Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

    Results: 1 to 20 of 56

    1.

    Implication of a rare deletion at distal 16p11.2 in schizophrenia.

    Guha S, Rees E, Darvasi A, Ivanov D, Ikeda M, Bergen SE, Magnusson PK, Cormican P, Morris D, Gill M, Cichon S, Rosenfeld JA, Lee A, Gregersen PK, Kane JM, Malhotra AK, Rietschel M, Nöthen MM, Degenhardt F, Priebe L, Breuer R, Strohmaier J, Ruderfer DM, Moran JL, Chambert KD, Sanders AR, Shi J, Kendler K, Riley B, O'Neill T, Walsh D, Malhotra D, Corvin A, Purcell S, Sklar P, Iwata N, Hultman CM, Sullivan PF, Sebat J, McCarthy S, Gejman PV, Levinson DF, Owen MJ, O'Donovan MC, Lencz T, Kirov G; Molecular Genetics of Schizophrenia Consortium; Wellcome Trust Case Control Consortium 2.

    JAMA Psychiatry. 2013 Mar;70(3):253-60. doi: 10.1001/2013.jamapsychiatry.71.

    PMID:
    23325106
    [PubMed - indexed for MEDLINE]
    2.

    A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

    Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium.

    J Med Genet. 2012 Oct;49(10):660-8. doi: 10.1136/jmedgenet-2012-101203.

    PMID:
    23054248
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    3.

    Microdeletions in 16p11.2 and 13q31.3 associated with developmental delay and generalized overgrowth.

    George AM, Taylor J, Love DR.

    Genet Mol Res. 2012 Sep 3;11(3):3133-7.

    PMID:
    23007991
    [PubMed - indexed for MEDLINE]
    Free Article
    4.

    Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.

    Laffin JJ, Raca G, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD.

    Genet Med. 2012 Nov;14(11):928-36. doi: 10.1038/gim.2012.72. Epub 2012 Jul 5.

    PMID:
    22766611
    [PubMed - indexed for MEDLINE]
    5.

    KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.

    Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, Jacquemont S, Reymond A, Sun M, Sawa A, Gusella JF, Kamiya A, Beckmann JS, Katsanis N.

    Nature. 2012 May 16;485(7398):363-7. doi: 10.1038/nature11091.

    PMID:
    22596160
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    6.

    ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion.

    Kino T, Pavlatou MG, Moraitis AG, Nemery RL, Raygada M, Stratakis CA.

    J Clin Endocrinol Metab. 2012 Aug;97(8):E1557-66. doi: 10.1210/jc.2011-3493. Epub 2012 May 10.

    PMID:
    22577170
    [PubMed - indexed for MEDLINE]
    7.

    Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes.

    Blaker-Lee A, Gupta S, McCammon JM, De Rienzo G, Sive H.

    Dis Model Mech. 2012 Nov;5(6):834-51. doi: 10.1242/dmm.009944. Epub 2012 May 1.

    PMID:
    22566537
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    8.

    Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.

    Simons Vip Consortium.

    Neuron. 2012 Mar 22;73(6):1063-7. doi: 10.1016/j.neuron.2012.02.014. Epub 2012 Mar 21.

    PMID:
    22445335
    [PubMed - indexed for MEDLINE]
    9.

    Association between copy number variants in 16p11.2 and major depressive disorder in a German case-control sample.

    Degenhardt F, Priebe L, Herms S, Mattheisen M, Mühleisen TW, Meier S, Moebus S, Strohmaier J, Groß M, Breuer R, Lange C, Hoffmann P, Meyer-Lindenberg A, Heinz A, Walter H, Lucae S, Wolf C, Müller-Myhsok B, Holsboer F, Maier W, Rietschel M, Nöthen MM, Cichon S.

    Am J Med Genet B Neuropsychiatr Genet. 2012 Apr;159B(3):263-73. doi: 10.1002/ajmg.b.32034. Epub 2012 Feb 17.

    PMID:
    22344817
    [PubMed - indexed for MEDLINE]
    10.

