Zweier C - Search Results

1

DLG4-related synaptopathy: a new rare brain disorder.

Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Among authors: zweier c. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.

2

"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.

Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, Rott HD, Rauch A. Zweier C, et al. Am J Med Genet. 2002 Mar 15;108(3):177-81. Am J Med Genet. 2002. PMID: 11891681

3

Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease.

Horn D, Weschke B, Zweier C, Rauch A. Horn D, et al. Among authors: zweier c. Am J Med Genet A. 2004 Jan 1;124A(1):102-4. doi: 10.1002/ajmg.a.20298. Am J Med Genet A. 2004. PMID: 14679597 No abstract available.

4

9 Mb deletion including chromosome band 3q24 associated with unsuspicious facial gestalt, persistent ductus omphaloentericus, mild mental retardation and tic.

Zweier C, Guth S, Schulte-Mattler U, Rauch A, Trautmann U. Zweier C, et al. Eur J Med Genet. 2005 Jul-Sep;48(3):360-2. doi: 10.1016/j.ejmg.2005.04.016. Eur J Med Genet. 2005. PMID: 16179233

5

Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.

Zweier C, Horn D, Kraus C, Rauch A. Zweier C, et al. Am J Med Genet A. 2006 Apr 15;140(8):869-72. doi: 10.1002/ajmg.a.31196. Am J Med Genet A. 2006. PMID: 16532472 Review.

6

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V. Heinritz W, et al. Among authors: zweier c. Am J Med Genet A. 2006 Jun 1;140(11):1223-7. doi: 10.1002/ajmg.a.31267. Am J Med Genet A. 2006. PMID: 16688751

7

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, Zenker M, Hüffmeier U, Thiel C, Rüschendorf F, Nürnberg P, Reis A, Trautmann U. Rauch A, et al. Among authors: zweier c. Am J Med Genet A. 2006 Oct 1;140(19):2063-74. doi: 10.1002/ajmg.a.31416. Am J Med Genet A. 2006. PMID: 16917849

8

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.

Zweier C, Sticht H, Aydin-Yaylagül I, Campbell CE, Rauch A. Zweier C, et al. Am J Hum Genet. 2007 Mar;80(3):510-7. doi: 10.1086/511993. Epub 2007 Jan 18. Am J Hum Genet. 2007. PMID: 17273972 Free PMC article.

9

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Gohring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RC, Orrico A, Cohen M, Dreweke A, Reis A, Nurnberg P, Rauch A. Zweier C, et al. Am J Hum Genet. 2007 May;80(5):994-1001. doi: 10.1086/515583. Epub 2007 Mar 23. Am J Hum Genet. 2007. PMID: 17436255 Free PMC article.

10

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.

Hoyer J, Dreweke A, Becker C, Göhring I, Thiel CT, Peippo MM, Rauch R, Hofbeck M, Trautmann U, Zweier C, Zenker M, Hüffmeier U, Kraus C, Ekici AB, Rüschendorf F, Nürnberg P, Reis A, Rauch A. Hoyer J, et al. Among authors: zweier c. J Med Genet. 2007 Oct;44(10):629-36. doi: 10.1136/jmg.2007.050914. Epub 2007 Jun 29. J Med Genet. 2007. PMID: 17601928 Free PMC article.

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