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Items: 1 to 20 of 218

1.

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
2.

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
3.

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.

PMID:
18194880
4.

Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation.

Lesca G, Sinilnikova O, Theuil G, Blanc J, Edery P, Till M.

Clin Genet. 2005 Apr;67(4):367-8. No abstract available.

PMID:
15733277
5.
6.

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.

PMID:
18498374
7.

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.

PMID:
15888481
8.

Familial deletion within NLGN4 associated with autism and Tourette syndrome.

Lawson-Yuen A, Saldivar JS, Sommer S, Picker J.

Eur J Hum Genet. 2008 May;16(5):614-8. doi: 10.1038/sj.ejhg.5202006.

9.

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP, Raynaud M, Ronce N, Lemonnier E, Calvas P, Laudier B, Chelly J, Fryns JP, Ropers HH, Hamel BC, Andres C, Barthélémy C, Moraine C, Briault S.

Am J Hum Genet. 2004 Mar;74(3):552-7.

10.

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

Martínez-Garay I, Tomás M, Oltra S, Ramser J, Moltó MD, Prieto F, Meindl A, Kutsche K, Martínez F.

Eur J Hum Genet. 2007 Jan;15(1):29-34.

11.

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
12.

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.

PMID:
23791652
13.

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.

14.

Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands.

Vincent JB, Kolozsvari D, Roberts WS, Bolton PF, Gurling HM, Scherer SW.

Am J Med Genet B Neuropsychiatr Genet. 2004 Aug 15;129B(1):82-4.

PMID:
15274046
15.

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

Türkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D.

Eur J Hum Genet. 2003 Nov;11(11):858-65.

16.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
17.

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.

18.

Analysis of four neuroligin genes as candidates for autism.

Ylisaukko-oja T, Rehnström K, Auranen M, Vanhala R, Alen R, Kempas E, Ellonen P, Turunen JA, Makkonen I, Riikonen R, Nieminen-von Wendt T, von Wendt L, Peltonen L, Järvelä I.

Eur J Hum Genet. 2005 Dec;13(12):1285-92.

19.

Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation.

Weissörtel R, Strom TM, Dörr HG, Rauch A, Meitinger T.

Clin Genet. 1998 Jul;54(1):45-51.

PMID:
9727739
20.

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

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