Obersztyn E - Search Results

1

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

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

[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.

10

[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.

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