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Items: 1 to 20 of 99

1.

Shining a light on CNTNAP2: complex functions to complex disorders.

Rodenas-Cuadrado P, Ho J, Vernes SC.

Eur J Hum Genet. 2014 Feb;22(2):171-8. doi: 10.1038/ejhg.2013.100. Epub 2013 May 29. Review.

2.

Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.

Poot M, Beyer V, Schwaab I, Damatova N, Van't Slot R, Prothero J, Holder SE, Haaf T.

Neurogenetics. 2010 Feb;11(1):81-9. doi: 10.1007/s10048-009-0205-1. Epub 2009 Jul 7.

PMID:
19582487
3.

CNTNAP2 variants affect early language development in the general population.

Whitehouse AJ, Bishop DV, Ang QW, Pennell CE, Fisher SE.

Genes Brain Behav. 2011 Jun;10(4):451-6. doi: 10.1111/j.1601-183X.2011.00684.x. Epub 2011 Mar 1. Erratum in: Genes Brain Behav. 2012 Jun;11(4):501.

4.

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.

Alarcón M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH.

Am J Hum Genet. 2008 Jan;82(1):150-9. doi: 10.1016/j.ajhg.2007.09.005.

5.

Variants of the CNTNAP2 5' promoter as risk factors for autism spectrum disorders: a genetic and functional approach.

Chiocchetti AG, Kopp M, Waltes R, Haslinger D, Duketis E, Jarczok TA, Poustka F, Voran A, Graab U, Meyer J, Klauck SM, Fulda S, Freitag CM.

Mol Psychiatry. 2015 Jul;20(7):839-49. doi: 10.1038/mp.2014.103. Epub 2014 Sep 16.

PMID:
25224256
6.

Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.

Newbury DF, Paracchini S, Scerri TS, Winchester L, Addis L, Richardson AJ, Walter J, Stein JF, Talcott JB, Monaco AP.

Behav Genet. 2011 Jan;41(1):90-104. doi: 10.1007/s10519-010-9424-3. Epub 2010 Dec 17.

7.

CNTNAP2 is significantly associated with schizophrenia and major depression in the Han Chinese population.

Ji W, Li T, Pan Y, Tao H, Ju K, Wen Z, Fu Y, An Z, Zhao Q, Wang T, He L, Feng G, Yi Q, Shi Y.

Psychiatry Res. 2013 May 30;207(3):225-8. doi: 10.1016/j.psychres.2012.09.024. Epub 2012 Nov 2.

PMID:
23123147
8.

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.

Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MA, Ekici AB, Reis A, Schenck A, Rauch A.

Am J Hum Genet. 2009 Nov;85(5):655-66. doi: 10.1016/j.ajhg.2009.10.004. Epub 2009 Nov 5.

9.

Genetic variation in CNTNAP2 alters brain function during linguistic processing in healthy individuals.

Whalley HC, O'Connell G, Sussmann JE, Peel A, Stanfield AC, Hayiou-Thomas ME, Johnstone EC, Lawrie SM, McIntosh AM, Hall J.

Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(8):941-8. doi: 10.1002/ajmg.b.31241. Epub 2011 Oct 10.

PMID:
21987501
10.

Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2.

Scott-Van Zeeland AA, Abrahams BS, Alvarez-Retuerto AI, Sonnenblick LI, Rudie JD, Ghahremani D, Mumford JA, Poldrack RA, Dapretto M, Geschwind DH, Bookheimer SY.

Sci Transl Med. 2010 Nov 3;2(56):56ra80. doi: 10.1126/scitranslmed.3001344.

11.

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.

Gauthier J, Siddiqui TJ, Huashan P, Yokomaku D, Hamdan FF, Champagne N, Lapointe M, Spiegelman D, Noreau A, Lafrenière RG, Fathalli F, Joober R, Krebs MO, DeLisi LE, Mottron L, Fombonne E, Michaud JL, Drapeau P, Carbonetto S, Craig AM, Rouleau GA.

Hum Genet. 2011 Oct;130(4):563-73. doi: 10.1007/s00439-011-0975-z. Epub 2011 Mar 22.

12.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.

Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, Hackmann K, Horn D, Hoyer J, Klapecki J, Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C.

BMC Med Genet. 2011 Aug 9;12:106. doi: 10.1186/1471-2350-12-106.

