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Page 1
Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis.
de Kovel CG, Pinto D, Tauer U, Lorenz S, Muhle H, Leu C, Neubauer BA, Hempelmann A, Callenbach PM, Scheffer IE, Berkovic SF, Rudolf G, Striano P, Siren A, Baykan B, Sander T, Lindhout D, Kasteleijn-Nolst Trenité DG, Stephani U, Koeleman BP. de Kovel CG, et al. Among authors: pinto d. Epilepsy Res. 2010 May;89(2-3):286-94. doi: 10.1016/j.eplepsyres.2010.01.013. Epub 2010 Feb 12. Epilepsy Res. 2010. PMID: 20153606
Gene symbol: KCNQ2. Disease: Benign neonatal familial convulsion.
Pinto D, de Haan GJ, Carton D, Bader A, Witte J, Peters E, van Erp MG, Vandereyken W, Boezeman EH, Boon P, Halley DJ, Koeleman BP, Lindhout D. Pinto D, et al. Hum Genet. 2005 Jul;117(2-3):300. Hum Genet. 2005. PMID: 16156031 No abstract available.
A genome-wide association study of anorexia nervosa.
Boraska V, Franklin CS, Floyd JA, Thornton LM, Huckins LM, Southam L, Rayner NW, Tachmazidou I, Klump KL, Treasure J, Lewis CM, Schmidt U, Tozzi F, Kiezebrink K, Hebebrand J, Gorwood P, Adan RA, Kas MJ, Favaro A, Santonastaso P, Fernández-Aranda F, Gratacos M, Rybakowski F, Dmitrzak-Weglarz M, Kaprio J, Keski-Rahkonen A, Raevuori A, Van Furth EF, Slof-Op 't Landt MC, Hudson JI, Reichborn-Kjennerud T, Knudsen GP, Monteleone P, Kaplan AS, Karwautz A, Hakonarson H, Berrettini WH, Guo Y, Li D, Schork NJ, Komaki G, Ando T, Inoko H, Esko T, Fischer K, Männik K, Metspalu A, Baker JH, Cone RD, Dackor J, DeSocio JE, Hilliard CE, O'Toole JK, Pantel J, Szatkiewicz JP, Taico C, Zerwas S, Trace SE, Davis OS, Helder S, Bühren K, Burghardt R, de Zwaan M, Egberts K, Ehrlich S, Herpertz-Dahlmann B, Herzog W, Imgart H, Scherag A, Scherag S, Zipfel S, Boni C, Ramoz N, Versini A, Brandys MK, Danner UN, de Kovel C, Hendriks J, Koeleman BP, Ophoff RA, Strengman E, van Elburg AA, Bruson A, Clementi M, Degortes D, Forzan M, Tenconi E, Docampo E, Escaramís G, Jiménez-Murcia S, Lissowska J, Rajewski A, Szeszenia-Dabrowska N, Slopien A, Hauser J, Karhunen L, Meulenbelt I, Slagboom PE, Tortorella A, Maj M, D… See abstract for full author list ➔ Boraska V, et al. Among authors: pinto d. Mol Psychiatry. 2014 Oct;19(10):1085-94. doi: 10.1038/mp.2013.187. Epub 2014 Feb 11. Mol Psychiatry. 2014. PMID: 24514567 Free PMC article.
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.
Pagnamenta AT, Khan H, Walker S, Gerrelli D, Wing K, Bonaglia MC, Giorda R, Berney T, Mani E, Molteni M, Pinto D, Le Couteur A, Hallmayer J, Sutcliffe JS, Szatmari P, Paterson AD, Scherer SW, Vieland VJ, Monaco AP. Pagnamenta AT, et al. Among authors: pinto d. J Med Genet. 2011 Jan;48(1):48-54. doi: 10.1136/jmg.2010.079426. Epub 2010 Oct 23. J Med Genet. 2011. PMID: 20972252 Free PMC article.
Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.
Anney RJ, Kenny EM, O'Dushlaine C, Yaspan BL, Parkhomenka E, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L; Autism Genome Project; Buxbaum JD, Sutcliffe J, Gill M, Gallagher L. Anney RJ, et al. Eur J Hum Genet. 2011 Oct;19(10):1082-9. doi: 10.1038/ejhg.2011.75. Epub 2011 Apr 27. Eur J Hum Genet. 2011. PMID: 21522181 Free PMC article.
A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.
