Abidi FE - Search Results

1

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.

Ramser J, Abidi FE, Burckle CA, Lenski C, Toriello H, Wen G, Lubs HA, Engert S, Stevenson RE, Meindl A, Schwartz CE, Nguyen G. Ramser J, et al. Among authors: abidi fe. Hum Mol Genet. 2005 Apr 15;14(8):1019-27. doi: 10.1093/hmg/ddi094. Epub 2005 Mar 3. Hum Mol Genet. 2005. PMID: 15746149

2

Family MRX9 revisited: further evidence for locus heterogeneity in MRX.

Winnepenninckx B, Errijgers V, Reyniers E, De Deyn PP, Abidi FE, Schwartz CE, Kooy RF. Winnepenninckx B, et al. Among authors: abidi fe. Am J Med Genet. 2002 Sep 15;112(1):17-22. doi: 10.1002/ajmg.10663. Am J Med Genet. 2002. PMID: 12239714

3

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.

Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE. Lenski C, et al. Am J Hum Genet. 2004 Apr;74(4):777-80. doi: 10.1086/383205. Am J Hum Genet. 2004. PMID: 15024694 Free PMC article. No abstract available.

4

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.

Abidi FE, Cardoso C, Lossi AM, Lowry RB, Depetris D, Mattéi MG, Lubs HA, Stevenson RE, Fontes M, Chudley AE, Schwartz CE. Abidi FE, et al. Eur J Hum Genet. 2005 Feb;13(2):176-83. doi: 10.1038/sj.ejhg.5201303. Eur J Hum Genet. 2005. PMID: 15508018

5

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.

Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gécz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R, Kalscheuer V, Hanauer A. Hagens O, et al. Hum Genet. 2006 Jan;118(5):578-90. doi: 10.1007/s00439-005-0072-2. Epub 2005 Oct 26. Hum Genet. 2006. PMID: 16249884

6

Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.

Kesler SR, Simensen RJ, Voeller K, Abidi F, Stevenson RE, Schwartz CE, Reiss AL. Kesler SR, et al. Neurogenetics. 2007 Apr;8(2):143-7. doi: 10.1007/s10048-007-0080-6. Epub 2007 Feb 22. Neurogenetics. 2007. PMID: 17318637 Free PMC article.

7

X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation.

Zhang L, Jie C, Obie C, Abidi F, Schwartz CE, Stevenson RE, Valle D, Wang T. Zhang L, et al. Genome Res. 2007 May;17(5):641-8. doi: 10.1101/gr.5336307. Epub 2007 Apr 6. Genome Res. 2007. PMID: 17416750 Free PMC article.

8

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, Hackett A, Marynen P, Turner G, Gécz J. Froyen G, et al. Am J Hum Genet. 2008 Feb;82(2):432-43. doi: 10.1016/j.ajhg.2007.11.002. Epub 2008 Jan 24. Am J Hum Genet. 2008. PMID: 18252223 Free PMC article.

9

Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.

Abidi F, Holloway L, Moore CA, Weaver DD, Simensen RJ, Stevenson RE, Rogers RC, Schwartz CE. Abidi F, et al. Hum Genet. 2009 Apr;125(3):344. Hum Genet. 2009. PMID: 19320021 No abstract available.

10

Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.

Abidi F, Holloway L, Moore CA, Weaver DD, Simensen RJ, Stevenson RE, Rogers RC, Schwartz CE. Abidi F, et al. Hum Genet. 2009 Apr;125(3):345. Hum Genet. 2009. PMID: 19320023 No abstract available.

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