Obersztyn E - Search Results

1

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

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

[Partial trisomy of chromosome 13--diagnosis confirmed with the FISH in situ hybridization technique].

Obersztyn E, Stankiewicz P, Bocian E, Stańczak H, Mazurczak T. Obersztyn E, et al. Pediatr Pol. 1996 Mar;71(3):247-52. Pediatr Pol. 1996. PMID: 8966097 Polish.

6

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.

7

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

8

Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies.

Hélias-Rodzewicz Z, Bocian E, Stankiewicz P, Obersztyn E, Kostyk E, Jakubów-Durska K, Kutkowska-Kaźmierczak A, Mazurczak T. Hélias-Rodzewicz Z, et al. Among authors: obersztyn e. J Med Genet. 2002 Sep;39(9):e53. doi: 10.1136/jmg.39.9.e53. J Med Genet. 2002. PMID: 12205123 Free PMC article. No abstract available.

9

[Case of subtelomeric aberration as a cause of familial intellectual disability with congenital defects and dysmorphic features--problems of diagnosis and genetic counseling].

Obersztyn E, Mazurczak T, Helias-Rodzewicz Z, Bocian E, Kutkowska-Kazmierczak A. Obersztyn E, et al. Med Wieku Rozwoj. 2003 Jul-Sep;7(3):389-401. Med Wieku Rozwoj. 2003. PMID: 14963346 Polish.

10

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

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