Reis A - Search Results

1

Variants in ASB10 are associated with open-angle glaucoma.

Pasutto F, Keller KE, Weisschuh N, Sticht H, Samples JR, Yang YF, Zenkel M, Schlötzer-Schrehardt U, Mardin CY, Frezzotti P, Edmunds B, Kramer PL, Gramer E, Reis A, Acott TS, Wirtz MK. Pasutto F, et al. Among authors: reis a. Hum Mol Genet. 2012 Mar 15;21(6):1336-49. doi: 10.1093/hmg/ddr572. Epub 2011 Dec 8. Hum Mol Genet. 2012. PMID: 22156576 Free PMC article.

2

Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster.

Hennies HC, Küster W, Mischke D, Reis A. Hennies HC, et al. Among authors: reis a. Hum Mol Genet. 1995 Jun;4(6):1015-20. doi: 10.1093/hmg/4.6.1015. Hum Mol Genet. 1995. PMID: 7544663

3

Three dinucleotide microsatellite polymorphisms on human chromosome 13.

Hennies HC, Reis A. Hennies HC, et al. Among authors: reis a. Hum Mol Genet. 1993 Jan;2(1):87. doi: 10.1093/hmg/2.1.87. Hum Mol Genet. 1993. PMID: 8490630 No abstract available.

4

Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family.

Bürger J, Metzke H, Paternotte C, Schilling F, Hazan J, Reis A. Bürger J, et al. Among authors: reis a. Hum Genet. 1996 Sep;98(3):371-5. doi: 10.1007/s004390050223. Hum Genet. 1996. PMID: 8707310

5

Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping.

Laass MW, Hennies HC, Preis S, Stevens HP, Jung M, Leigh IM, Wienker TF, Reis A. Laass MW, et al. Among authors: reis a. Hum Genet. 1997 Dec;101(3):376-82. doi: 10.1007/s004390050645. Hum Genet. 1997. PMID: 9439671

6

Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.

Hennies HC, Küster W, Wiebe V, Krebsová A, Reis A. Hennies HC, et al. Among authors: reis a. Am J Hum Genet. 1998 May;62(5):1052-61. doi: 10.1086/301818. Am J Hum Genet. 1998. PMID: 9545389 Free PMC article.

7

Localization of a gene for syndactyly type 1 to chromosome 2q34-q36.

Bosse K, Betz RC, Lee YA, Wienker TF, Reis A, Kleen H, Propping P, Cichon S, Nöthen MM. Bosse K, et al. Among authors: reis a. Am J Hum Genet. 2000 Aug;67(2):492-7. doi: 10.1086/303028. Epub 2000 Jun 30. Am J Hum Genet. 2000. PMID: 10877983 Free PMC article.

8

Hereditary spastic paraplegia caused by mutations in the SPG4 gene.

Bürger J, Fonknechten N, Hoeltzenbein M, Neumann L, Bratanoff E, Hazan J, Reis A. Bürger J, et al. Among authors: reis a. Eur J Hum Genet. 2000 Oct;8(10):771-6. doi: 10.1038/sj.ejhg.5200528. Eur J Hum Genet. 2000. PMID: 11039577

9

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

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

3,302 results

Search Page