Gal A - Search Results

1

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.

Kutsche K, Yntema H, Brandt A, Jantke I, Nothwang HG, Orth U, Boavida MG, David D, Chelly J, Fryns JP, Moraine C, Ropers HH, Hamel BC, van Bokhoven H, Gal A. Kutsche K, et al. Among authors: gal a. Nat Genet. 2000 Oct;26(2):247-50. doi: 10.1038/80002. Nat Genet. 2000. PMID: 11017088

2

Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling.

Rosenberger G, Jantke I, Gal A, Kutsche K. Rosenberger G, et al. Among authors: gal a. Hum Mol Genet. 2003 Jan 15;12(2):155-67. doi: 10.1093/hmg/ddg019. Hum Mol Genet. 2003. PMID: 12499396

3

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.

Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T. Gal A, et al. Nat Genet. 1994 May;7(1):64-8. doi: 10.1038/ng0594-64. Nat Genet. 1994. PMID: 8075643

4

Jumping translocation in a phenotypically normal female.

von Ballestrem CL, Boavida MG, Zuther C, Carreiro MH, David D, Gal A, Schwinger E. von Ballestrem CL, et al. Among authors: gal a. Clin Genet. 1996 Mar;49(3):156-9. doi: 10.1111/j.1399-0004.1996.tb03276.x. Clin Genet. 1996. PMID: 8737982

5

The mouse Arhgef6 gene: cDNA sequence, expression analysis, and chromosome assignment.

Kutsche K, Gal A. Kutsche K, et al. Among authors: gal a. Cytogenet Cell Genet. 2001;95(3-4):196-201. doi: 10.1159/000059346. Cytogenet Cell Genet. 2001. PMID: 12063400

6

AlphaPIX associates with calpain 4, the small subunit of calpain, and has a dual role in integrin-mediated cell spreading.

Rosenberger G, Gal A, Kutsche K. Rosenberger G, et al. Among authors: gal a. J Biol Chem. 2005 Feb 25;280(8):6879-89. doi: 10.1074/jbc.M412119200. Epub 2004 Dec 20. J Biol Chem. 2005. PMID: 15611136 Free article.

7

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K. Wimplinger I, et al. Among authors: gal a. Am J Hum Genet. 2006 Nov;79(5):878-89. doi: 10.1086/508474. Epub 2006 Sep 6. Am J Hum Genet. 2006. PMID: 17033964 Free PMC article.

8

X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.

Orth U, Fairweather N, Exler MC, Schwinger E, Gal A. Orth U, et al. Among authors: gal a. Hum Mol Genet. 1994 Sep;3(9):1699-700. doi: 10.1093/hmg/3.9.1699. Hum Mol Genet. 1994. PMID: 7833935 No abstract available.

9

New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3.

Wittwer B, Kircheisen R, Leutelt J, Orth U, Gal A. Wittwer B, et al. Among authors: gal a. Am J Med Genet. 1996 Jul 12;64(1):42-9. doi: 10.1002/(SICI)1096-8628(19960712)64:1<42::AID-AJMG6>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8826447

10

Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.

Gu SM, Orth U, Veske A, Enders H, Klunder K, Schlosser M, Engel W, Schwinger E, Gal A. Gu SM, et al. Among authors: gal a. J Med Genet. 1996 Feb;33(2):103-6. doi: 10.1136/jmg.33.2.103. J Med Genet. 1996. PMID: 8929944 Free PMC article.

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