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Items: 1 to 20 of 134

1.

2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.

Liu X, Malenfant P, Reesor C, Lee A, Hudson ML, Harvard C, Qiao Y, Persico AM, Cohen IL, Chudley AE, Forster-Gibson C, Rajcan-Separovic E, Lewis ME, Holden JJ.

Eur J Hum Genet. 2011 Dec;19(12):1264-70. doi: 10.1038/ejhg.2011.112. Epub 2011 Jul 13.

2.

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.

Fannemel M, Barøy T, Holmgren A, Rødningen OK, Haugsand TM, Hansen B, Frengen E, Misceo D.

Eur J Med Genet. 2014 Sep;57(9):513-9. doi: 10.1016/j.ejmg.2014.05.008. Epub 2014 Jun 7.

PMID:
24911659
3.

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.

Lévy J, Coussement A, Dupont C, Guimiot F, Baumann C, Viot G, Passemard S, Capri Y, Drunat S, Verloes A, Pipiras E, Benzacken B, Dupont JM, Tabet AC.

Am J Med Genet A. 2017 Aug;173(8):2081-2087. doi: 10.1002/ajmg.a.38302. Epub 2017 Jun 1.

PMID:
28573701
4.

Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients.

Shimojima K, Okamoto N, Yamamoto T.

Congenit Anom (Kyoto). 2015 Aug;55(3):125-32. doi: 10.1111/cga.12112. Review.

PMID:
25900130
5.

Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.

Malenfant P, Liu X, Hudson ML, Qiao Y, Hrynchak M, Riendeau N, Hildebrand MJ, Cohen IL, Chudley AE, Forster-Gibson C, Mickelson EC, Rajcan-Separovic E, Lewis ME, Holden JJ.

J Autism Dev Disord. 2012 Jul;42(7):1459-69. doi: 10.1007/s10803-011-1389-4.

PMID:
22048961
6.

Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class.

Peters SU, Horowitz L, Barbieri-Welge R, Taylor JL, Hundley RJ.

J Child Psychol Psychiatry. 2012 Feb;53(2):152-9. doi: 10.1111/j.1469-7610.2011.02455.x. Epub 2011 Aug 10.

PMID:
21831244
7.

Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.

Jorgez CJ, Rosenfeld JA, Wilken NR, Vangapandu HV, Sahin A, Pham D, Carvalho CM, Bandholz A, Miller A, Weaver DD, Burton B, Babu D, Bamforth JS, Wilks T, Flynn DP, Roeder E, Patel A, Cheung SW, Lupski JR, Lamb DJ.

PLoS One. 2014 Sep 9;9(9):e107028. doi: 10.1371/journal.pone.0107028. eCollection 2014.

8.

Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).

Kantojärvi K, Kotala I, Rehnström K, Ylisaukko-Oja T, Vanhala R, von Wendt TN, von Wendt L, Järvelä I.

Autism Res. 2011 Jun;4(3):228-33. doi: 10.1002/aur.187. Epub 2011 Feb 22.

PMID:
21384559
9.

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH.

Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011.

10.

Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.

Pagnamenta AT, Bacchelli E, de Jonge MV, Mirza G, Scerri TS, Minopoli F, Chiocchetti A, Ludwig KU, Hoffmann P, Paracchini S, Lowy E, Harold DH, Chapman JA, Klauck SM, Poustka F, Houben RH, Staal WG, Ophoff RA, O'Donovan MC, Williams J, Nöthen MM, Schulte-Körne G, Deloukas P, Ragoussis J, Bailey AJ, Maestrini E, Monaco AP; International Molecular Genetic Study Of Autism Consortium.

Biol Psychiatry. 2010 Aug 15;68(4):320-8. doi: 10.1016/j.biopsych.2010.02.002. Epub 2010 Mar 26.

11.

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW.

J Med Genet. 2010 Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15.

PMID:
19755429
12.

QTL replication and targeted association highlight the nerve growth factor gene for nonverbal communication deficits in autism spectrum disorders.

Lu AT, Yoon J, Geschwind DH, Cantor RM.

Mol Psychiatry. 2013 Feb;18(2):226-35. doi: 10.1038/mp.2011.155. Epub 2011 Nov 22.

13.

No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set.

Allen-Brady K, Cai G, Cannon D, Robison R, McMahon WM, Coon H, Buxbaum JD.

Autism Res. 2011 Aug;4(4):293-6. doi: 10.1002/aur.195. Epub 2011 Apr 12.

PMID:
21491612
14.

Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder.

Vardarajan BN, Eran A, Jung JY, Kunkel LM, Wall DP.

Transl Psychiatry. 2013 May 28;3:e262. doi: 10.1038/tp.2013.38.

15.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
16.

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.

McInnes LA, Nakamine A, Pilorge M, Brandt T, Jiménez González P, Fallas M, Manghi ER, Edelmann L, Glessner J, Hakonarson H, Betancur C, Buxbaum JD.

Mol Autism. 2010 Mar 19;1(1):5. doi: 10.1186/2040-2392-1-5.

17.

A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome.

Hancarova M, Simandlova M, Drabova J, Mannik K, Kurg A, Sedlacek Z.

Am J Med Genet A. 2013 Apr;161A(4):865-70. doi: 10.1002/ajmg.a.35783. Epub 2013 Mar 12.

PMID:
23495096
18.

Evidence for interaction between markers in GABA(A) receptor subunit genes in an Argentinean autism spectrum disorder population.

Sesarini CV, Costa L, Naymark M, Grañana N, Cajal AR, García Coto M, Pallia RC, Argibay PF.

Autism Res. 2014 Feb;7(1):162-6. doi: 10.1002/aur.1353. Epub 2013 Nov 18.

PMID:
24249596
19.

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

Babbs C, Lloyd D, Pagnamenta AT, Twigg SR, Green J, McGowan SJ, Mirza G, Naples R, Sharma VP, Volpi EV, Buckle VJ, Wall SA, Knight SJ; International Molecular Genetic Study of Autism Consortium (IMGSAC), Parr JR, Wilkie AO.

J Med Genet. 2014 Nov;51(11):737-47. doi: 10.1136/jmedgenet-2014-102582. Epub 2014 Sep 16.

20.

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

Leppa VM, Kravitz SN, Martin CL, Andrieux J, Le Caignec C, Martin-Coignard D, DyBuncio C, Sanders SJ, Lowe JK, Cantor RM, Geschwind DH.

Am J Hum Genet. 2016 Sep 1;99(3):540-554. doi: 10.1016/j.ajhg.2016.06.036. Epub 2016 Aug 25.

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