Popowska E - Search Results

1

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.

Jezela-Stanek A, Ciara E, Malunowicz EM, Korniszewski L, Piekutowska-Abramczuk D, Popowska E, Krajewska-Walasek M. Jezela-Stanek A, et al. Among authors: popowska e. Eur J Med Genet. 2008 Mar-Apr;51(2):124-40. doi: 10.1016/j.ejmg.2007.11.004. Epub 2007 Dec 8. Eur J Med Genet. 2008. PMID: 18249054

2

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

3

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. Among authors: popowska e. 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

4

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

Ciara E, Nowaczyk MJ, Witsch-Baumgartner M, Malunowicz E, Popowska E, Jezela-Stanek A, Piotrowicz M, Waye JS, Utermann G, Krajewska-Walasek M. Ciara E, et al. Among authors: popowska e. Clin Genet. 2004 Dec;66(6):517-24. doi: 10.1111/j.1399-0004.2004.00350.x. Clin Genet. 2004. PMID: 15521979

5

Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.

Jezela-Stanek A, Małunowicz EM, Ciara E, Popowska E, Goryluk-Kozakiewicz B, Spodar K, Czerwiecka M, Jezuita J, Nowaczyk MJ, Krajewska-Walasek M. Jezela-Stanek A, et al. Among authors: popowska e. Clin Genet. 2006 Jan;69(1):77-85. doi: 10.1111/j.1399-0004.2006.00551.x. Clin Genet. 2006. PMID: 16451140

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: popowska e. 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

SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome.

Piekutowska-Abramczuk D, Popowska E, Pronicka E, Karczmarewicz E, Pronicki M, Kmieć T, Krajewska-Walasek M. Piekutowska-Abramczuk D, et al. Among authors: popowska e. J Appl Genet. 2001;42(1):103-8. J Appl Genet. 2001. PMID: 14564068

8

SURF1 missense mutations promote a mild Leigh phenotype.

Piekutowska-Abramczuk D, Magner M, Popowska E, Pronicki M, Karczmarewicz E, Sykut-Cegielska J, Kmiec T, Jurkiewicz E, Szymanska-Debinska T, Bielecka L, Krajewska-Walasek M, Vesela K, Zeman J, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: popowska e. Clin Genet. 2009 Aug;76(2):195-204. doi: 10.1111/j.1399-0004.2009.01195.x. Clin Genet. 2009. PMID: 19780766

9

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.

Piekutowska-Abramczuk D, Popowska E, Pronicki M, Karczmarewicz E, Tylek-Lemanska D, Sykut-Cegielska J, Szymanska-Dembinska T, Bielecka L, Krajewska-Walasek M, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: popowska e. Eur J Paediatr Neurol. 2009 Mar;13(2):146-53. doi: 10.1016/j.ejpn.2008.03.009. Epub 2008 Jun 26. Eur J Paediatr Neurol. 2009. PMID: 18583168

10

A case of Prader-Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13).

Krajewska Walasek M, Gutkowska A, Bielińska B, Goryluk-Kozakiewicz B, Popowska E. Krajewska Walasek M, et al. Among authors: popowska e. Clin Genet. 1998 Jul;54(1):60-4. doi: 10.1111/j.1399-0004.1998.tb03695.x. Clin Genet. 1998. PMID: 9727742

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