Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 42

References for PMC Articles for PubMed (Select 22521361)

1.

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration.

Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RL, Snell RG, Hall IM, Shen Y, Ohsumi TK, Borowsky ML, Daly MJ, Lee C, Morton CC, MacDonald ME, Gusella JF, Talkowski ME.

Nat Genet. 2012 Mar 4;44(4):390-7, S1. doi: 10.1038/ng.2202.

2.

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

Kirov G, Pocklington AJ, Holmans P, Ivanov D, Ikeda M, Ruderfer D, Moran J, Chambert K, Toncheva D, Georgieva L, Grozeva D, Fjodorova M, Wollerton R, Rees E, Nikolov I, van de Lagemaat LN, Bayés A, Fernandez E, Olason PI, Böttcher Y, Komiyama NH, Collins MO, Choudhary J, Stefansson K, Stefansson H, Grant SG, Purcell S, Sklar P, O'Donovan MC, Owen MJ.

Mol Psychiatry. 2012 Feb;17(2):142-53. doi: 10.1038/mp.2011.154. Epub 2011 Nov 15.

3.

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH.

Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011.

4.

Genome-wide translocation sequencing reveals mechanisms of chromosome breaks and rearrangements in B cells.

Chiarle R, Zhang Y, Frock RL, Lewis SM, Molinie B, Ho YJ, Myers DR, Choi VW, Compagno M, Malkin DJ, Neuberg D, Monti S, Giallourakis CC, Gostissa M, Alt FW.

Cell. 2011 Sep 30;147(1):107-19. doi: 10.1016/j.cell.2011.07.049. Erratum in: Cell. 2011 Dec 23;147(7):1640.

5.

Translocation-capture sequencing reveals the extent and nature of chromosomal rearrangements in B lymphocytes.

Klein IA, Resch W, Jankovic M, Oliveira T, Yamane A, Nakahashi H, Di Virgilio M, Bothmer A, Nussenzweig A, Robbiani DF, Casellas R, Nussenzweig MC.

Cell. 2011 Sep 30;147(1):95-106. doi: 10.1016/j.cell.2011.07.048.

6.

A copy number variation morbidity map of developmental delay.

Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE.

Nat Genet. 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909. Erratum in: Nat Genet. 2014 Sep;46(9):1040.

7.

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE.

Nat Genet. 2011 Jun;43(6):585-9. doi: 10.1038/ng.835. Epub 2011 May 15. Erratum in: Nat Genet. 2012 Apr;44(4):471.

8.

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.

Talkowski ME, Ernst C, Heilbut A, Chiang C, Hanscom C, Lindgren A, Kirby A, Liu S, Muddukrishna B, Ohsumi TK, Shen Y, Borowsky M, Daly MJ, Morton CC, Gusella JF.

Am J Hum Genet. 2011 Apr 8;88(4):469-81. doi: 10.1016/j.ajhg.2011.03.013.

9.

Neurodevelopmental hypothesis of schizophrenia.

Owen MJ, O'Donovan MC, Thapar A, Craddock N.

Br J Psychiatry. 2011 Mar;198(3):173-5. doi: 10.1192/bjp.bp.110.084384.

10.

PDE10A inhibitors: novel therapeutic drugs for schizophrenia.

Kehler J, Nielsen J.

Curr Pharm Des. 2011;17(2):137-50. Review.

PMID:
21355834
11.

Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology.

Rossin EJ, Lage K, Raychaudhuri S, Xavier RJ, Tatar D, Benita Y; International Inflammatory Bowel Disease Genetics Constortium, Cotsapas C, Daly MJ.

PLoS Genet. 2011 Jan 13;7(1):e1001273. doi: 10.1371/journal.pgen.1001273.

12.

Massive genomic rearrangement acquired in a single catastrophic event during cancer development.

Stephens PJ, Greenman CD, Fu B, Yang F, Bignell GR, Mudie LJ, Pleasance ED, Lau KW, Beare D, Stebbings LA, McLaren S, Lin ML, McBride DJ, Varela I, Nik-Zainal S, Leroy C, Jia M, Menzies A, Butler AP, Teague JW, Quail MA, Burton J, Swerdlow H, Carter NP, Morsberger LA, Iacobuzio-Donahue C, Follows GA, Green AR, Flanagan AM, Stratton MR, Futreal PA, Campbell PJ.

Cell. 2011 Jan 7;144(1):27-40. doi: 10.1016/j.cell.2010.11.055.

