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Items: 1 to 20 of 463

1.

Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers.

Chocholska S, Rossier E, Barbi G, Kehrer-Sawatzki H.

Am J Med Genet A. 2006 Mar 15;140(6):604-10.

PMID:
16470742
2.

Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect.

Macarov M, Zeigler M, Newman JP, Strich D, Sury V, Tennenbaum A, Meiner V.

J Intellect Disabil Res. 2007 May;51(Pt 5):329-33.

PMID:
17391250
3.

The Xp contiguous deletion syndrome and autism.

Shinawi M, Patel A, Panichkul P, Zascavage R, Peters SU, Scaglia F.

Am J Med Genet A. 2009 Jun;149A(6):1138-48. doi: 10.1002/ajmg.a.32833.

PMID:
19441126
4.

Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.

Mochel F, Missirian C, Reynaud R, Moncla A.

Eur J Med Genet. 2008 Jan-Feb;51(1):68-73. doi: 10.1016/j.ejmg.2007.11.002. Epub 2007 Nov 22.

PMID:
18194880
5.

An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.

Doherty MJ, Glass IA, Bennett CL, Cotter PD, Watson NF, Mitchell AL, Bird TD, Farrell DF.

Epilepsia. 2003 Dec;44(12):1529-35.

6.

Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.

Ben Khelifa H, Soyah N, Ben-Abdallah-Bouhjar I, Gritly R, Sanlaville D, Elghezal H, Saad A, Mougou-Zerelli S.

Gene. 2013 Sep 25;527(2):578-83. doi: 10.1016/j.gene.2013.06.018. Epub 2013 Jun 18.

PMID:
23791652
7.
8.

A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD.

Boycott KM, Parslow MI, Ross JL, Miller IP, Bech-Hansen NT, MacLeod PM.

Am J Med Genet A. 2003 Oct 1;122A(2):139-47.

PMID:
12955766
9.

FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism.

Vazna A, Musova Z, Vlckova M, Novotna D, Dvorakova L, Hrdlicka M, Havlovicova M, Sedlacek Z.

Am J Med Genet A. 2010 May;152A(5):1273-7. doi: 10.1002/ajmg.a.33352.

PMID:
20425835
11.

Autism-associated familial microdeletion of Xp11.22.

Qiao Y, Liu X, Harvard C, Hildebrand MJ, Rajcan-Separovic E, Holden JJ, Lewis ME.

Clin Genet. 2008 Aug;74(2):134-44. doi: 10.1111/j.1399-0004.2008.01028.x. Epub 2008 May 21.

PMID:
18498374
12.

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation.

Fukami M, Kirsch S, Schiller S, Richter A, Benes V, Franco B, Muroya K, Rao E, Merker S, Niesler B, Ballabio A, Ansorge W, Ogata T, Rappold GA.

Am J Hum Genet. 2000 Sep;67(3):563-73. Epub 2000 Jul 20.

13.

Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.

van Steensel MA, Vreeburg M, Engelen J, Ghesquiere S, Stegmann AP, Herbergs J, van Lent J, Smeets B, Vles JH.

Am J Med Genet A. 2008 Nov 15;146A(22):2944-9. doi: 10.1002/ajmg.a.32473.

PMID:
18925676
14.

Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.

Wolff DJ, Gustashaw KM, Zurcher V, Ko L, White W, Weiss L, Van Dyke DL, Schwartz S, Willard HF.

Hum Genet. 1997 Aug;100(2):256-61.

PMID:
9254860
15.

Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH.

Bukvic N, Carri VD, Di Cosola ML, Pustorino G, Cesarano C, Chetta M, Santacroce R, Sarno M, Sessa F, Longo V, Novelli A, Gentile M, Margaglione M.

Am J Med Genet A. 2010 Jul;152A(7):1730-4. doi: 10.1002/ajmg.a.33437.

PMID:
20578256
16.

Phenotype in X chromosome rearrangements: pitfalls of X inactivation study.

Schluth C, Cossée M, Girard-Lemaire F, Carelle N, Dollfus H, Jeandidier E, Flori E.

Pathol Biol (Paris). 2007 Feb;55(1):29-36. Epub 2006 May 11.

PMID:
16690229
17.

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum.

Manning MA, Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, Hudgins L, Enns GM, Hoyme HE.

Pediatrics. 2004 Aug;114(2):451-7.

PMID:
15286229
18.

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.

Van Esch H, Hollanders K, Badisco L, Melotte C, Van Hummelen P, Vermeesch JR, Devriendt K, Fryns JP, Marynen P, Froyen G.

Hum Mol Genet. 2005 Jul 1;14(13):1795-803. Epub 2005 May 11.

PMID:
15888481
19.

A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males.

Melichar VO, Guth S, Hellebrand H, Meindl A, von der Hardt K, Kraus C, Trautmann U, Rascher W, Rauch A, Zenker M.

Am J Med Genet A. 2007 Jan 15;143A(2):135-41.

PMID:
17163525
20.

Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder.

Lukusa T, Vermeesch JR, Holvoet M, Fryns JP, Devriendt K.

Genet Couns. 2004;15(3):293-301.

PMID:
15517821

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