Reis A - Search Results

1

Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.

Krumbiegel M, Pasutto F, Schlötzer-Schrehardt U, Uebe S, Zenkel M, Mardin CY, Weisschuh N, Paoli D, Gramer E, Becker C, Ekici AB, Weber BH, Nürnberg P, Kruse FE, Reis A. Krumbiegel M, et al. Among authors: reis a. Eur J Hum Genet. 2011 Feb;19(2):186-93. doi: 10.1038/ejhg.2010.144. Epub 2010 Sep 1. Eur J Hum Genet. 2011. PMID: 20808326 Free PMC article.

2

Trinucleotide repeat polymorphism at the PKLR locus.

Lenzner C, Jacobasch G, Reis A, Thiele B, Nürnberg P. Lenzner C, et al. Among authors: reis a. Hum Mol Genet. 1994 Mar;3(3):523. doi: 10.1093/hmg/3.3.523-a. Hum Mol Genet. 1994. PMID: 8012373 No abstract available.

3

The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene.

Nürnberg P, Tinschert S, Mrug M, Hampe J, Müller CR, Fuhrmann E, Braun HS, Reis A. Nürnberg P, et al. Among authors: reis a. Am J Hum Genet. 1997 Oct;61(4):918-23. doi: 10.1086/514880. Am J Hum Genet. 1997. PMID: 9382103 Free PMC article.

4

Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.

Varon R, Seemanova E, Chrzanowska K, Hnateyko O, Piekutowska-Abramczuk D, Krajewska-Walasek M, Sykut-Cegielska J, Sperling K, Reis A. Varon R, et al. Among authors: reis a. Eur J Hum Genet. 2000 Nov;8(11):900-2. doi: 10.1038/sj.ejhg.5200554. Eur J Hum Genet. 2000. PMID: 11093281

5

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

6

Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.

Michels-Rautenstrauss K, Mardin C, Wakili N, Jünemann AM, Villalobos L, Mejia C, Soley GC, Azofeifa J, Ozbey S, Naumann GO, Reis A, Rautenstrauss B. Michels-Rautenstrauss K, et al. Among authors: reis a. Hum Mutat. 2002 Dec;20(6):479-80. doi: 10.1002/humu.9092. Hum Mutat. 2002. PMID: 12442283

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: 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

8

Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p.

Gong M, Zhang H, Schulz H, Lee YA, Sun K, Bähring S, Luft FC, Nürnberg P, Reis A, Rohde K, Ganten D, Hui R, Hübner N. Gong M, et al. Among authors: reis a. Hum Mol Genet. 2003 Jun 1;12(11):1273-7. doi: 10.1093/hmg/ddg135. Hum Mol Genet. 2003. PMID: 12761042

9

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.

10

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.

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