Reis A - Search Results

1

The clinical significance of small copy number variants in neurodevelopmental disorders.

Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, Cobilanschi J, Sticht H, Baldinger R, Reissmann R, Sudholt I, Thiel CT, Ekici AB, Reis A, Bijlsma EK, Andrieux J, Dieux A, FitzPatrick D, Ritter S, Baumer A, Latal B, Plecko B, Jenni OG, Rauch A. Asadollahi R, et al. Among authors: reis a. J Med Genet. 2014 Oct;51(10):677-88. doi: 10.1136/jmedgenet-2014-102588. Epub 2014 Aug 8. J Med Genet. 2014. PMID: 25106414 Free PMC article.

2

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. Among authors: reis a. Am J Med Genet. 2001 Apr 1;99(4):338-42. doi: 10.1002/ajmg.1203. Am J Med Genet. 2001. PMID: 11252005

3

Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity.

Stöber G, Seelow D, Rüschendorf F, Ekici A, Beckmann H, Reis A. Stöber G, et al. Among authors: reis a. Hum Genet. 2002 Oct;111(4-5):323-30. doi: 10.1007/s00439-002-0805-4. Epub 2002 Aug 29. Hum Genet. 2002. PMID: 12384773

4

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: reis a. Eur J Hum Genet. 2003 Feb;11(2):170-8. doi: 10.1038/sj.ejhg.5200920. Eur J Hum Genet. 2003. PMID: 12634865

5

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. Among authors: reis a. 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

6

A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.

Zenker M, Rauch A, Winterpacht A, Tagariello A, Kraus C, Rupprecht T, Sticht H, Reis A. Zenker M, et al. Among authors: reis a. Am J Hum Genet. 2004 Apr;74(4):731-7. doi: 10.1086/383094. Epub 2004 Feb 25. Am J Hum Genet. 2004. PMID: 14988809 Free PMC article.

7

Genotype-phenotype correlations in Noonan syndrome.

Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kress W, Tietze HU, Doerr HG, Hofbeck M, Singer H, Reis A, Rauch A. Zenker M, et al. Among authors: reis a. J Pediatr. 2004 Mar;144(3):368-74. doi: 10.1016/j.jpeds.2003.11.032. J Pediatr. 2004. PMID: 15001945

8

Molecular karyotyping using an SNP array for genomewide genotyping.

Rauch A, Rüschendorf F, Huang J, Trautmann U, Becker C, Thiel C, Jones KW, Reis A, Nürnberg P. Rauch A, et al. Among authors: reis a. J Med Genet. 2004 Dec;41(12):916-22. doi: 10.1136/jmg.2004.022855. J Med Genet. 2004. PMID: 15591277 Free PMC article.

9

Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients.

Hüffmeier U, Steffens M, Burkhardt H, Lascorz J, Schürmeier-Horst F, Ständer M, Kelsch R, Baumann C, Küster W, Mössner R, Reich K, Wienker TF, Traupe H, Reis A. Hüffmeier U, et al. Among authors: reis a. J Med Genet. 2006 Jun;43(6):517-22. doi: 10.1136/jmg.2005.037515. Epub 2005 Dec 9. J Med Genet. 2006. PMID: 16339849 Free PMC article.

10

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.

Bergmann C, Senderek J, Anhuf D, Thiel CT, Ekici AB, Poblete-Gutierrez P, van Steensel M, Seelow D, Nürnberg G, Schild HH, Nürnberg P, Reis A, Frank J, Zerres K. Bergmann C, et al. Among authors: reis a. Am J Hum Genet. 2006 Dec;79(6):1105-9. doi: 10.1086/509789. Epub 2006 Oct 17. Am J Hum Genet. 2006. PMID: 17186469 Free PMC article.

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