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Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
Zhao Y, Guo T, Fiksinski A, Breetvelt E, McDonald-McGinn DM, Crowley TB, Diacou A, Schneider M, Eliez S, Swillen A, Breckpot J, Vermeesch J, Chow EWC, Gothelf D, Duijff S, Evers R, van Amelsvoort TA, van den Bree M, Owen M, Niarchou M, Bearden CE, Ornstein C, Pontillo M, Buzzanca A, Vicari S, Armando M, Murphy KC, Murphy C, Garcia-Minaur S, Philip N, Campbell L, Morey-Cañellas J, Raventos J, Rosell J, Heine-Suner D, Shprintzen RJ, Gur RE, Zackai E, Emanuel BS, Wang T, Kates WR, Bassett AS, Vorstman JAS, Morrow BE; International 22q11.2 Brain and Behavior Consortium. Zhao Y, et al. Among authors: philip n. Am J Med Genet A. 2018 Oct;176(10):2172-2181. doi: 10.1002/ajmg.a.40359. Epub 2018 Oct 5. Am J Med Genet A. 2018. PMID: 30289625 Free PMC article.
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brøndum-Nielsen K, Scambler PJ, et al. Ryan AK, et al. Among authors: philip n. J Med Genet. 1997 Oct;34(10):798-804. doi: 10.1136/jmg.34.10.798. J Med Genet. 1997. PMID: 9350810 Free PMC article.
Further delineation of Kabuki syndrome in 48 well-defined new individuals.
Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Armstrong L, et al. Among authors: philip n. Am J Med Genet A. 2005 Jan 30;132A(3):265-72. doi: 10.1002/ajmg.a.30340. Am J Med Genet A. 2005. PMID: 15690370
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
Raux G, Bumsel E, Hecketsweiler B, van Amelsvoort T, Zinkstok J, Manouvrier-Hanu S, Fantini C, Brévière GM, Di Rosa G, Pustorino G, Vogels A, Swillen A, Legallic S, Bou J, Opolczynski G, Drouin-Garraud V, Lemarchand M, Philip N, Gérard-Desplanches A, Carlier M, Philippe A, Nolen MC, Heron D, Sarda P, Lacombe D, Coizet C, Alembik Y, Layet V, Afenjar A, Hannequin D, Demily C, Petit M, Thibaut F, Frebourg T, Campion D. Raux G, et al. Among authors: philip n. Hum Mol Genet. 2007 Jan 1;16(1):83-91. doi: 10.1093/hmg/ddl443. Epub 2006 Nov 29. Hum Mol Genet. 2007. PMID: 17135275
ZDHHC8 single nucleotide polymorphism rs175174 is not associated with psychiatric features of the 22q11 deletion syndrome or schizophrenia.
Demily C, Legallic S, Bou J, Houy-Durand E, Van Amelsvoort T, Zinkstok J, Manouvrier-Hanue S, Vogels A, Drouin-Garraud V, Philip N, Philippe A, Héron D, Sarda P, Petit M, Thibaut F, Frébourg T, Campion D. Demily C, et al. Among authors: philip n. Psychiatr Genet. 2007 Oct;17(5):311-2. doi: 10.1097/YPG.0b013e328133f369. Psychiatr Genet. 2007. PMID: 17728672 No abstract available.
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.
Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K. Thienpont B, et al. Among authors: philip n. J Med Genet. 2010 Mar;47(3):155-61. doi: 10.1136/jmg.2009.070573. Epub 2009 Oct 14. J Med Genet. 2010. PMID: 19833603
587 results