Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 62

1.

Mutations in the TSGA14 gene in families with autism spectrum disorders.

Korvatska O, Estes A, Munson J, Dawson G, Bekris LM, Kohen R, Yu CE, Schellenberg GD, Raskind WH.

Am J Med Genet B Neuropsychiatr Genet. 2011 Apr;156B(3):303-11. doi: 10.1002/ajmg.b.31162. Epub 2011 Jan 13.

2.

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Z├╝chner S, Mangos S, Gonzalez-Quintana J, Wang L, McGee S, Reiser J, Martin E, Nickerson DA, Hershberger RE.

Am J Hum Genet. 2011 Mar 11;88(3):273-82. doi: 10.1016/j.ajhg.2011.01.016. Epub 2011 Feb 25.

3.

Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16.

Chapman NH, Estes A, Munson J, Bernier R, Webb SJ, Rothstein JH, Minshew NJ, Dawson G, Schellenberg GD, Wijsman EM.

Hum Genet. 2011 Jan;129(1):59-70. doi: 10.1007/s00439-010-0899-z. Epub 2010 Oct 21.

4.

The genetics of child psychiatric disorders: focus on autism and Tourette syndrome.

State MW.

Neuron. 2010 Oct 21;68(2):254-69. doi: 10.1016/j.neuron.2010.10.004. Review.

5.

Association study between GNB1L and three major mental disorders in Chinese Han populations.

Li Y, Zhao Q, Wang T, Liu J, Li J, Li T, Zeng Z, Feng G, He L, Shi Y.

Psychiatry Res. 2011 May 30;187(3):457-9. doi: 10.1016/j.psychres.2010.04.019. Epub 2010 Jun 9.

PMID:
20538345
6.

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA.

Nat Genet. 2010 Jun;42(6):489-91. doi: 10.1038/ng.589. Epub 2010 May 16.

PMID:
20473310
7.

Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease.

Bassett AS, Scherer SW, Brzustowicz LM.

Am J Psychiatry. 2010 Aug;167(8):899-914. doi: 10.1176/appi.ajp.2009.09071016. Epub 2010 May 3. Review.

8.

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes.

Goode DL, Cooper GM, Schmutz J, Dickson M, Gonzales E, Tsai M, Karra K, Davydov E, Batzoglou S, Myers RM, Sidow A.

Genome Res. 2010 Mar;20(3):301-10. doi: 10.1101/gr.102210.109. Epub 2010 Jan 12.

9.

Structural variation in the human genome and its role in disease.

Stankiewicz P, Lupski JR.

Annu Rev Med. 2010;61:437-55. doi: 10.1146/annurev-med-100708-204735. Review.

PMID:
20059347
10.

Association of syndromic mental retardation and autism with 22q11.2 duplication.

Lo-Castro A, Galasso C, Cerminara C, El-Malhany N, Benedetti S, Nardone AM, Curatolo P.

Neuropediatrics. 2009 Jun;40(3):137-40. doi: 10.1055/s-0029-1237724. Epub 2009 Dec 17.

PMID:
20020400
11.

Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome.

Niklasson L, Rasmussen P, Oskarsd├│ttir S, Gillberg C.

Res Dev Disabil. 2009 Jul-Aug;30(4):763-73. doi: 10.1016/j.ridd.2008.10.007. Epub 2008 Dec 13.

PMID:
19070990
12.

Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study.

Ramelli GP, Silacci C, Ferrarini A, Cattaneo C, Visconti P, Pescia G.

Dev Med Child Neurol. 2008 Dec;50(12):953-5. doi: 10.1111/j.1469-8749.2008.03048.x.

13.

Supportive evidence for reduced expression of GNB1L in schizophrenia.

Ishiguro H, Koga M, Horiuchi Y, Noguchi E, Morikawa M, Suzuki Y, Arai M, Niizato K, Iritani S, Itokawa M, Inada T, Iwata N, Ozaki N, Ujike H, Kunugi H, Sasaki T, Takahashi M, Watanabe Y, Someya T, Kakita A, Takahashi H, Nawa H, Arinami T.

Schizophr Bull. 2010 Jul;36(4):756-65. doi: 10.1093/schbul/sbn160. Epub 2008 Nov 14.

14.

Copy-number variations associated with neuropsychiatric conditions.

Cook EH Jr, Scherer SW.

Nature. 2008 Oct 16;455(7215):919-23. doi: 10.1038/nature07458. Review.

PMID:
18923514
15.

The neurocognitive phenotype in velo-cardio-facial syndrome: a developmental perspective.

Antshel KM, Fremont W, Kates WR.

Dev Disabil Res Rev. 2008;14(1):43-51. doi: 10.1002/ddrr.7. Review.

PMID:
18636636
16.

Conversion Technology for the separation of maternal and paternal copies of any autosomal chromosome in somatic cell hybrids.

Highsmith WE Jr, Meyer KJ, Marley VM, Jenkins RB.

Curr Protoc Hum Genet. 2007 Oct;Chapter 3:Unit 3.6. doi: 10.1002/0471142905.hg0306s55.

PMID:
18428411
17.

Advances in autism genetics: on the threshold of a new neurobiology.

Abrahams BS, Geschwind DH.

Nat Rev Genet. 2008 May;9(5):341-55. doi: 10.1038/nrg2346. Review. Erratum in: Nat Rev Genet. 2008 Jun;9(6):493.

18.

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A.

Genet Med. 2008 Apr;10(4):267-77. doi: 10.1097/GIM.0b013e31816b64c2.

PMID:
18414210
19.

Disruption of neurexin 1 associated with autism spectrum disorder.

Kim HG, Kishikawa S, Higgins AW, Seong IS, Donovan DJ, Shen Y, Lally E, Weiss LA, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, Volkmar F, Klin A, Tsatsanis K, Harris DJ, Noens I, Pauls DL, Daly MJ, MacDonald ME, Morton CC, Quade BJ, Gusella JF.

Am J Hum Genet. 2008 Jan;82(1):199-207. doi: 10.1016/j.ajhg.2007.09.011.

20.

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.

Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW.

Am J Hum Genet. 2008 Jan;82(1):165-73. doi: 10.1016/j.ajhg.2007.09.017.

Supplemental Content

Support Center