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Results: 1 to 20 of 92

1.

A genome-wide linkage and association scan reveals novel loci for autism.

Weiss LA, Arking DE; Gene Discovery Project of Johns Hopkins & the Autism Consortium, Daly MJ, Chakravarti A.

Nature. 2009 Oct 8;461(7265):802-8. doi: 10.1038/nature08490.

PMID:
19812673
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Finding the missing heritability of complex diseases.

Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM.

Nature. 2009 Oct 8;461(7265):747-53. doi: 10.1038/nature08494. Review.

PMID:
19812666
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Association of Y chromosome haplotypes with autism.

Serajee FJ, Mahbubul Huq AH.

J Child Neurol. 2009 Oct;24(10):1258-61. doi: 10.1177/0883073809333530. Epub 2009 Jul 15.

PMID:
19605777
[PubMed - indexed for MEDLINE]
4.

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.

Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li M, Cantor RM, Minshew NJ, Sutcliffe JS, Cook EH, Dawson G, Buxbaum JD, Grant SF, Schellenberg GD, Geschwind DH, Hakonarson H.

PLoS Genet. 2009 Jun;5(6):e1000536. doi: 10.1371/journal.pgen.1000536. Epub 2009 Jun 26.

PMID:
19557195
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Gene-network analysis identifies susceptibility genes related to glycobiology in autism.

van der Zwaag B, Franke L, Poot M, Hochstenbach R, Spierenburg HA, Vorstman JA, van Daalen E, de Jonge MV, Verbeek NE, Brilstra EH, van 't Slot R, Ophoff RA, van Es MA, Blauw HM, Veldink JH, Buizer-Voskamp JE, Beemer FA, van den Berg LH, Wijmenga C, van Amstel HK, van Engeland H, Burbach JP, Staal WG.

PLoS One. 2009 May 28;4(5):e5324. doi: 10.1371/journal.pone.0005324.

PMID:
19492091
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.

Ma D, Salyakina D, Jaworski JM, Konidari I, Whitehead PL, Andersen AN, Hoffman JD, Slifer SH, Hedges DJ, Cukier HN, Griswold AJ, McCauley JL, Beecham GW, Wright HH, Abramson RK, Martin ER, Hussman JP, Gilbert JR, Cuccaro ML, Haines JL, Pericak-Vance MA.

Ann Hum Genet. 2009 May;73(Pt 3):263-73. doi: 10.1111/j.1469-1809.2009.00523.x.

PMID:
19456320
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
8.

Common genetic variants on 5p14.1 associate with autism spectrum disorders.

Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H.

Nature. 2009 May 28;459(7246):528-33. doi: 10.1038/nature07999. Epub 2009 Apr 28.

PMID:
19404256
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.

Sykes NH, Toma C, Wilson N, Volpi EV, Sousa I, Pagnamenta AT, Tancredi R, Battaglia A, Maestrini E, Bailey AJ, Monaco AP; International Molecular Genetic Study of Autism Consortium (IMGSAC).

Eur J Hum Genet. 2009 Oct;17(10):1347-53. doi: 10.1038/ejhg.2009.47. Epub 2009 Apr 22.

PMID:
19384346
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Copy number variants, diseases and gene expression.

Henrichsen CN, Chaignat E, Reymond A.

Hum Mol Genet. 2009 Apr 15;18(R1):R1-8. doi: 10.1093/hmg/ddp011. Review.

PMID:
19297395
[PubMed - indexed for MEDLINE]
Free Article
11.

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

Depienne C, Moreno-De-Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R, Chaste P, Siffroi JP, Chantot-Bastaraud S, Benyahia B, Trouillard O, Nygren G, Kopp S, Johansson M, Rastam M, Burglen L, Leguern E, Verloes A, Leboyer M, Brice A, Gillberg C, Betancur C.

Biol Psychiatry. 2009 Aug 15;66(4):349-59. doi: 10.1016/j.biopsych.2009.01.025. Epub 2009 Mar 17.

PMID:
19278672
[PubMed - indexed for MEDLINE]
12.

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]
13.

Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditions.

Campbell DB, Buie TM, Winter H, Bauman M, Sutcliffe JS, Perrin JM, Levitt P.

Pediatrics. 2009 Mar;123(3):1018-24. doi: 10.1542/peds.2008-0819. Erratum in: Pediatrics. 2009 Apr;123(4):1255.

PMID:
19255034
[PubMed - indexed for MEDLINE]
14.

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

Cuscó I, Medrano A, Gener B, Vilardell M, Gallastegui F, Villa O, González E, Rodríguez-Santiago B, Vilella E, Del Campo M, Pérez-Jurado LA.

Hum Mol Genet. 2009 May 15;18(10):1795-804. doi: 10.1093/hmg/ddp092. Epub 2009 Feb 26.

PMID:
19246517
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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
16.

An investigation of ribosomal protein L10 gene in autism spectrum disorders.

Gong X, Delorme R, Fauchereau F, Durand CM, Chaste P, Betancur C, Goubran-Botros H, Nygren G, Anckarsäter H, Rastam M, Gillberg IC, Kopp S, Mouren-Simeoni MC, Gillberg C, Leboyer M, Bourgeron T.

BMC Med Genet. 2009 Jan 23;10:7. doi: 10.1186/1471-2350-10-7.

PMID:
19166581
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Advances in the treatment of fragile X syndrome.

Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, Kronk R, Delahunty C, Hessl D, Visootsak J, Picker J, Gane L, Tranfaglia M.

Pediatrics. 2009 Jan;123(1):378-90. doi: 10.1542/peds.2008-0317. Review.

PMID:
19117905
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

MET and autism susceptibility: family and case-control studies.

Sousa I, Clark TG, Toma C, Kobayashi K, Choma M, Holt R, Sykes NH, Lamb JA, Bailey AJ, Battaglia A, Maestrini E, Monaco AP; International Molecular Genetic Study of Autism Consortium (IMGSAC).

Eur J Hum Genet. 2009 Jun;17(6):749-58. doi: 10.1038/ejhg.2008.215. Epub 2008 Nov 12.

PMID:
19002214
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Oxytocin, vasopressin, and the neurogenetics of sociality.

Donaldson ZR, Young LJ.

Science. 2008 Nov 7;322(5903):900-4. doi: 10.1126/science.1158668. Review.

PMID:
18988842
[PubMed - indexed for MEDLINE]
20.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP.

Eur J Hum Genet. 2009 Apr;17(4):444-53. doi: 10.1038/ejhg.2008.208. Epub 2008 Nov 5. Erratum in: Eur J Hum Genet. 2009 May;17(5):697.

PMID:
18985075
[PubMed - indexed for MEDLINE]
Free PMC Article
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