Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 93

1.

Identifying autism loci and genes by tracing recent shared ancestry.

Morrow EM, Yoo SY, Flavell SW, Kim TK, Lin Y, Hill RS, Mukaddes NM, Balkhy S, Gascon G, Hashmi A, Al-Saad S, Ware J, Joseph RM, Greenblatt R, Gleason D, Ertelt JA, Apse KA, Bodell A, Partlow JN, Barry B, Yao H, Markianos K, Ferland RJ, Greenberg ME, Walsh CA.

Science. 2008 Jul 11;321(5886):218-23. doi: 10.1126/science.1157657. Erratum in: Science. 2010 Dec 24;330(6012):1746.

2.

Genetics. Insights into the pathogenesis of autism.

Sutcliffe JS.

Science. 2008 Jul 11;321(5886):208-9. doi: 10.1126/science.1160555. No abstract available.

PMID:
18621658
3.

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

Chahrour MH, Yu TW, Lim ET, Ataman B, Coulter ME, Hill RS, Stevens CR, Schubert CR; ARRA Autism Sequencing Collaboration., Greenberg ME, Gabriel SB, Walsh CA.

PLoS Genet. 2012;8(4):e1002635. doi: 10.1371/journal.pgen.1002635.

4.

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC.

Am J Hum Genet. 2005 Dec;77(6):1021-33.

5.

Genes for endosomal NHE6 and NHE9 are misregulated in autism brains.

Schwede M, Garbett K, Mirnics K, Geschwind DH, Morrow EM.

Mol Psychiatry. 2014 Mar;19(3):277-9. doi: 10.1038/mp.2013.28. No abstract available.

6.

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.

Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB.

Am J Med Genet A. 2013 Jan;161A(1):131-6. doi: 10.1002/ajmg.a.35700.

7.

Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.

Ahmed I, Rafiq MA, Vincent JB, Bhatti A, Ayub M, John P.

Acta Neuropsychiatr. 2015 Feb;27(1):38-47. doi: 10.1017/neu.2014.37.

PMID:
25434728
8.

Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.

Beryozkin A, Zelinger L, Bandah-Rozenfeld D, Shevach E, Harel A, Storm T, Sagi M, Eli D, Merin S, Banin E, Sharon D.

Invest Ophthalmol Vis Sci. 2014 Feb 24;55(2):1149-60. doi: 10.1167/iovs.13-13625.

PMID:
24474277
9.

Homozygosity analysis in subjects with autistic spectrum disorder.

Adi A, Tawil B, Aldosari M, Shinwari J, Nester M, Aldhalaan H, Alshamrani H, Ghannam M, Meyer B, Al Tassan N.

Mol Med Rep. 2015 Aug;12(2):2307-12. doi: 10.3892/mmr.2015.3663.

PMID:
25901489
10.

Pitfalls in homozygosity mapping.

Miano MG, Jacobson SG, Carothers A, Hanson I, Teague P, Lovell J, Cideciyan AV, Haider N, Stone EM, Sheffield VC, Wright AF.

Am J Hum Genet. 2000 Nov;67(5):1348-51.

12.

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.

Nikopoulos K, Avila-Fernandez A, Corton M, Lopez-Molina MI, Perez-Carro R, Bontadelli L, Di Gioia SA, Zurita O, Garcia-Sandoval B, Rivolta C, Ayuso C.

Sci Rep. 2015 Sep 9;5:13902. doi: 10.1038/srep13902.

13.
14.

Discovery of rare homozygous mutations from studies of consanguineous pedigrees.

Alkuraya FS.

Curr Protoc Hum Genet. 2012 Oct;Chapter 6:Unit6.12. doi: 10.1002/0471142905.hg0612s75. Review.

PMID:
23074070
15.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

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

PMID:
15121991
16.

Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.

Srilekha S, Arokiasamy T, Srikrupa NN, Umashankar V, Meenakshi S, Sen P, Kapur S, Soumittra N.

PLoS One. 2015 Jul 6;10(7):e0131679. doi: 10.1371/journal.pone.0131679.

17.

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.

Lezirovitz K, Pardono E, de Mello Auricchio MT, de Carvalho E Silva FL, Lopes JJ, Abreu-Silva RS, Romanos J, Batissoco AC, Mingroni-Netto RC.

Eur J Hum Genet. 2008 Jan;16(1):89-96. Erratum in: Eur J Hum Genet. 2008 May;16(5):660.

18.

Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes.

Müller T, Wijmenga C, Phillips AD, Janecke A, Houwen RH, Fischer H, Ellemunter H, Frühwirth M, Offner F, Hofer S, Müller W, Booth IW, Heinz-Erian P.

Gastroenterology. 2000 Dec;119(6):1506-13.

PMID:
11113072
19.

A double hit implicates DIAPH3 as an autism risk gene.

Vorstman JA, van Daalen E, Jalali GR, Schmidt ER, Pasterkamp RJ, de Jonge M, Hennekam EA, Janson E, Staal WG, van der Zwaag B, Burbach JP, Kahn RS, Emanuel BS, van Engeland H, Ophoff RA.

Mol Psychiatry. 2011 Apr;16(4):442-51. doi: 10.1038/mp.2010.26.

20.

Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14.

Ma DQ, Cuccaro ML, Jaworski JM, Haynes CS, Stephan DA, Parod J, Abramson RK, Wright HH, Gilbert JR, Haines JL, Pericak-Vance MA.

Mol Psychiatry. 2007 Apr;12(4):376-84.

PMID:
17179998
Items per page

Supplemental Content

Support Center