Popowska E - Search Results

1

Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).

Popowska E, Rathmann M, Tylki-Szymanska A, Bunge S, Steglich C, Schwinger E, Gal A. Popowska E, et al. Hum Mutat. 1995;5(1):97-100. doi: 10.1002/humu.1380050114. Hum Mutat. 1995. PMID: 7728156 No abstract available.

2

Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II.

Bunge S, Rathmann M, Steglich C, Bondeson ML, Tylki-Szymanska A, Popowska E, Gal A. Bunge S, et al. Among authors: popowska e. Eur J Hum Genet. 1998 Sep-Oct;6(5):492-500. doi: 10.1038/sj.ejhg.5200213. Eur J Hum Genet. 1998. PMID: 9801874

3

Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations.

Jurecka A, Popowska E, Tylki-Szymanska A, Kubalska J, Ciara E, Krumina Z, Sykut-Cegielska J, Pronicka E. Jurecka A, et al. Among authors: popowska e. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S447-51. doi: 10.1007/s10545-008-1013-8. Epub 2008 Nov 21. J Inherit Metab Dis. 2008. PMID: 19016344

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. Among authors: popowska e. 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: popowska e. 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

Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients.

Popowska E, Ciara E, Rokicki D, Pronicka E. Popowska E, et al. J Inherit Metab Dis. 1999 Feb;22(1):92-3. doi: 10.1023/a:1005476021549. J Inherit Metab Dis. 1999. PMID: 10070627 No abstract available.

7

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

Rowe PS, Oudet CL, Francis F, Sinding C, Pannetier S, Econs MJ, Strom TM, Meitinger T, Garabedian M, David A, Macher MA, Questiaux E, Popowska E, Pronicka E, Read AP, Mokrzycki A, Glorieux FH, Drezner MK, Hanauer A, Lehrach H, Goulding JN, O'Riordan JL. Rowe PS, et al. Among authors: popowska e. Hum Mol Genet. 1997 Apr;6(4):539-49. doi: 10.1093/hmg/6.4.539. Hum Mol Genet. 1997. PMID: 9097956

8

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.

Pronicki M, Kowalski P, Piekutowska-Abramczuk D, Taybert J, Karkucinska-Wieckowska A, Szymanska-Debinska T, Karczmarewicz E, Pajdowska M, Migdal M, Milewska-Bobula B, Sykut-Cegielska J, Popowska E. Pronicki M, et al. Among authors: popowska e. Eur J Paediatr Neurol. 2010 May;14(3):253-60. doi: 10.1016/j.ejpn.2009.09.008. Epub 2009 Oct 29. Eur J Paediatr Neurol. 2010. PMID: 19879173

9

Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease.

Wasniewska M, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Zablocki K, Popowska E, Pronicka E, Duszyński J. Wasniewska M, et al. Among authors: popowska e. Biochem Biophys Res Commun. 2001 May 11;283(3):687-93. doi: 10.1006/bbrc.2001.4834. Biochem Biophys Res Commun. 2001. PMID: 11341780

10

Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A>G in exon 8 (p.Met268Val).

Jamroz E, Paprocka J, Sokół M, Popowska E, Ciara E. Jamroz E, et al. Among authors: popowska e. Neurol Neurochir Pol. 2013 May-Jun;47(3):283-9. doi: 10.5114/ninp.2013.35488. Neurol Neurochir Pol. 2013. PMID: 23821427

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