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195 results

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Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
Orrico A, Galli L, Faivre L, Clayton-Smith J, Azzarello-Burri SM, Hertz JM, Jacquemont S, Taurisano R, Arroyo Carrera I, Tarantino E, Devriendt K, Melis D, Thelle T, Meinhardt U, Sorrentino V. Orrico A, et al. Among authors: jacquemont s. Am J Med Genet A. 2010 Feb;152A(2):313-8. doi: 10.1002/ajmg.a.33199. Am J Med Genet A. 2010. PMID: 20082460
Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype.
Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Geneviéve D, Saunier P, Munnich A, Turleau C, Romana S, Prieur M, De Blois MC, Vekemans M. Faivre L, et al. Among authors: jacquemont s. J Med Genet. 2002 Aug;39(8):594-6. doi: 10.1136/jmg.39.8.594. J Med Genet. 2002. PMID: 12161602 Free PMC article. No abstract available.
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation.
Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA, Tassone F, Hessl D, Harris SW, Zhang L, Jardini T, Gane LW, Ferranti J, Ruiz L, Leehey MA, Grigsby J, Hagerman PJ. Hagerman RJ, et al. Among authors: jacquemont s. Am J Hum Genet. 2004 May;74(5):1051-6. doi: 10.1086/420700. Epub 2004 Apr 2. Am J Hum Genet. 2004. PMID: 15065016 Free PMC article.
Aging in individuals with the FMR1 mutation.
Jacquemont S, Farzin F, Hall D, Leehey M, Tassone F, Gane L, Zhang L, Grigsby J, Jardini T, Lewin F, Berry-Kravis E, Hagerman PJ, Hagerman RJ. Jacquemont S, et al. Am J Ment Retard. 2004 Mar;109(2):154-64. doi: 10.1352/0895-8017(2004)109<154:AIIWTF>2.0.CO;2. Am J Ment Retard. 2004. PMID: 15000674 Free PMC article.
The fragile X premutation presenting as essential tremor.
Leehey MA, Munhoz RP, Lang AE, Brunberg JA, Grigsby J, Greco C, Jacquemont S, Tassone F, Lozano AM, Hagerman PJ, Hagerman RJ. Leehey MA, et al. Among authors: jacquemont s. Arch Neurol. 2003 Jan;60(1):117-21. doi: 10.1001/archneur.60.1.117. Arch Neurol. 2003. PMID: 12533098
195 results