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Items: 1 to 20 of 82

1.

Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort.

Valsesia A, Stevenson BJ, Waterworth D, Mooser V, Vollenweider P, Waeber G, Jongeneel CV, Beckmann JS, Kutalik Z, Bergmann S.

BMC Genomics. 2012 Jun 15;13:241. doi: 10.1186/1471-2164-13-241.

2.

Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.

Ricard G, Molina J, Chrast J, Gu W, Gheldof N, Pradervand S, Schütz F, Young JI, Lupski JR, Reymond A, Walz K.

PLoS Biol. 2010 Nov 23;8(11):e1000543. doi: 10.1371/journal.pbio.1000543.

3.

Body-mass index and mortality among 1.46 million white adults.

Berrington de Gonzalez A, Hartge P, Cerhan JR, Flint AJ, Hannan L, MacInnis RJ, Moore SC, Tobias GS, Anton-Culver H, Freeman LB, Beeson WL, Clipp SL, English DR, Folsom AR, Freedman DM, Giles G, Hakansson N, Henderson KD, Hoffman-Bolton J, Hoppin JA, Koenig KL, Lee IM, Linet MS, Park Y, Pocobelli G, Schatzkin A, Sesso HD, Weiderpass E, Willcox BJ, Wolk A, Zeleniuch-Jacquotte A, Willett WC, Thun MJ.

N Engl J Med. 2010 Dec 2;363(23):2211-9. doi: 10.1056/NEJMoa1000367. Erratum in: N Engl J Med. 2011 Sep 1;365(9):869.

4.

A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.

Wang K, Zhang H, Bloss CS, Duvvuri V, Kaye W, Schork NJ, Berrettini W, Hakonarson H; Price Foundation Collaborative Group.

Mol Psychiatry. 2011 Sep;16(9):949-59. doi: 10.1038/mp.2010.107. Epub 2010 Nov 16.

5.

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis.

Williams NM, Zaharieva I, Martin A, Langley K, Mantripragada K, Fossdal R, Stefansson H, Stefansson K, Magnusson P, Gudmundsson OO, Gustafsson O, Holmans P, Owen MJ, O'Donovan M, Thapar A.

Lancet. 2010 Oct 23;376(9750):1401-8. doi: 10.1016/S0140-6736(10)61109-9. Epub 2010 Sep 29.

6.

Phenotypic variability and genetic susceptibility to genomic disorders.

Girirajan S, Eichler EE.

Hum Mol Genet. 2010 Oct 15;19(R2):R176-87. doi: 10.1093/hmg/ddq366. Epub 2010 Aug 31. Review.

7.

Metabolic syndrome with the atypical antipsychotics.

Pramyothin P, Khaodhiar L.

Curr Opin Endocrinol Diabetes Obes. 2010 Oct;17(5):460-6. doi: 10.1097/MED.0b013e32833de61c. Review.

PMID:
20717020
8.

Obesity and insulin resistance-related changes in the expression of lipogenic and lipolytic genes in morbidly obese subjects.

Tinahones FJ, Garrido-Sanchez L, Miranda M, García-Almeida JM, Macias-Gonzalez M, Ceperuelo V, Gluckmann E, Rivas-Marin J, Vendrell J, García-Fuentes E.

Obes Surg. 2010 Nov;20(11):1559-67. doi: 10.1007/s11695-010-0194-z.

PMID:
20512427
9.

cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs.

Coin LJ, Asher JE, Walters RG, Moustafa JS, de Smith AJ, Sladek R, Balding DJ, Froguel P, Blakemore AI.

Nat Methods. 2010 Jul;7(7):541-6. doi: 10.1038/nmeth.1466. Epub 2010 May 30.

PMID:
20512141
10.

Cohort profile: the study of health in Pomerania.

Völzke H, Alte D, Schmidt CO, Radke D, Lorbeer R, Friedrich N, Aumann N, Lau K, Piontek M, Born G, Havemann C, Ittermann T, Schipf S, Haring R, Baumeister SE, Wallaschofski H, Nauck M, Frick S, Arnold A, Jünger M, Mayerle J, Kraft M, Lerch MM, Dörr M, Reffelmann T, Empen K, Felix SB, Obst A, Koch B, Gläser S, Ewert R, Fietze I, Penzel T, Dören M, Rathmann W, Haerting J, Hannemann M, Röpcke J, Schminke U, Jürgens C, Tost F, Rettig R, Kors JA, Ungerer S, Hegenscheid K, Kühn JP, Kühn J, Hosten N, Puls R, Henke J, Gloger O, Teumer A, Homuth G, Völker U, Schwahn C, Holtfreter B, Polzer I, Kohlmann T, Grabe HJ, Rosskopf D, Kroemer HK, Kocher T, Biffar R, John U, Hoffmann W.

Int J Epidemiol. 2011 Apr;40(2):294-307. doi: 10.1093/ije/dyp394. Epub 2010 Feb 18. No abstract available.

PMID:
20167617
11.