    Biologic tumor behavior in pilocytic astrocytomas.

    Belirgen M, Berrak SG, Ozdag H, Bozkurt SU, Eksioglu-Demiralp E, Ozek MM.

    Childs Nerv Syst. 2012 Mar;28(3):375-89. doi: 10.1007/s00381-011-1676-6. Epub 2012 Jan 14.

    PMID:
    22246337
    [PubMed - indexed for MEDLINE]
    11.

    Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.

    Tabet AC, Pilorge M, Delorme R, Amsellem F, Pinard JM, Leboyer M, Verloes A, Benzacken B, Betancur C.

    Eur J Hum Genet. 2012 May;20(5):540-6. doi: 10.1038/ejhg.2011.244. Epub 2012 Jan 11. Erratum in: Eur J Hum Genet. 2012 May;20(5):594.

    PMID:
    22234155
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    12.

    Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia.

    Grozeva D, Conrad DF, Barnes CP, Hurles M, Owen MJ, O'Donovan MC, Craddock N, Kirov G; WTCCC.

    Schizophr Res. 2012 Mar;135(1-3):1-7. doi: 10.1016/j.schres.2011.11.004. Epub 2011 Nov 29.

    PMID:
    22130109
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    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.

    PMID:
    22083728
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism.

    Horev G, Ellegood J, Lerch JP, Son YE, Muthuswamy L, Vogel H, Krieger AM, Buja A, Henkelman RM, Wigler M, Mills AA.

    Proc Natl Acad Sci U S A. 2011 Oct 11;108(41):17076-81. doi: 10.1073/pnas.1114042108. Epub 2011 Oct 3.

    PMID:
    21969575
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    15.

    Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion.

    Dale RC, Grattan-Smith P, Fung VS, Peters GB.

    Neurology. 2011 Oct 4;77(14):1401-2. doi: 10.1212/WNL.0b013e31823152d7. Epub 2011 Sep 21. No abstract available.

    PMID:
    21940615
    [PubMed - indexed for MEDLINE]
    16.

    Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity.

    Ciuladaitė Z, Kasnauskienė J, Cimbalistienė L, Preikšaitienė E, Patsalis PC, Kučinskas V.

    J Appl Genet. 2011 Nov;52(4):443-9. doi: 10.1007/s13353-011-0063-z. Epub 2011 Sep 20. No abstract available.

    PMID:
    21931978
    [PubMed - indexed for MEDLINE]
    17.

    Age- and gender-dependent obesity in individuals with 16p11.2 deletion.

    Yu Y, Zhu H, Miller DT, Gusella JF, Platt OS, Wu BL, Shen Y; Children's Hospital Boston Genotype Phenotype Study Group.

    J Genet Genomics. 2011 Sep 20;38(9):403-9. doi: 10.1016/j.jgg.2011.08.003. Epub 2011 Aug 17.

    PMID:
    21930099
    [PubMed - indexed for MEDLINE]
    18.

    Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

    Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdóttir U, Tinahones FJ, Touraine R, Vallée L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P.

    Nature. 2011 Aug 31;478(7367):97-102. doi: 10.1038/nature10406.

    PMID:
    21881559
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.

    Sahoo T, Theisen A, Rosenfeld JA, Lamb AN, Ravnan JB, Schultz RA, Torchia BS, Neill N, Casci I, Bejjani BA, Shaffer LG.

    Genet Med. 2011 Oct;13(10):868-80. doi: 10.1097/GIM.0b013e3182217a06.

    PMID:
    21792059
    [PubMed - indexed for MEDLINE]
    20.

    Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

    Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH Jr, Geschwind D, Roeder K, Devlin B, State MW.

    Neuron. 2011 Jun 9;70(5):863-85. doi: 10.1016/j.neuron.2011.05.002.

    PMID:
    21658581
    [PubMed - indexed for MEDLINE]

      Display Settings:

      Format
      Items per page
      Sort by

      Send to:

      Choose Destination

      Supplemental Content

      Find related data

      Search details

      See more...

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...
      Write to the Help Desk