Obersztyn E - Search Results

1

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Palomares M, Delicado A, Mansilla E, de Torres ML, Vallespín E, Fernandez L, Martinez-Glez V, García-Miñaur S, Nevado J, Simarro FS, Ruiz-Perez VL, Lynch SA, Sharkey FH, Thuresson AC, Annerén G, Belligni EF, Martínez-Fernández ML, Bermejo E, Nowakowska B, Kutkowska-Kazmierczak A, Bocian E, Obersztyn E, Martínez-Frías ML, Hennekam RC, Lapunzina P. Palomares M, et al. Among authors: obersztyn e. Am J Hum Genet. 2011 Aug 12;89(2):295-301. doi: 10.1016/j.ajhg.2011.06.012. Epub 2011 Jul 28. Am J Hum Genet. 2011. PMID: 21802062 Free PMC article.

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

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

4

[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.

5

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.

6

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

7

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.

8

[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.

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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