Ciara E - Search Results

1

Clinical heterogeneity of polish patients with KAT6B-related disorder.

Klaniewska M, Bolanowska-Tyszko A, Latos-Bielenska A, Jezela-Stanek A, Szczaluba K, Krajewska-Walasek M, Ciara E, Pelc M, Jurkiewicz D, Stawinski P, Zubkiewicz-Kucharska A, Rydzanicz M, Ploski R, Smigiel R. Klaniewska M, et al. Among authors: ciara e. Mol Genet Genomic Med. 2023 Dec;11(12):e2265. doi: 10.1002/mgg3.2265. Epub 2023 Sep 1. Mol Genet Genomic Med. 2023. PMID: 37658610 Free PMC article.

2

[Hyperammonaemia type II as one of the congenital urea cycle defects].

Ciara E. Ciara E. Med Wieku Rozwoj. 1999 Jan-Mar;3(1):83-95. Med Wieku Rozwoj. 1999. PMID: 10910641 Review. Polish.

3

Xp21.2 contiguous gene syndrome due to deletion involving glycerol kinase and Duchenne muscular dystrophy loci.

Jamroz E, Paprocka J, Popowska E, Pytel J, Ciara E, Adamowicz M. Jamroz E, et al. Among authors: ciara e. Neurol India. 2010 Jul-Aug;58(4):670-1. doi: 10.4103/0028-3886.68690. Neurol India. 2010. PMID: 20739824 Free article. No abstract available.

4

[Citrin deficiency – pathogenesis, clinical and biochemical manifestation, diagnostics, treatment].

Lipiński P, Ciara E, Ehmke Vel Emczyńska-Seliga E, Jankowska I. Lipiński P, et al. Among authors: ciara e. Postepy Biochem. 2021 Apr 29;67(2):157-162. doi: 10.18388/pb.2021_381. Print 2021 Jun 30. Postepy Biochem. 2021. PMID: 34378890 Free article. Polish.

5

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.

Hellerud C, Adamowicz M, Jurkiewicz D, Taybert J, Kubalska J, Ciara E, Popowska E, Ellis JR, Lindstedt S, Pronicka E. Hellerud C, et al. Among authors: ciara e. Mol Genet Metab. 2003 Jul;79(3):149-59. doi: 10.1016/s1096-7192(03)00094-5. Mol Genet Metab. 2003. PMID: 12855219

6

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. Clin Genet. 2004 Dec;66(6):517-24. doi: 10.1111/j.1399-0004.2004.00350.x. Clin Genet. 2004. PMID: 15521979

7

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: ciara e. Clin Genet. 2006 Jan;69(1):77-85. doi: 10.1111/j.1399-0004.2006.00551.x. Clin Genet. 2006. PMID: 16451140

8

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. 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

9

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: ciara 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

10

The frequency of NBN molecular variants in pediatric astrocytic tumors.

Piekutowska-Abramczuk D, Ciara E, Popowska E, Grajkowska W, Dembowska-Bagińska B, Kowalewska E, Czajńska A, Perek-Polnik M, Roszkowski M, Syczewska M, Krajewska-Walasek M, Perek D, Chrzanowska KH. Piekutowska-Abramczuk D, et al. Among authors: ciara e. J Neurooncol. 2010 Jan;96(2):161-8. doi: 10.1007/s11060-009-9958-5. Epub 2009 Jul 22. J Neurooncol. 2010. PMID: 19629396

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