Bocian E - Search Results

1

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: bocian 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.

2

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. Med Sci Monit. 2004 Apr;10(4):CR143-51. Med Sci Monit. 2004. PMID: 15039644

3

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.

Borg K, Stankiewicz P, Bocian E, Kruczek A, Obersztyn E, Lupski JR, Mazurczak T. Borg K, et al. Among authors: bocian e. Hum Genet. 2005 Nov;118(2):267-75. doi: 10.1007/s00439-005-0021-0. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16160854

4

[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. Among authors: bocian e. Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):199-209. Med Wieku Rozwoj. 2006. PMID: 17028389 Polish.

5

Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH.

Stankiewicz P, Kostyk E, Bocian E, Stańczak H, Parczewska J, Piatkowska E, Mazurczak T, Pietrzyk JJ. Stankiewicz P, et al. Among authors: bocian e. J Med Genet. 1997 Aug;34(8):696-9. doi: 10.1136/jmg.34.8.696. J Med Genet. 1997. PMID: 9279768 Free PMC article.

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: bocian 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: bocian 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

[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. Among authors: bocian e. Med Wieku Rozwoj. 2003 Jul-Sep;7(3):389-401. Med Wieku Rozwoj. 2003. PMID: 14963346 Polish.

9

Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(p15.33q35.3).

Bocian E, Suchenek K, Obersztyn E, Nowakowska B, Mazurczak T. Bocian E, et al. J Appl Genet. 2005;46(1):109-14. J Appl Genet. 2005. PMID: 15741672

10

[Subtelomeric aberration as a cause of severe somatic and psychomotor retardation in a child with dysmorphic features and CNS defects].

Kutkowska-Kaźmierczak A, Obersztyn E, Helias-Rodzewicz Z, Bocian E, Mazurczak T. Kutkowska-Kaźmierczak A, et al. Among authors: bocian e. Med Wieku Rozwoj. 2004 Oct-Dec;8(4 Pt 1):949-62. Med Wieku Rozwoj. 2004. PMID: 15951614 Polish.

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