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Items: 1 to 20 of 47

1.

A map of human genome variation from population-scale sequencing.

1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.

Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Erratum in: Nature. 2011 May 26;473(7348):544. Xue, Yali [added]; Cartwright, Reed A [added]; Altshuler, David L [corrected to Altshuler, David]; Kebbel, Andrew [corrected to Keebler, Jonathan]; Koko-Gonzales, Paula [corrected to Kokko-Gonzales, Paula]; Nickerson, Debbie A [corrected to Nickerson, Deborah A].

2.

Clinical genetic testing for patients with autism spectrum disorders.

Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW 3rd, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT; Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration.

Pediatrics. 2010 Apr;125(4):e727-35. doi: 10.1542/peds.2009-1684. Epub 2010 Mar 15.

3.

Hotspots of large rare deletions in the human genome.

Bradley WE, Raelson JV, Dubois DY, Godin E, Fournier H, Privé C, Allard R, Pinchuk V, Lapalme M, Paulussen RJ, Belouchi A.

PLoS One. 2010 Feb 25;5(2):e9401. doi: 10.1371/journal.pone.0009401.

4.

The protein tyrosine phosphatases PTPRZ and PTPRG bind to distinct members of the contactin family of neural recognition molecules.

Bouyain S, Watkins DJ.

Proc Natl Acad Sci U S A. 2010 Feb 9;107(6):2443-8. doi: 10.1073/pnas.0911235107. Epub 2010 Jan 21.

5.

Terminal 3p deletions in two families--correlation between molecular karyotype and phenotype.

Pohjola P, de Leeuw N, Penttinen M, Kääriäinen H.

Am J Med Genet A. 2010 Feb;152A(2):441-6. doi: 10.1002/ajmg.a.33215.

PMID:
20101686
6.

Deficiency of neural recognition molecule NB-2 affects the development of glutamatergic auditory pathways from the ventral cochlear nucleus to the superior olivary complex in mouse.

Toyoshima M, Sakurai K, Shimazaki K, Takeda Y, Shimoda Y, Watanabe K.

Dev Biol. 2009 Dec 15;336(2):192-200. doi: 10.1016/j.ydbio.2009.09.043. Epub 2009 Oct 7.

7.

Microarray based analysis of 3p25-p26 deletions (3p- syndrome).

Shuib S, McMullan D, Rattenberry E, Barber RM, Rahman F, Zatyka M, Chapman C, Macdonald F, Latif F, Davison V, Maher ER.

Am J Med Genet A. 2009 Oct;149A(10):2099-105. doi: 10.1002/ajmg.a.32824.

PMID:
19760623
8.

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.

9.

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
10.

Contactins: emerging key roles in the development and function of the nervous system.

Shimoda Y, Watanabe K.

Cell Adh Migr. 2009 Jan-Mar;3(1):64-70. Epub 2009 Jan 6. Review.

11.

Contact in the genetics of autism and schizophrenia.

Burbach JP, van der Zwaag B.

Trends Neurosci. 2009 Feb;32(2):69-72. doi: 10.1016/j.tins.2008.11.002. Epub 2009 Jan 8.

PMID:
19135727
12.

The immunoglobulin superfamily of neuronal cell adhesion molecules: lessons from animal models and correlation with human disease.

Katidou M, Vidaki M, Strigini M, Karagogeos D.

Biotechnol J. 2008 Dec;3(12):1564-80. doi: 10.1002/biot.200800281. Review. Erratum in: Biotechnol J. 2009 Mar;4(3):416.

PMID:
19072911
13.

Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.

Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Challis D, Mowat D, Ranscht B, Bahlo M, Froehner SC, North KN.

Am J Hum Genet. 2008 Dec;83(6):714-24. doi: 10.1016/j.ajhg.2008.10.022. Epub 2008 Nov 20.

14.

Molecular characterization of a patient with 3p deletion syndrome and a review of the literature.

Fernandez TV, García-González IJ, Mason CE, Hernández-Zaragoza G, Ledezma-Rodríguez VC, Anguiano-Alvarez VM, E'Vega R, Gutiérrez-Angulo M, Maya ML, García-Bejarano HE, González-Cruz M, Barrios S, Atorga R, López-Cardona MG, Armendariz-Borunda J, State MW, Dávalos NO.

Am J Med Genet A. 2008 Nov 1;146A(21):2746-52. doi: 10.1002/ajmg.a.32533. Review.

PMID:
18837054
15.

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE.

N Engl J Med. 2008 Oct 16;359(16):1685-99. doi: 10.1056/NEJMoa0805384. Epub 2008 Sep 10.

16.

Impairment of learning and memory in TAG-1 deficient mice associated with shorter CNS internodes and disrupted juxtaparanodes.

Savvaki M, Panagiotaropoulos T, Stamatakis A, Sargiannidou I, Karatzioula P, Watanabe K, Stylianopoulou F, Karagogeos D, Kleopa KA.

Mol Cell Neurosci. 2008 Nov;39(3):478-90. doi: 10.1016/j.mcn.2008.07.025. Epub 2008 Aug 9.

PMID:
18760366
17.

Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data.

Li B, Leal SM.

Am J Hum Genet. 2008 Sep;83(3):311-21. doi: 10.1016/j.ajhg.2008.06.024. Epub 2008 Aug 7.

18.

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.

19.

Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.

Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW.

Am J Hum Genet. 2008 Jun;82(6):1385. No abstract available.

20.

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.

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