Reis A - Search Results

1

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.

Fernández-Martínez L, Letteboer S, Mardin CY, Weisschuh N, Gramer E, Weber BH, Rautenstrauss B, Ferreira PA, Kruse FE, Reis A, Roepman R, Pasutto F. Fernández-Martínez L, et al. Among authors: reis a. Eur J Hum Genet. 2011 Apr;19(4):445-51. doi: 10.1038/ejhg.2010.217. Epub 2011 Jan 12. Eur J Hum Genet. 2011. PMID: 21224891 Free PMC article.

2

Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis.

Hennies HC, Raghunath M, Wiebe V, Vogel M, Velten F, Traupe H, Reis A. Hennies HC, et al. Among authors: reis a. Hum Genet. 1998 Mar;102(3):314-8. doi: 10.1007/s004390050697. Hum Genet. 1998. PMID: 9544844

3

Localisation of a Fanconi anaemia gene to chromosome 9p.

Saar K, Schindler D, Wegner RD, Reis A, Wienker TF, Hoehn H, Joenje H, Sperling K, Digweed M. Saar K, et al. Among authors: reis a. Eur J Hum Genet. 1998 Sep-Oct;6(5):501-8. doi: 10.1038/sj.ejhg.5200241. Eur J Hum Genet. 1998. PMID: 9801875

4

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

5

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

6

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

Leal A, Morera B, Del Valle G, Heuss D, Kayser C, Berghoff M, Villegas R, Hernández E, Méndez M, Hennies HC, Neundörfer B, Barrantes R, Reis A, Rautenstrauss B. Leal A, et al. Among authors: reis a. Am J Hum Genet. 2001 Jan;68(1):269-74. doi: 10.1086/316934. Epub 2000 Dec 7. Am J Hum Genet. 2001. PMID: 11112660 Free PMC article.

7

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

8

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

Huehne K, Benes V, Thiel C, Kraus C, Kress W, Hoeltzenbein M, Ploner CJ, Kotzian J, Reis A, Rott HD, Rautenstrauss BW. Huehne K, et al. Among authors: reis a. Hum Mutat. 2003 Jan;21(1):100. doi: 10.1002/humu.9101. Hum Mutat. 2003. PMID: 12497641

9

Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin.

Soley GC, Bosse KA, Flikier D, Flikier P, Azofeifa J, Mardin CY, Reis A, Michels-Rautenstrauss KG, Rautenstrauss BW. Soley GC, et al. Among authors: reis a. J Glaucoma. 2003 Feb;12(1):27-30. doi: 10.1097/00061198-200302000-00005. J Glaucoma. 2003. PMID: 12567107

10

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

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