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Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.
Laumonnier F, Holbert S, Ronce N, Faravelli F, Lenzner S, Schwartz CE, Lespinasse J, Van Esch H, Lacombe D, Goizet C, Phan-Dinh Tuy F, van Bokhoven H, Fryns JP, Chelly J, Ropers HH, Moraine C, Hamel BC, Briault S. Laumonnier F, et al. Among authors: holbert s. J Med Genet. 2005 Oct;42(10):780-6. doi: 10.1136/jmg.2004.029439. J Med Genet. 2005. PMID: 16199551 Free PMC article.
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation.
Laumonnier F, Roger S, Guérin P, Molinari F, M'rad R, Cahard D, Belhadj A, Halayem M, Persico AM, Elia M, Romano V, Holbert S, Andres C, Chaabouni H, Colleaux L, Constant J, Le Guennec JY, Briault S. Laumonnier F, et al. Among authors: holbert s. Am J Psychiatry. 2006 Sep;163(9):1622-9. doi: 10.1176/ajp.2006.163.9.1622. Am J Psychiatry. 2006. PMID: 16946189
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
Rivière JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA. Rivière JB, et al. Among authors: holbert s. Am J Hum Genet. 2011 Aug 12;89(2):219-30. doi: 10.1016/j.ajhg.2011.06.013. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820098 Free PMC article.
Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological disorders.
Néri C, Albanèse V, Lebre AS, Holbert S, Saada C, Bougueleret L, Meier-Ewert S, Le Gall I, Millasseau P, Bui H, Giudicelli C, Massart C, Guillou S, Gervy P, Poullier E, Rigault P, Weissenbach J, Lennon G, Chumakov I, Dausset J, Lehrach H, Cohen D, Cann HM. Néri C, et al. Among authors: holbert s. Hum Mol Genet. 1996 Jul;5(7):1001-9. doi: 10.1093/hmg/5.7.1001. Hum Mol Genet. 1996. PMID: 8817338
44 results