13.

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

Franke A, McGovern DP, Barrett JC, Wang K, Radford-Smith GL, Ahmad T, Lees CW, Balschun T, Lee J, Roberts R, Anderson CA, Bis JC, Bumpstead S, Ellinghaus D, Festen EM, Georges M, Green T, Haritunians T, Jostins L, Latiano A, Mathew CG, Montgomery GW, Prescott NJ, Raychaudhuri S, Rotter JI, Schumm P, Sharma Y, Simms LA, Taylor KD, Whiteman D, Wijmenga C, Baldassano RN, Barclay M, Bayless TM, Brand S, Büning C, Cohen A, Colombel JF, Cottone M, Stronati L, Denson T, De Vos M, D'Inca R, Dubinsky M, Edwards C, Florin T, Franchimont D, Gearry R, Glas J, Van Gossum A, Guthery SL, Halfvarson J, Verspaget HW, Hugot JP, Karban A, Laukens D, Lawrance I, Lemann M, Levine A, Libioulle C, Louis E, Mowat C, Newman W, Panés J, Phillips A, Proctor DD, Regueiro M, Russell R, Rutgeerts P, Sanderson J, Sans M, Seibold F, Steinhart AH, Stokkers PC, Torkvist L, Kullak-Ublick G, Wilson D, Walters T, Targan SR, Brant SR, Rioux JD, D'Amato M, Weersma RK, Kugathasan S, Griffiths AM, Mansfield JC, Vermeire S, Duerr RH, Silverberg MS, Satsangi J, Schreiber S, Cho JH, Annese V, Hakonarson H, Daly MJ, Parkes M.

Nat Genet. 2010 Dec;42(12):1118-25. doi: 10.1038/ng.717.

14.

Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries.

Williams HJ, Craddock N, Russo G, Hamshere ML, Moskvina V, Dwyer S, Smith RL, Green E, Grozeva D, Holmans P, Owen MJ, O'Donovan MC.

Hum Mol Genet. 2011 Jan 15;20(2):387-91. doi: 10.1093/hmg/ddq471. Epub 2010 Oct 29.

15.

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K.

Nat Genet. 2010 Nov;42(11):1021-6. doi: 10.1038/ng.677. Epub 2010 Oct 3.

PMID:
20890276
16.

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.

Rosenfeld JA, Ballif BC, Torchia BS, Sahoo T, Ravnan JB, Schultz R, Lamb A, Bejjani BA, Shaffer LG.

Genet Med. 2010 Nov;12(11):694-702. doi: 10.1097/GIM.0b013e3181f0c5f3.

PMID:
20808228
17.

Psychosis susceptibility gene ZNF804A and cognitive performance in schizophrenia.

Walters JT, Corvin A, Owen MJ, Williams H, Dragovic M, Quinn EM, Judge R, Smith DJ, Norton N, Giegling I, Hartmann AM, Möller HJ, Muglia P, Moskvina V, Dwyer S, O'Donoghue T, Morar B, Cooper M, Chandler D, Jablensky A, Gill M, Kaladjieva L, Morris DW, O'Donovan MC, Rujescu D, Donohoe G.

Arch Gen Psychiatry. 2010 Jul;67(7):692-700. doi: 10.1001/archgenpsychiatry.2010.81.

PMID:
20603450
18.

Quantitative comparison of phosphodiesterase mRNA distribution in human brain and peripheral tissues.

Lakics V, Karran EH, Boess FG.

Neuropharmacology. 2010 Nov;59(6):367-74. doi: 10.1016/j.neuropharm.2010.05.004. Epub 2010 May 21. Erratum in: Neuropharmacology. 2013 Apr;67:532.

PMID:
20493887
19.

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.

Batsukh T, Pieper L, Koszucka AM, von Velsen N, Hoyer-Fender S, Elbracht M, Bergman JE, Hoefsloot LH, Pauli S.

Hum Mol Genet. 2010 Jul 15;19(14):2858-66. doi: 10.1093/hmg/ddq189. Epub 2010 May 7.

20.

TCF4, schizophrenia, and Pitt-Hopkins Syndrome.

Blake DJ, Forrest M, Chapman RM, Tinsley CL, O'Donovan MC, Owen MJ.

Schizophr Bull. 2010 May;36(3):443-7. doi: 10.1093/schbul/sbq035. Epub 2010 Apr 26.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk