Zweier C - Search Results

1

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.

Zweier C, Temple IK, Beemer F, Zackai E, Lerman-Sagie T, Weschke B, Anderson CE, Rauch A. Zweier C, et al. J Med Genet. 2003 Aug;40(8):601-5. doi: 10.1136/jmg.40.8.601. J Med Genet. 2003. PMID: 12920073 Free PMC article. No abstract available.

2

Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient.

Smigiel R, Szafranska A, Czyzewska M, Rauch A, Zweier Ch, Patkowski D. Smigiel R, et al. J Appl Genet. 2010;51(1):111-3. doi: 10.1007/BF03195718. J Appl Genet. 2010. PMID: 20145308 Free article.

3

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.

Garavelli L, Donadio A, Zanacca C, Banchini G, Della Giustina E, Bertani G, Albertini G, Del Rossi C, Zweier C, Rauch A, Zollino M, Neri G. Garavelli L, et al. Among authors: zweier c. Am J Med Genet A. 2003 Feb 1;116A(4):385-8. doi: 10.1002/ajmg.a.10855. Am J Med Genet A. 2003. PMID: 12522797 No abstract available.

4

Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.

Cerruti Mainardi P, Pastore G, Zweier C, Rauch A. Cerruti Mainardi P, et al. Among authors: zweier c. J Med Genet. 2004 Feb;41(2):e16. doi: 10.1136/jmg.2003.009548. J Med Genet. 2004. PMID: 14757866 Free PMC article. No abstract available.

5

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

Rauch A, Zink S, Zweier C, Thiel CT, Koch A, Rauch R, Lascorz J, Hüffmeier U, Weyand M, Singer H, Hofbeck M. Rauch A, et al. Among authors: zweier c. J Med Genet. 2005 Nov;42(11):871-6. doi: 10.1136/jmg.2004.030619. Epub 2005 Apr 14. J Med Genet. 2005. PMID: 15831592 Free PMC article.

6

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

Zweier C, Sticht H, Bijlsma EK, Clayton-Smith J, Boonen SE, Fryer A, Greally MT, Hoffmann L, den Hollander NS, Jongmans M, Kant SG, King MD, Lynch SA, McKee S, Midro AT, Park SM, Ricotti V, Tarantino E, Wessels M, Peippo M, Rauch A. Zweier C, et al. J Med Genet. 2008 Nov;45(11):738-44. doi: 10.1136/jmg.2008.060129. Epub 2008 Aug 26. J Med Genet. 2008. PMID: 18728071

7

Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review.

Garavelli L, Cerruti-Mainardi P, Virdis R, Pedori S, Pastore G, Godi M, Provera S, Rauch A, Zweier C, Zollino M, Banchini G, Longo N, Mowat D, Neri G, Bernasconi S. Garavelli L, et al. Among authors: zweier c. Horm Res. 2005;63(4):187-92. doi: 10.1159/000085894. Epub 2005 May 20. Horm Res. 2005. PMID: 15908750

8

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.

Hoornaert KP, Dewinter C, Vereecke I, Beemer FA, Courtens W, Fryer A, Fryssira H, Lees M, Müllner-Eidenböck A, Rimoin DL, Siderius L, Superti-Furga A, Temple K, Willems PJ, Zankl A, Zweier C, De Paepe A, Coucke P, Mortier GR. Hoornaert KP, et al. Among authors: zweier c. J Med Genet. 2006 May;43(5):406-13. doi: 10.1136/jmg.2005.035717. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155195 Free PMC article.

9

Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.

Steinbusch CV, van Roozendaal KE, Tserpelis D, Smeets EE, Kranenburg-de Koning TJ, de Waal KH, Zweier C, Rauch A, Hennekam RC, Blok MJ, Schrander-Stumpel CT. Steinbusch CV, et al. Among authors: zweier c. Clin Genet. 2013 Jan;83(1):73-7. doi: 10.1111/j.1399-0004.2012.01857.x. Epub 2012 Mar 15. Clin Genet. 2013. PMID: 22335494

10

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.

Wolff D, Endele S, Azzarello-Burri S, Hoyer J, Zweier M, Schanze I, Schmitt B, Rauch A, Reis A, Zweier C. Wolff D, et al. Among authors: zweier c, zweier m. Mol Syndromol. 2012 Apr;2(6):237-244. doi: 10.1159/000337323. Epub 2012 Mar 16. Mol Syndromol. 2012. PMID: 22822383 Free PMC article.

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