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Results: 1 to 20 of 144

1.

Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.

Simons Vip Consortium.

Neuron. 2012 Mar 22;73(6):1063-7. doi: 10.1016/j.neuron.2012.02.014. Epub 2012 Mar 21.

PMID:
22445335
[PubMed - indexed for MEDLINE]
Free Article
2.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium.

J Med Genet. 2012 Oct;49(10):660-8. doi: 10.1136/jmedgenet-2012-101203. Erratum in: J Med Genet. 2014 Jul;51(7):478.

PMID:
23054248
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Cognitive and behavioral characterization of 16p11.2 deletion syndrome.

Hanson E, Nasir RH, Fong A, Lian A, Hundley R, Shen Y, Wu BL, Holm IA, Miller DT; 16p11.2 Study Group Clinicians.

J Dev Behav Pediatr. 2010 Oct;31(8):649-57. doi: 10.1097/DBP.0b013e3181ea50ed.

PMID:
20613623
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR.

J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12.

PMID:
19914906
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.

Van der Aa N, Vandeweyer G, Reyniers E, Kenis S, Dom L, Mortier G, Rooms L, Kooy RF.

Autism Res. 2012 Aug;5(4):277-81. doi: 10.1002/aur.1240. Epub 2012 Jun 11.

PMID:
22689534
[PubMed - indexed for MEDLINE]
7.

Association between microdeletion and microduplication at 16p11.2 and autism.

Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ; Autism Consortium.

N Engl J Med. 2008 Feb 14;358(7):667-75. doi: 10.1056/NEJMoa075974. Epub 2008 Jan 9.

PMID:
18184952
[PubMed - indexed for MEDLINE]
Free Article
8.

Narrowing the critical deletion region for autism spectrum disorders on 16p11.2.

Crepel A, Steyaert J, De la Marche W, De Wolf V, Fryns JP, Noens I, Devriendt K, Peeters H.

Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):243-5. doi: 10.1002/ajmg.b.31163. Epub 2011 Jan 11. No abstract available.

PMID:
21302354
[PubMed - indexed for MEDLINE]
9.

Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: a systematic review and meta-analysis.

Walsh KM, Bracken MB.

Genet Med. 2011 May;13(5):377-84. doi: 10.1097/GIM.0b013e3182076c0c. Review.

PMID:
21289514
[PubMed - indexed for MEDLINE]
10.

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting.

Betancur C.

Brain Res. 2011 Mar 22;1380:42-77. doi: 10.1016/j.brainres.2010.11.078. Epub 2010 Dec 1. Review.

PMID:
21129364
[PubMed - indexed for MEDLINE]
11.

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.

Sahoo T, Theisen A, Rosenfeld JA, Lamb AN, Ravnan JB, Schultz RA, Torchia BS, Neill N, Casci I, Bejjani BA, Shaffer LG.

Genet Med. 2011 Oct;13(10):868-80. doi: 10.1097/GIM.0b013e3182217a06.

PMID:
21792059
[PubMed - indexed for MEDLINE]
12.

Gene and miRNA expression profiles in autism spectrum disorders.

Ghahramani Seno MM, Hu P, Gwadry FG, Pinto D, Marshall CR, Casallo G, Scherer SW.

Brain Res. 2011 Mar 22;1380:85-97. doi: 10.1016/j.brainres.2010.09.046. Epub 2010 Sep 21.

PMID:
20868653
[PubMed - indexed for MEDLINE]
13.

Linguistic and psychomotor development in children with chromosome 14 deletions.

Zampini L, D'Odorico L, Zanchi P, Zollino M, Neri G.

Clin Linguist Phon. 2012 Dec;26(11-12):962-73. doi: 10.3109/02699206.2012.728669.

PMID:
23057796
[PubMed - indexed for MEDLINE]
14.

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia.

Schaaf CP, Goin-Kochel RP, Nowell KP, Hunter JV, Aleck KA, Cox S, Patel A, Bacino CA, Shinawi M.

Eur J Hum Genet. 2011 Feb;19(2):152-6. doi: 10.1038/ejhg.2010.168. Epub 2010 Oct 20.

PMID:
20959866
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.

Konyukh M, Delorme R, Chaste P, Leblond C, Lemière N, Nygren G, Anckarsäter H, Rastam M, Ståhlberg O, Amsellem F, Gillberg IC, Mouren-Simeoni MC, Herbrecht E, Fauchereau F, Toro R, Gillberg C, Leboyer M, Bourgeron T.

PLoS One. 2011 Mar 4;6(3):e17289. doi: 10.1371/journal.pone.0017289.

PMID:
21394203
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Microdeletions in 16p11.2 and 13q31.3 associated with developmental delay and generalized overgrowth.

George AM, Taylor J, Love DR.

Genet Mol Res. 2012 Sep 3;11(3):3133-7.

PMID:
23007991
[PubMed - indexed for MEDLINE]
Free Article
17.

Copy number and sequence variants implicate APBA2 as an autism candidate gene.

Babatz TD, Kumar RA, Sudi J, Dobyns WB, Christian SL.

Autism Res. 2009 Dec;2(6):359-64. doi: 10.1002/aur.107.

PMID:
20029827
[PubMed - indexed for MEDLINE]
18.

Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders.

Ozgen HM, van Daalen E, Bolton PF, Maloney VK, Huang S, Cresswell L, van den Boogaard MJ, Eleveld MJ, van 't Slot R, Hochstenbach R, Beemer FA, Barrow M, Barber JC, Poot M.

Clin Genet. 2009 Oct;76(4):348-56. doi: 10.1111/j.1399-0004.2009.01254.x.

PMID:
19793310
[PubMed - indexed for MEDLINE]
19.

[Genetic analyses for identifying molecular mechanisms in autism spectrum disorders].

Chiocchetti A, Klauck SM.

Z Kinder Jugendpsychiatr Psychother. 2011 Mar;39(2):101-11. doi: 10.1024/1422-4917/a000096. Review. German.

PMID:
21442598
[PubMed - indexed for MEDLINE]
20.

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.

Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, Korf BR, Carroll AJ.

Am J Med Genet A. 2011 Oct;155A(10):2386-96. doi: 10.1002/ajmg.a.34177.

PMID:
22031302
[PubMed - indexed for MEDLINE]

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