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648 results

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Page 1
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, Fallet-Bianco C, Pasquier L, Toutain A, Tuy FP, Bienvenu T, Joriot S, Odent S, Ville D, Desguerre I, Goldenberg A, Moutard ML, Fryns JP, van Esch H, Harvey RJ, Siebold C, Flint J, Beldjord C, Chelly J. Poirier K, et al. Among authors: flint j. Hum Mutat. 2007 Nov;28(11):1055-64. doi: 10.1002/humu.20572. Hum Mutat. 2007. PMID: 17584854
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
Jaglin XH, Poirier K, Saillour Y, Buhler E, Tian G, Bahi-Buisson N, Fallet-Bianco C, Phan-Dinh-Tuy F, Kong XP, Bomont P, Castelnau-Ptakhine L, Odent S, Loget P, Kossorotoff M, Snoeck I, Plessis G, Parent P, Beldjord C, Cardoso C, Represa A, Flint J, Keays DA, Cowan NJ, Chelly J. Jaglin XH, et al. Among authors: flint j. Nat Genet. 2009 Jun;41(6):746-52. doi: 10.1038/ng.380. Epub 2009 May 24. Nat Genet. 2009. PMID: 19465910 Free PMC article.
Tuba8 is expressed at low levels in the developing mouse and human brain.
Braun A, Breuss M, Salzer MC, Flint J, Cowan NJ, Keays DA. Braun A, et al. Among authors: flint j. Am J Hum Genet. 2010 May 14;86(5):819-22; author reply 822-3. doi: 10.1016/j.ajhg.2010.03.019. Am J Hum Genet. 2010. PMID: 20466094 Free PMC article. No abstract available.
New semidominant mutations that affect mouse development.
Bogani D, Warr N, Elms P, Davies J, Tymowska-Lalanne Z, Goldsworthy M, Cox RD, Keays DA, Flint J, Wilson V, Nolan P, Arkell R. Bogani D, et al. Among authors: flint j. Genesis. 2004 Oct;40(2):109-117. doi: 10.1002/gene.20071. Genesis. 2004. PMID: 15384171
Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.
Watkins-Chow DE, Cooke J, Pidsley R, Edwards A, Slotkin R, Leeds KE, Mullen R, Baxter LL, Campbell TG, Salzer MC, Biondini L, Gibney G, Phan Dinh Tuy F, Chelly J, Morris HD, Riegler J, Lythgoe MF, Arkell RM, Loreni F, Flint J, Pavan WJ, Keays DA. Watkins-Chow DE, et al. Among authors: flint j. PLoS Genet. 2013;9(1):e1003094. doi: 10.1371/journal.pgen.1003094. Epub 2013 Jan 31. PLoS Genet. 2013. PMID: 23382688 Free PMC article.
Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes.
Watkins-Chow DE, Cooke J, Pidsley R, Edwards A, Slotkin R, Leeds KE, Mullen R, Baxter LL, Campbell TG, Salzer MC, Biondini L, Gibney G, Tuy FP, Chelly J, Morris HD, Riegler J, Lythgoe MF, Arkell RM, Loreni F, Flint J, Pavan WJ, Keays DA. Watkins-Chow DE, et al. Among authors: flint j. PLoS Genet. 2015 Nov 19;11(11):e1005682. doi: 10.1371/journal.pgen.1005682. eCollection 2015 Nov. PLoS Genet. 2015. PMID: 26584186 Free PMC article. No abstract available.
648 results