Jurkiewicz D - Search Results

1

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.

Jurkiewicz D, Kugaudo M, Skórka A, Śmigiel R, Smyk M, Ciara E, Chrzanowska K, Krajewska-Walasek M. Jurkiewicz D, et al. Am J Med Genet A. 2017 Jan;173(1):72-78. doi: 10.1002/ajmg.a.37964. Epub 2016 Sep 9. Am J Med Genet A. 2017. PMID: 27612309

2

X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation.

Popowska E, Pronicka E, Sułek A, Jurkiewicz D, Rowińska E, Sykut-Cegielska J, Rump Z, Arasimowicz E, Krajewska-Walasek M. Popowska E, et al. Among authors: jurkiewicz d. J Appl Genet. 2001;42(1):73-88. J Appl Genet. 2001. PMID: 14564066

3

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene.

Popowska E, Pronicka E, Sułek A, Jurkiewicz D, Rowe P, Rowinska E, Krajewska-Walasek M. Popowska E, et al. Among authors: jurkiewicz d. J Appl Genet. 2000;41(4):293-302. J Appl Genet. 2000. PMID: 14564077

4

Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

Jurkiewicz D, Popowska E, Gläser C, Hansmann I, Krajewska-Walasek M. Jurkiewicz D, et al. Hum Mutat. 2005 Mar;25(3):321. doi: 10.1002/humu.9313. Hum Mutat. 2005. PMID: 15712272

5

A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient.

Gutkowska A, Tylki-Szymańska A, Popowska E, Bielińska B, Jurkiewicz D, Krajewska-Walasek M. Gutkowska A, et al. Among authors: jurkiewicz d. Eur J Med Genet. 2005 Apr-Jun;48(2):207-9. doi: 10.1016/j.ejmg.2004.12.003. Eur J Med Genet. 2005. PMID: 16053914 No abstract available.

6

SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations.

Ciara E, Popowska E, Piekutowska-Abramczuk D, Jurkiewicz D, Borucka-Mankiewicz M, Kowalski P, Goryluk-Kozakiewicz B, Nowaczyk MJ, Krajewska-Walasek M. Ciara E, et al. Among authors: jurkiewicz d. Eur J Med Genet. 2006 Nov-Dec;49(6):499-504. doi: 10.1016/j.ejmg.2006.01.006. Epub 2006 Feb 9. Eur J Med Genet. 2006. PMID: 16497572

7

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

Jurkiewicz D, Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Kugaudo M, Gajdulewicz M, Chrzanowska K, Popowska E, Krajewska-Walasek M. Jurkiewicz D, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):268-73. doi: 10.1016/j.ejmg.2010.07.006. Epub 2010 Jul 15. Eur J Med Genet. 2010. PMID: 20637903

8

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: jurkiewicz d. 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

9

RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family.

Maystadt I, Destree A, Benoit V, Aeby A, Lederer D, Moortgat S, Jurkiewicz D, Krajewska-Walasek M, Hanauer A, Thomas GM. Maystadt I, et al. Among authors: jurkiewicz d. Clin Genet. 2014 Jan;85(1):96-9. doi: 10.1111/cge.12122. Epub 2013 Mar 17. Clin Genet. 2014. PMID: 23495752 No abstract available.

10

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.

Piekutowska-Abramczuk D, Pronicki M, Strawa K, Karkucińska-Więckowska A, Szymańska-Dębińska T, Fidziańska A, Więckowski MR, Jurkiewicz D, Ciara E, Jankowska I, Sykut-Cegielska J, Krajewska-Walasek M, Płoski R, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: jurkiewicz d. Clin Genet. 2014 Jun;85(6):573-7. doi: 10.1111/cge.12228. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23829229

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