Reis A - Search Results

1

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.

2

Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.

Bürger J, Buiting K, Dittrich B, Gross S, Lich C, Sperling K, Horsthemke B, Reis A. Bürger J, et al. Among authors: reis a. Am J Hum Genet. 1997 Jul;61(1):88-93. doi: 10.1086/513900. Am J Hum Genet. 1997. PMID: 9245988 Free PMC article.

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

A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.

Betz RC, Lee YA, Bygum A, Brandrup F, Bernal AI, Toribio J, Alvarez JI, Kukuk GM, Ibsen HH, Rasmussen HB, Wienker TF, Reis A, Propping P, Kruse R, Cichon S, Nöthen MM. Betz RC, et al. Among authors: reis a. Am J Hum Genet. 2000 Jun;66(6):1979-83. doi: 10.1086/302934. Epub 2000 May 2. Am J Hum Genet. 2000. PMID: 10793007 Free PMC article.

6

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.

7

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

8

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.

9

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

10

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

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