Kutkowska-Kaźmierczak A - Search Results

1

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

2

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. 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.

3

[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.

4

[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.

5

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

6

[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. Med Wieku Rozwoj. 2004 Oct-Dec;8(4 Pt 1):949-62. Med Wieku Rozwoj. 2004. PMID: 15951614 Polish.

7

[Prenatal diagnosis of Crouzon syndrome--actual diagnostic possibilities].

Jaczyńska R, Kutkowska-Kaźmierczak A, Obersztyn E, Niemiec KT, Leibschang J, Ceran A, Kowalska B, Furmanek M, Sucharski P. Jaczyńska R, et al. Ginekol Pol. 2006 Feb;77(2):138-45. Ginekol Pol. 2006. PMID: 16736972 Polish.

8

[Variable clinical expression of familial Incontinentia Pigmenti syndrome - presentation of three cases].

Kutkowska-Kaźmierczak A, Obersztyn E, Bonnefont JP, Rosińska-Borkowska D, Mazurczak T, Sobczyńska-Tomaszewska A, Mazurczak T. Kutkowska-Kaźmierczak A, et al. Med Wieku Rozwoj. 2008 Jul-Sep;12(3):748-53. Med Wieku Rozwoj. 2008. PMID: 19305025 Polish.

9

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

Jezela-Stanek A, Ciara E, Małunowicz E, Chrzanowska K, Latos-Bieleńska A, Krajewska-Walasek M; Smith-Lemli-Opitz syndrome Collaborative Group. Jezela-Stanek A, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S241-8. doi: 10.1007/s10545-010-9132-4. Epub 2010 Jun 16. J Inherit Metab Dis. 2010. PMID: 20556518

10

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. 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.

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