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Results: 1 to 20 of 270

1.
2.

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications.

Rosenfeld JA, Coppinger J, Bejjani BA, Girirajan S, Eichler EE, Shaffer LG, Ballif BC.

J Neurodev Disord. 2010 Mar;2(1):26-38.

PMID:
21731881
[PubMed]
Free PMC Article
3.

Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, United States, 2006.

Autism and Developmental Disabilities Monitoring Network Surveillance Year 2006 Principal Investigators; Centers for Disease Control and Prevention (CDC).

MMWR Surveill Summ. 2009 Dec 18;58(10):1-20. Erratum in: MMWR Surveill Summ. 2010 Aug 6;59(30):956.

PMID:
20023608
[PubMed - indexed for MEDLINE]
Free Article
4.

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
5.

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.

Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, Lanpher B, Nagl S, Herding HS, Nevinny-Stickel C, Immken LL, Patel GS, German JR, Beaudet AL, Stankiewicz P.

Nat Genet. 2009 Dec;41(12):1269-71. doi: 10.1038/ng.481. Epub 2009 Nov 8.

PMID:
19898479
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Microduplications of 16p11.2 are associated with schizophrenia.

McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, Perkins DO, Dickel DE, Kusenda M, Krastoshevsky O, Krause V, Kumar RA, Grozeva D, Malhotra D, Walsh T, Zackai EH, Kaplan P, Ganesh J, Krantz ID, Spinner NB, Roccanova P, Bhandari A, Pavon K, Lakshmi B, Leotta A, Kendall J, Lee YH, Vacic V, Gary S, Iakoucheva LM, Crow TJ, Christian SL, Lieberman JA, Stroup TS, Lehtimäki T, Puura K, Haldeman-Englert C, Pearl J, Goodell M, Willour VL, Derosse P, Steele J, Kassem L, Wolff J, Chitkara N, McMahon FJ, Malhotra AK, Potash JB, Schulze TG, Nöthen MM, Cichon S, Rietschel M, Leibenluft E, Kustanovich V, Lajonchere CM, Sutcliffe JS, Skuse D, Gill M, Gallagher L, Mendell NR; Wellcome Trust Case Control Consortium, Craddock N, Owen MJ, O'Donovan MC, Shaikh TH, Susser E, Delisi LE, Sullivan PF, Deutsch CK, Rapoport J, Levy DL, King MC, Sebat J.

Nat Genet. 2009 Nov;41(11):1223-7. doi: 10.1038/ng.474. Epub 2009 Oct 25.

PMID:
19855392
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007.

Kogan MD, Blumberg SJ, Schieve LA, Boyle CA, Perrin JM, Ghandour RM, Singh GK, Strickland BB, Trevathan E, van Dyck PC.

Pediatrics. 2009 Nov;124(5):1395-403. doi: 10.1542/peds.2009-1522. Epub 2009 Oct 5.

PMID:
19805460
[PubMed - indexed for MEDLINE]
Free Article
8.

Parents' perceptions of autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: Recommendations for genetic counselors.

Selkirk CG, McCarthy Veach P, Lian F, Schimmenti L, LeRoy BS.

J Genet Couns. 2009 Oct;18(5):507-19. doi: 10.1007/s10897-009-9233-0. Epub 2009 Jun 2.

PMID:
19488842
[PubMed - indexed for MEDLINE]
9.

Twenty-year outcome for individuals with autism and average or near-average cognitive abilities.

Farley MA, McMahon WM, Fombonne E, Jenson WR, Miller J, Gardner M, Block H, Pingree CB, Ritvo ER, Ritvo RA, Coon H.

Autism Res. 2009 Apr;2(2):109-18. doi: 10.1002/aur.69.

PMID:
19455645
[PubMed - indexed for MEDLINE]
10.

The role of epilepsy and epileptiform EEGs in autism spectrum disorders.

Spence SJ, Schneider MT.

Pediatr Res. 2009 Jun;65(6):599-606. doi: 10.1203/PDR.0b013e31819e7168. Review.

PMID:
19454962
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
12.

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.

Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T, Game RM, Rudd DS, Zurawiecki D, McDougle CJ, Davis LK, Miller J, Posey DJ, Michaels S, Kolevzon A, Silverman JM, Bernier R, Levy SE, Schultz RT, Dawson G, Owley T, McMahon WM, Wassink TH, Sweeney JA, Nurnberger JI, Coon H, Sutcliffe JS, Minshew NJ, Grant SF, Bucan M, Cook EH, Buxbaum JD, Devlin B, Schellenberg GD, Hakonarson H.

Nature. 2009 May 28;459(7246):569-73. doi: 10.1038/nature07953. Epub 2009 Apr 28.

PMID:
19404257
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Autism genetics: strategies, challenges, and opportunities.

O'Roak BJ, State MW.

Autism Res. 2008 Feb;1(1):4-17. doi: 10.1002/aur.3. Review.

PMID:
19360646
[PubMed - indexed for MEDLINE]
14.

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T.

J Med Genet. 2009 Jun;46(6):382-8. doi: 10.1136/jmg.2008.064378. Epub 2009 Mar 15.

PMID:
19289393
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

Varga EA, Pastore M, Prior T, Herman GE, McBride KL.

Genet Med. 2009 Feb;11(2):111-7. doi: 10.1097/GIM.0b013e31818fd762.

PMID:
19265751
[PubMed - indexed for MEDLINE]
16.

Autism spectrum disorders in children and adolescents with Moebius sequence.

Briegel W, Schimek M, Kamp-Becker I, Hofmann C, Schwab KO.

Eur Child Adolesc Psychiatry. 2009 Aug;18(8):515-9. doi: 10.1007/s00787-009-0003-1. Epub 2009 Mar 3.

PMID:
19255803
[PubMed - indexed for MEDLINE]
17.

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

Van der Aa N, Rooms L, Vandeweyer G, van den Ende J, Reyniers E, Fichera M, Romano C, Delle Chiaie B, Mortier G, Menten B, Destrée A, Maystadt I, Männik K, Kurg A, Reimand T, McMullan D, Oley C, Brueton L, Bongers EM, van Bon BW, Pfund R, Jacquemont S, Ferrarini A, Martinet D, Schrander-Stumpel C, Stegmann AP, Frints SG, de Vries BB, Ceulemans B, Kooy RF.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):94-100. doi: 10.1016/j.ejmg.2009.02.006. Epub 2009 Feb 26.

PMID:
19249392
[PubMed - indexed for MEDLINE]
18.

The rise in autism and the role of age at diagnosis.

Hertz-Picciotto I, Delwiche L.

Epidemiology. 2009 Jan;20(1):84-90. doi: 10.1097/EDE.0b013e3181902d15.

PMID:
19234401
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Haploinsufficiency for Pten and Serotonin transporter cooperatively influences brain size and social behavior.

Page DT, Kuti OJ, Prestia C, Sur M.

Proc Natl Acad Sci U S A. 2009 Feb 10;106(6):1989-94. doi: 10.1073/pnas.0804428106.

PMID:
19208814
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

MRI findings in 77 children with non-syndromic autistic disorder.

Boddaert N, Zilbovicius M, Philipe A, Robel L, Bourgeois M, Barthélemy C, Seidenwurm D, Meresse I, Laurier L, Desguerre I, Bahi-Buisson N, Brunelle F, Munnich A, Samson Y, Mouren MC, Chabane N.

PLoS One. 2009;4(2):e4415. doi: 10.1371/journal.pone.0004415. Epub 2009 Feb 10.

PMID:
19204795
[PubMed - indexed for MEDLINE]
Free PMC Article

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