Nowakowska B - Search Results

1

[Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities].

Borg K, Bocian E, Stankiewicz P, Obersztyn E, Kruczek A, Nowakowska B, Ilnicka A, Mazurczak T. Borg K, et al. Among authors: nowakowska b. Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):227-46. Med Wieku Rozwoj. 2006. PMID: 17028391 Polish.

2

Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features.

Nowakowska B, Stankiewicz P, Obersztyn E, Ou Z, Li J, Chinault AC, Smyk M, Borg K, Mazurczak T, Cheung SW, Bocian E. Nowakowska B, et al. Am J Med Genet A. 2008 Sep 15;146A(18):2361-9. doi: 10.1002/ajmg.a.32475. Am J Med Genet A. 2008. PMID: 18698622

3

[Molecular cytogenetic techniques and their application in clinical diagnosis].

Nowakowska B, Bocian E. Nowakowska B, et al. Med Wieku Rozwoj. 2004 Jan-Mar;8(1):7-24. Med Wieku Rozwoj. 2004. PMID: 15557693 Review. Polish.

4

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. Among authors: nowakowska b. J Appl Genet. 2005;46(1):109-14. J Appl Genet. 2005. PMID: 15741672

5

[Characterization of marker chromosomes using molecular cytogenetic methods in patients with mental retardation and congenital malformations].

Bocian E, Nowakowska B, Obersztyn E, Borg K, Chudoba I, Kostyk E, Kruczek A, Pietrzyk J, Mazurczak T. Bocian E, et al. Among authors: nowakowska b. Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):211-25. Med Wieku Rozwoj. 2006. PMID: 17028390 Polish.

6

[Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods].

Borg K, Bocian E, Bernaciak J, Nowakowska B, Derwińska K, Obersztyn E, Szczałuba K, Smigiel R, Kostyk E, Mazurczak T. Borg K, et al. Among authors: nowakowska b. Med Wieku Rozwoj. 2009 Apr-Jun;13(2):81-93. Med Wieku Rozwoj. 2009. PMID: 19837989 Polish.

7

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].

Szczałuba K, Obersztyn E, Nowakowska B, Bernaciak J, Fisher C, Gibbons R, Mazurczak T, Bocian E. Szczałuba K, et al. Among authors: nowakowska b. Med Wieku Rozwoj. 2011 Oct-Dec;15(4):437-44. Med Wieku Rozwoj. 2011. PMID: 22516698 Polish.

8

The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.

Bartnik M, Wiśniowiecka-Kowalnik B, Nowakowska B, Smyk M, Kędzior M, Sobecka K, Kutkowska-Kaźmierczak A, Klapecki J, Szczałuba K, Castañeda J, Własienko P, Bezniakow N, Obersztyn E, Bocian E. Bartnik M, et al. Among authors: nowakowska b. Dev Period Med. 2014 Jul-Sep;18(3):307-17. Dev Period Med. 2014. PMID: 25182394

9

A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.

Nowakowska B, Kutkowska-Kaźmierczak A, Stankiewicz P, Bocian E, Obersztyn E, Ou Z, Cheung SW, Cai WW. Nowakowska B, et al. Am J Med Genet A. 2007 Aug 15;143A(16):1885-9. doi: 10.1002/ajmg.a.31845. Am J Med Genet A. 2007. PMID: 17632781

10

Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation.

Borg K, Nowakowska B, Obersztyn E, Cheung SW, Brycz-Witkowska J, Korniszewski L, Mazurczak T, Stankiewicz P, Bocian E. Borg K, et al. Among authors: nowakowska b. Am J Med Genet A. 2007 Nov 15;143A(22):2738-43. doi: 10.1002/ajmg.a.32017. Am J Med Genet A. 2007. PMID: 17937435

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