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chèvre JC, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset JM, Lemaitre MP, Ambresin AE, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N, Campion D, Guilmatre A, Goldenberg A, Calmels N, Mandel JL, Le Caignec C, David A, Isidor B, Cordier MP, Dupuis-Girod S, Labalme A, Sanlaville D, Béri-Dexheimer M, Jonveaux P, Leheup B, Ounap K, Bochukova EG, Henning E, Keogh J, Ellis RJ, Macdermot KD, van Haelst MM, Vincent-Delorme C, Plessis G, Touraine R, Philippe A, Malan V, Mathieu-Dramard M, Chiesa J, Blaumeiser B, Kooy RF, Caiazzo R, Pigeyre M, Balkau B, Sladek R, Bergmann S, Mooser V, Waterworth D, Reymond A, Vollenweider P, Waeber G, Kurg A, Palta P, Esko T, Metspalu A, Nelis M, Elliott P, Hartikainen AL, McCarthy MI, Peltonen L, Carlsson L, Jacobson P, Sjöström L, Huang N, Hurles ME, O'Rahilly S, Farooqi IS, Männik K, Jarvelin MR, Pattou F, Meyre D, Walley AJ, Coin LJ, Blakemore AI, Froguel P, Beckmann JS.

Nature. 2010 Feb 4;463(7281):671-5. doi: 10.1038/nature08727.

12.

Feeding and eating disorders in childhood.

Bryant-Waugh R, Markham L, Kreipe RE, Walsh BT.

Int J Eat Disord. 2010 Mar;43(2):98-111. doi: 10.1002/eat.20795. Review.

PMID:
20063374
13.

Eating disorders: the current status of molecular genetic research.

Scherag S, Hebebrand J, Hinney A.

Eur Child Adolesc Psychiatry. 2010 Mar;19(3):211-26. doi: 10.1007/s00787-009-0085-9. Epub 2009 Dec 24. Review.

14.

Large, rare chromosomal deletions associated with severe early-onset obesity.

Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, Saeed S, Hamilton-Shield J, Clayton-Smith J, O'Rahilly S, Hurles ME, Farooqi IS.

Nature. 2010 Feb 4;463(7281):666-70. doi: 10.1038/nature08689. Epub 2009 Dec 6.

15.

Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia.

Crespi B, Stead P, Elliot M.

Proc Natl Acad Sci U S A. 2010 Jan 26;107 Suppl 1:1736-41. doi: 10.1073/pnas.0906080106. Epub 2009 Dec 1. Review.

16.

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR.

J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12.

17.

Microduplications of 16p11.2 are associated with schizophrenia.

McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, Perkins DO, Dickel DE, Kusenda M, Krastoshevsky O, Krause V, Kumar RA, Grozeva D, Malhotra D, Walsh T, Zackai EH, Kaplan P, Ganesh J, Krantz ID, Spinner NB, Roccanova P, Bhandari A, Pavon K, Lakshmi B, Leotta A, Kendall J, Lee YH, Vacic V, Gary S, Iakoucheva LM, Crow TJ, Christian SL, Lieberman JA, Stroup TS, Lehtimäki T, Puura K, Haldeman-Englert C, Pearl J, Goodell M, Willour VL, Derosse P, Steele J, Kassem L, Wolff J, Chitkara N, McMahon FJ, Malhotra AK, Potash JB, Schulze TG, Nöthen MM, Cichon S, Rietschel M, Leibenluft E, Kustanovich V, Lajonchere CM, Sutcliffe JS, Skuse D, Gill M, Gallagher L, Mendell NR; Wellcome Trust Case Control Consortium, Craddock N, Owen MJ, O'Donovan MC, Shaikh TH, Susser E, Delisi LE, Sullivan PF, Deutsch CK, Rapoport J, Levy DL, King MC, Sebat J.

Nat Genet. 2009 Nov;41(11):1223-7. doi: 10.1038/ng.474. Epub 2009 Oct 25.

18.

Complement factor H is expressed in adipose tissue in association with insulin resistance.

Moreno-Navarrete JM, Martínez-Barricarte R, Catalán V, Sabater M, Gómez-Ambrosi J, Ortega FJ, Ricart W, Blüher M, Frühbeck G, Rodríguez de Cordoba S, Fernández-Real JM.

Diabetes. 2010 Jan;59(1):200-9. doi: 10.2337/db09-0700. Epub 2009 Oct 15.

19.

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW.

J Med Genet. 2010 Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15.

PMID:
19755429
20.

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, Layet V, Rosier A, Briault S, Bonnet-Brilhault F, Laumonnier F, Odent S, Le Vacon G, Joly-Helas G, David V, Bendavid C, Pinoit JM, Henry C, Impallomeni C, Germano E, Tortorella G, Di Rosa G, Barthelemy C, Andres C, Faivre L, Frébourg T, Saugier Veber P, Campion D.

Arch Gen Psychiatry. 2009 Sep;66(9):947-56. doi: 10.1001/archgenpsychiatry.2009.80. Review.

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