Reis A - Search Results

1

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.

Popp B, Støve SI, Endele S, Myklebust LM, Hoyer J, Sticht H, Azzarello-Burri S, Rauch A, Arnesen T, Reis A. Popp B, et al. Among authors: reis a. Eur J Hum Genet. 2015 May;23(5):602-9. doi: 10.1038/ejhg.2014.150. Epub 2014 Aug 6. Eur J Hum Genet. 2015. PMID: 25099252 Free PMC article.

2

Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.

Hennies HC, Zehender D, Kunze J, Küster W, Reis A. Hennies HC, et al. Among authors: reis a. Hum Genet. 1994 Jun;93(6):649-54. doi: 10.1007/BF00201564. Hum Genet. 1994. PMID: 7516304

3

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

4

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.

5

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.

Weber S, Hoffmann K, Jeck N, Saar K, Boeswald M, Kuwertz-Broeking E, Meij II, Knoers NV, Cochat P, Suláková T, Bonzel KE, Soergel M, Manz F, Schaerer K, Seyberth HW, Reis A, Konrad M. Weber S, et al. Among authors: reis a. Eur J Hum Genet. 2000 Jun;8(6):414-22. doi: 10.1038/sj.ejhg.5200475. Eur J Hum Genet. 2000. PMID: 10878661

6

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

7

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

8

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

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. 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

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.

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