Wierzba J - Search Results

1

High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland.

Nedoszytko B, Siemińska A, Strapagiel D, Dąbrowski S, Słomka M, Sobalska-Kwapis M, Marciniak B, Wierzba J, Skokowski J, Fijałkowski M, Nowicki R, Kalinowski L. Nedoszytko B, et al. Among authors: wierzba j. PLoS One. 2017 Nov 2;12(11):e0187365. doi: 10.1371/journal.pone.0187365. eCollection 2017. PLoS One. 2017. PMID: 29095929 Free PMC article.

2

A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes.

Matheisel A, Babinska M, Wierzba J, Wozniak A, Nedoszytko B, Balcerska A, Limon J. Matheisel A, et al. Among authors: wierzba j. Genet Couns. 2000;11(3):267-71. Genet Couns. 2000. PMID: 11043435

3

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.

Piekutowska-Abramczuk D, Olsen RK, Wierzba J, Popowska E, Jurkiewicz D, Ciara E, Ołtarzewski M, Gradowska W, Sykut-Cegielska J, Krajewska-Walasek M, Andresen BS, Gregersen N, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: wierzba j. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S373-7. doi: 10.1007/s10545-010-9190-7. Epub 2010 Sep 3. J Inherit Metab Dis. 2010. PMID: 20814823

4

[LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant].

Neuman-Łaniec M, Wierzba J, Irga N, Zaborowska-Sołtys M, Balcerska A. Neuman-Łaniec M, et al. Among authors: wierzba j. Med Wieku Rozwoj. 2002 Jul-Sep;6(3):221-6. Med Wieku Rozwoj. 2002. PMID: 12637776 Polish.

5

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

Kuzniacka A, Wierzba J, Ratajska M, Lipska BS, Koczkowska M, Malinowska M, Limon J. Kuzniacka A, et al. Among authors: wierzba j. J Appl Genet. 2013 Feb;54(1):27-33. doi: 10.1007/s13353-012-0126-9. Epub 2012 Dec 20. J Appl Genet. 2013. PMID: 23254390 Free PMC article.

6

Clinical course and cardiovascular outcomes in patients with the long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

Kwiatkowska J, Wierzba J, Karaszewska A, Kozlowski D, Sykut-Cegielska J, Stanko A. Kwiatkowska J, et al. Among authors: wierzba j. Cardiol J. 2017;24(1):101-104. doi: 10.5603/CJ.2017.0009. Cardiol J. 2017. PMID: 28245050 Free article. No abstract available.

7

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.

Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, Stankiewicz P, Lupski JR, Limon J. Ratajska M, et al. Among authors: wierzba j. Eur J Med Genet. 2010 Nov-Dec;53(6):378-82. doi: 10.1016/j.ejmg.2010.08.002. Epub 2010 Aug 18. Eur J Med Genet. 2010. PMID: 20727427

8

8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.

Lipska BS, Brzeskwiniewicz M, Wierzba J, Morzuchi L, Piotrowski A, Limon J. Lipska BS, et al. Among authors: wierzba j. Genet Couns. 2011;22(4):353-63. Genet Couns. 2011. PMID: 22303795 Review.

9

Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia.

Kobielak K, Kobielak A, Roszkiewicz J, Wierzba J, Limon J, Trzeciak WH. Kobielak K, et al. Among authors: wierzba j. Am J Med Genet. 2001 May 1;100(3):191-7. Am J Med Genet. 2001. PMID: 11343303

10

Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.

Yan J, Saifi GM, Wierzba TH, Withers M, Bien-Willner GA, Limon J, Stankiewicz P, Lupski JR, Wierzba J. Yan J, et al. Among authors: wierzba th, wierzba j. Am J Med Genet A. 2006 Jul 15;140(14):1531-41. doi: 10.1002/ajmg.a.31305. Am J Med Genet A. 2006. PMID: 16770807

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