Rauch A - Search Results

1

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.

Reuter MS, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, Steindl K, Gläser D, Joset P; DDD Study; Krumbiegel M, Rabe H, Schulte-Mattler U, Bauer P, Beck-Wödl S, Kohlhase J, Reis A, Zweier C. Reuter MS, et al. Among authors: rauch a. J Med Genet. 2017 Jan;54(1):64-72. doi: 10.1136/jmedgenet-2016-104094. Epub 2016 Aug 29. J Med Genet. 2017. PMID: 27572252

2

Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch.

Rauch A, Hofbeck M, Leipold G, Klinge J, Trautmann U, Kirsch M, Singer H, Pfeiffer RA. Rauch A, et al. Am J Med Genet. 1998 Jul 24;78(4):322-31. Am J Med Genet. 1998. PMID: 9714433

3

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.

Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA. Keyvani K, et al. Among authors: rauch a. Am J Med Genet. 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f. Am J Med Genet. 1998. PMID: 9714442 Review.

4

Elastin: mutational spectrum in supravalvular aortic stenosis.

Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read AP, Donnai D, Tassabehji M. Metcalfe K, et al. Among authors: rauch a. Eur J Hum Genet. 2000 Dec;8(12):955-63. doi: 10.1038/sj.ejhg.5200564. Eur J Hum Genet. 2000. PMID: 11175284

5

First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation.

Rauch A, Schellmoser S, Kraus C, Dörr HG, Trautmann U, Altherr MR, Pfeiffer RA, Reis A. Rauch A, et al. Am J Med Genet. 2001 Apr 1;99(4):338-42. doi: 10.1002/ajmg.1203. Am J Med Genet. 2001. PMID: 11252005

6

"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. Among authors: rauch a. Am J Med Genet. 2002 Mar 15;108(3):177-81. Am J Med Genet. 2002. PMID: 11891681

7

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

Thiel CT, Kraus C, Rauch A, Ekici AB, Rautenstrauss B, Reis A. Thiel CT, et al. Among authors: rauch a. Eur J Hum Genet. 2003 Feb;11(2):170-8. doi: 10.1038/sj.ejhg.5200920. Eur J Hum Genet. 2003. PMID: 12634865

8

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.

Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Mohammed SN, Newbury-Ecob R, Reardon W. Kohlhase J, et al. Among authors: rauch a. J Med Genet. 2003 Jul;40(7):473-8. doi: 10.1136/jmg.40.7.473. J Med Genet. 2003. PMID: 12843316 Free PMC article.

9

A novel 5q35.3 subtelomeric deletion syndrome.

Rauch A, Beese M, Mayatepek E, Dörr HG, Wenzel D, Reis A, Trautmann U. Rauch A, et al. Am J Med Genet A. 2003 Aug 15;121A(1):1-8. doi: 10.1002/ajmg.a.20173. Am J Med Genet A. 2003. PMID: 12900893

10

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. Among authors: rauch a. 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.

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