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302 results

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Page 1
Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.
Masurel-Paulet A, Callier P, Thauvin-Robinet C, Chouchane M, Mejean N, Marle N, Mosca AL, Ben Salem D, Giroud M, Guibaud L, Huet F, Mugneret F, Faivre L. Masurel-Paulet A, et al. Among authors: huet f. Am J Med Genet A. 2009 Jul;149A(7):1504-10. doi: 10.1002/ajmg.a.32904. Am J Med Genet A. 2009. PMID: 19533778
Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene.
Thauvin-Robinet C, Callier P, Franco B, Zuffardi O, Payet M, Aral B, Gigot N, Donzel A, Mosca-Boidron AL, Masurel-Paulet A, Huet F, Teyssier JR, Mugneret F, Faivre L. Thauvin-Robinet C, et al. Among authors: huet f. Am J Med Genet A. 2009 Aug;149A(8):1846-9. doi: 10.1002/ajmg.a.32981. Am J Med Genet A. 2009. PMID: 19610098 No abstract available.
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
El Chehadeh S, Aral B, Gigot N, Thauvin-Robinet C, Donzel A, Delrue MA, Lacombe D, David A, Burglen L, Philip N, Moncla A, Cormier-Daire V, Rio M, Edery P, Verloes A, Bonneau D, Afenjar A, Jacquette A, Heron D, Sarda P, Pinson L, Doray B, Vigneron J, Leheup B, Frances-Guidet AM, Dienne G, Holder M, Masurel-Paulet A, Huet F, Teyssier JR, Faivre L. El Chehadeh S, et al. Among authors: huet f. J Med Genet. 2010 Aug;47(8):549-53. doi: 10.1136/jmg.2009.075028. J Med Genet. 2010. PMID: 20656880 Free article.
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.
Masurel-Paulet A, Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A, Kennedy D, Smith G, Khong TY, Solé G, Guerineau E, Coupry I, Huet F, Robertson S, Faivre L. Masurel-Paulet A, et al. Among authors: huet f. Eur J Med Genet. 2011 Jan-Feb;54(1):25-8. doi: 10.1016/j.ejmg.2010.09.010. Epub 2010 Oct 1. Eur J Med Genet. 2011. PMID: 20888935
17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.
El Chehadeh-Djebbar S, Callier P, Masurel-Paulet A, Bensignor C, Méjean N, Payet M, Ragon C, Durand C, Marle N, Mosca-Boidron AL, Huet F, Mugneret F, Faivre L, Thauvin-Robinet C. El Chehadeh-Djebbar S, et al. Among authors: huet f. Eur J Med Genet. 2011 May-Jun;54(3):369-73. doi: 10.1016/j.ejmg.2011.03.001. Epub 2011 Mar 30. Eur J Med Genet. 2011. PMID: 21397059
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
Lopez E, Callier P, Cormier-Daire V, Lacombe D, Moncla A, Bottani A, Lambert S, Goldenberg A, Doray B, Odent S, Sanlaville D, Gueneau L, Duplomb L, Huet F, Aral B, Thauvin-Robinet C, Faivre L. Lopez E, et al. Among authors: huet f. Am J Med Genet A. 2012 Feb;158A(2):333-9. doi: 10.1002/ajmg.a.34401. Epub 2012 Jan 13. Am J Med Genet A. 2012. PMID: 22247066
302 results