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Items: 1 to 20 of 44

1.

Large recurrent microdeletions associated with schizophrenia.

Stefansson H, Rujescu D, Cichon S, Pietiläinen OP, Ingason A, Steinberg S, Fossdal R, Sigurdsson E, Sigmundsson T, Buizer-Voskamp JE, Hansen T, Jakobsen KD, Muglia P, Francks C, Matthews PM, Gylfason A, Halldorsson BV, Gudbjartsson D, Thorgeirsson TE, Sigurdsson A, Jonasdottir A, Jonasdottir A, Bjornsson A, Mattiasdottir S, Blondal T, Haraldsson M, Magnusdottir BB, Giegling I, Möller HJ, Hartmann A, Shianna KV, Ge D, Need AC, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Paunio T, Toulopoulou T, Bramon E, Di Forti M, Murray R, Ruggeri M, Vassos E, Tosato S, Walshe M, Li T, Vasilescu C, Mühleisen TW, Wang AG, Ullum H, Djurovic S, Melle I, Olesen J, Kiemeney LA, Franke B; GROUP, Sabatti C, Freimer NB, Gulcher JR, Thorsteinsdottir U, Kong A, Andreassen OA, Ophoff RA, Georgi A, Rietschel M, Werge T, Petursson H, Goldstein DB, Nöthen MM, Peltonen L, Collier DA, St Clair D, Stefansson K.

Nature. 2008 Sep 11;455(7210):232-6. doi: 10.1038/nature07229.

2.

Rare chromosomal deletions and duplications increase risk of schizophrenia.

International Schizophrenia Consortium.

Nature. 2008 Sep 11;455(7210):237-41. doi: 10.1038/nature07239. Epub 2008 Jul 30.

3.

Strong association of de novo copy number mutations with sporadic schizophrenia.

Xu B, Roos JL, Levy S, van Rensburg EJ, Gogos JA, Karayiorgou M.

Nat Genet. 2008 Jul;40(7):880-5. doi: 10.1038/ng.162. Epub 2008 May 30.

PMID:
18511947
4.

Genotype-phenotype correlations in MYCN-related Feingold syndrome.

Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP.

Hum Mutat. 2008 Sep;29(9):1125-32. doi: 10.1002/humu.20750.

PMID:
18470948
5.

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.

Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, Findling RL, Sikich L, Stromberg T, Merriman B, Gogtay N, Butler P, Eckstrand K, Noory L, Gochman P, Long R, Chen Z, Davis S, Baker C, Eichler EE, Meltzer PS, Nelson SF, Singleton AB, Lee MK, Rapoport JL, King MC, Sebat J.

Science. 2008 Apr 25;320(5875):539-43. doi: 10.1126/science.1155174. Epub 2008 Mar 27.

6.

Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1).

Kroepfl T, Petek E, Schwarzbraun T, Kroisel PM, Plecko B.

Clin Genet. 2008 May;73(5):492-5. doi: 10.1111/j.1399-0004.2008.00982.x. Epub 2008 Mar 12.

PMID:
18341605
7.

Structural variation of chromosomes in autism spectrum disorder.

Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicolson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW.

Am J Hum Genet. 2008 Feb;82(2):477-88. doi: 10.1016/j.ajhg.2007.12.009. Epub 2008 Jan 17.

8.

No significant association of 14 candidate genes with schizophrenia in a large European ancestry sample: implications for psychiatric genetics.

Sanders AR, Duan J, Levinson DF, Shi J, He D, Hou C, Burrell GJ, Rice JP, Nertney DA, Olincy A, Rozic P, Vinogradov S, Buccola NG, Mowry BJ, Freedman R, Amin F, Black DW, Silverman JM, Byerley WF, Crowe RR, Cloninger CR, Martinez M, Gejman PV.

Am J Psychiatry. 2008 Apr;165(4):497-506. doi: 10.1176/appi.ajp.2007.07101573. Epub 2008 Jan 15. Erratum in: Am J Psychiatry. 2008 Oct;165(10):1359.

PMID:
18198266
9.

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.

10.

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.

11.

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha.

Zahir FR, Baross A, Delaney AD, Eydoux P, Fernandes ND, Pugh T, Marra MA, Friedman JM.

J Med Genet. 2008 Apr;45(4):239-43. Epub 2007 Dec 5.

PMID:
18057082
12.

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.

Kirov G, Gumus D, Chen W, Norton N, Georgieva L, Sari M, O'Donovan MC, Erdogan F, Owen MJ, Ropers HH, Ullmann R.

Hum Mol Genet. 2008 Feb 1;17(3):458-65. Epub 2007 Nov 6.

PMID:
17989066
14.

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.

Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, Hakonarson H, Bucan M.

Genome Res. 2007 Nov;17(11):1665-74. Epub 2007 Oct 5.

15.

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.

Wagenstaller J, Spranger S, Lorenz-Depiereux B, Kazmierczak B, Nathrath M, Wahl D, Heye B, Glaser D, Liebscher V, Meitinger T, Strom TM.

Am J Hum Genet. 2007 Oct;81(4):768-79. Epub 2007 Aug 28.

16.

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
17.

The genetic deconstruction of psychosis.

Owen MJ, Craddock N, Jablensky A.

Schizophr Bull. 2007 Jul;33(4):905-11. Epub 2007 Jun 5. Review.

18.

Strong association of de novo copy number mutations with autism.

Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M.

Science. 2007 Apr 20;316(5823):445-9. Epub 2007 Mar 15.

19.
20.

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.

Colella S, Yau C, Taylor JM, Mirza G, Butler H, Clouston P, Bassett AS, Seller A, Holmes CC, Ragoussis J.

Nucleic Acids Res. 2007;35(6):2013-25. Epub 2007 Mar 6.

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