Oei L, Hsu YH, Styrkarsdottir U, Eussen BH, de Klein A, Peters MJ, Halldorsson B, Liu CT, Alonso N, Kaptoge SK, Thorleifsson G, Hallmans G, Hocking LJ, Husted LB, Jameson KA, Kruk M, Lewis JR, Patel MS, Scollen S, Svensson O, Trompet S, van Schoor NM, Zhu K, Buckley BM, Cooper C, Ford I, Goltzman D, González-Macías J, Langdahl BL, Leslie WD, Lips P, Lorenc RS, Olmos JM, Pettersson-Kymmer U, Reid DM, Riancho JA, Slagboom PE, Garcia-Ibarbia C, Ingvarsson T, Johannsdottir H, Luben R, Medina-Gómez C, Arp P, Nandakumar K, Palsson ST, Sigurdsson G, van Meurs JB, Zhou Y, Hofman A, Jukema JW, Pols HA, Prince RL, Cupples LA, Marshall CR, Pinto D, Sato D, Scherer SW, Reeve J, Thorsteinsdottir U, Karasik D, Richards JB, Stefansson K, Uitterlinden AG, Ralston SH, Ioannidis JP, Kiel DP, Rivadeneira F, Estrada K. Oei L, et al. Among authors: pinto d. J Med Genet. 2014 Feb;51(2):122-31. doi: 10.1136/jmedgenet-2013-102064. Epub 2013 Dec 16. J Med Genet. 2014. PMID: 24343915
Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors.
Mullins N, Kang J, Campos AI, Coleman JRI, Edwards AC, Galfalvy H, Levey DF, Lori A, Shabalin A, Starnawska A, Su MH, Watson HJ, Adams M, Awasthi S, Gandal M, Hafferty JD, Hishimoto A, Kim M, Okazaki S, Otsuka I, Ripke S, Ware EB, Bergen AW, Berrettini WH, Bohus M, Brandt H, Chang X, Chen WJ, Chen HC, Crawford S, Crow S, DiBlasi E, Duriez P, Fernández-Aranda F, Fichter MM, Gallinger S, Glatt SJ, Gorwood P, Guo Y, Hakonarson H, Halmi KA, Hwu HG, Jain S, Jamain S, Jiménez-Murcia S, Johnson C, Kaplan AS, Kaye WH, Keel PK, Kennedy JL, Klump KL, Li D, Liao SC, Lieb K, Lilenfeld L, Liu CM, Magistretti PJ, Marshall CR, Mitchell JE, Monson ET, Myers RM, Pinto D, Powers A, Ramoz N, Roepke S, Rozanov V, Scherer SW, Schmahl C, Sokolowski M, Strober M, Thornton LM, Treasure J, Tsuang MT, Witt SH, Woodside DB, Yilmaz Z, Zillich L, Adolfsson R, Agartz I, Air TM, Alda M, Alfredsson L, Andreassen OA, Anjorin A, Appadurai V, Soler Artigas M, Van der Auwera S, Azevedo MH, Bass N, Bau CHD, Baune BT, Bellivier F, Berger K, Biernacka JM, Bigdeli TB, Binder EB, Boehnke M, Boks MP, Bosch R, Braff DL, Bryant R, Budde M, Byrne EM, Cahn W, Casas M, Castelao E, Cervilla JA, Chaumette B, Cichon S, Cor… See abstract for full author list ➔ Mullins N, et al. Among authors: pinto d. Biol Psychiatry. 2022 Feb 1;91(3):313-327. doi: 10.1016/j.biopsych.2021.05.029. Epub 2021 Sep 9. Biol Psychiatry. 2022. PMID: 34861974 Free PMC article.
Gene and miRNA expression profiles in autism spectrum disorders.
Ghahramani Seno MM, Hu P, Gwadry FG, Pinto D, Marshall CR, Casallo G, Scherer SW. Ghahramani Seno MM, et al. Among authors: pinto d. Brain Res. 2011 Mar 22;1380:85-97. doi: 10.1016/j.brainres.2010.09.046. Epub 2010 Sep 21. Brain Res. 2011. PMID: 20868653
Individual common variants exert weak effects on the risk for autism spectrum disorders.
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 … See abstract for full author list ➔ Anney R, et al. Among authors: pinto d. Hum Mol Genet. 2012 Nov 1;21(21):4781-92. doi: 10.1093/hmg/dds301. Epub 2012 Jul 26. Hum Mol Genet. 2012. PMID: 22843504 Free PMC article.
1,400 results