediatr Pol. 1995. PMID: 8668363 Polish.

4

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

5

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

6

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

7

[Report on the II International Conference on the Prader-Willi syndrome. June 15-17 1995, Oslo (Norway)].

Szpecht-Potocka A, Obersztyn E. Szpecht-Potocka A, et al. Among authors: obersztyn e. Pediatr Pol. 1996 Jan;71(1):72-3. Pediatr Pol. 1996. PMID: 8966073 Polish. No abstract available.

8

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.

9

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

10

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

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