13.

Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment.

Rodenas-Cuadrado P, Pietrafusa N, Francavilla T, La Neve A, Striano P, Vernes SC.

BMC Med Genet. 2016 Feb 3;17:8. doi: 10.1186/s12881-016-0272-8.

14.

Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.

Toma C, Hervás A, Torrico B, Balmaña N, Salgado M, Maristany M, Vilella E, Martínez-Leal R, Planelles MI, Cuscó I, del Campo M, Pérez-Jurado LA, Caballero-Andaluz R, de Diego-Otero Y, Pérez-Costillas L, Ramos-Quiroga JA, Ribasés M, Bayés M, Cormand B.

Psychiatr Genet. 2013 Apr;23(2):82-5. doi: 10.1097/YPG.0b013e32835d6fc6.

PMID:
23277129
15.

Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2.

Tan GC, Doke TF, Ashburner J, Wood NW, Frackowiak RS.

Neuroimage. 2010 Nov 15;53(3):1030-42. doi: 10.1016/j.neuroimage.2010.02.018. Epub 2010 Feb 20.

16.

What does CNTNAP2 reveal about autism spectrum disorder?

Peñagarikano O, Geschwind DH.

Trends Mol Med. 2012 Mar;18(3):156-63. doi: 10.1016/j.molmed.2012.01.003. Epub 2012 Feb 25. Review. Erratum in: Trends Mol Med. 2012 Aug;18(8):502.

17.

A functional genetic link between distinct developmental language disorders.

Vernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod J, Groszer M, Alarcón M, Oliver PL, Davies KE, Geschwind DH, Monaco AP, Fisher SE.

N Engl J Med. 2008 Nov 27;359(22):2337-45. doi: 10.1056/NEJMoa0802828. Epub 2008 Nov 5.

18.

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.

19.

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.

Friedman JI, Vrijenhoek T, Markx S, Janssen IM, van der Vliet WA, Faas BH, Knoers NV, Cahn W, Kahn RS, Edelmann L, Davis KL, Silverman JM, Brunner HG, van Kessel AG, Wijmenga C, Ophoff RA, Veltman JA.

Mol Psychiatry. 2008 Mar;13(3):261-6. Epub 2007 Jul 24. Erratum in: Mol Psychiatry. 2010 Nov;15(11):1121.

PMID:
17646849
20.

Individual common variants exert weak effects on the risk for autism spectrum disorderspi.

Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, Corsello C, Crawford EL, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Gilbert J, Gillberg C, Glessner JT, Green A, Green J, Guter SJ, Heron EA, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Jacob S, Kenny GP, Kim C, Kolevzon A, Kustanovich V, Lajonchere CM, Lamb JA, Law-Smith M, Leboyer M, Le Couteur A, Leventhal BL, Liu XQ, Lombard F, Lord C, Lotspeich L, Lund SC, Magalhaes TR, Mantoulan C, McDougle CJ, Melhem NM, Merikangas A, Minshew NJ, Mirza GK, Munson J, Noakes C, Nygren G, Papanikolaou K, Pagnamenta AT, Parrini B, Paton T, Pickles A, Posey DJ, Poustka F, Ragoussis J, Regan R, Roberts W, Roeder K, Roge B, Rutter ML, Schlitt S, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Sykes N, Tancredi R, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wing K, Wittemeyer K, Wood S, Zurawiecki D, Zwaigenbaum L, Bailey AJ, Battaglia A, Cantor RM, Coon H, Cuccaro ML, Dawson G, Ennis S, Freitag CM, Geschwind DH, Haines JL, Klauck SM, McMahon WM, Maestrini E, Miller J, Monaco AP, Nelson SF, Nurnberger JI Jr, Oliveira G, Parr JR, Pericak-Vance MA, Piven J, Schellenberg GD, Scherer SW, Vicente AM, Wassink TH, Wijsman EM, Betancur C, Buxbaum JD, Cook EH, Gallagher L, Gill M, Hallmayer J, Paterson AD, Sutcliffe JS, Szatmari P, Vieland VJ, Hakonarson H, Devlin B.

Hum Mol Genet. 2012 Nov 1;21(21):4781-92. doi: 10.1093/hmg/dds301. Epub 2012 Jul 26.

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