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Page 1
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. 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.
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome.
El Chehadeh-Djebbar S, Faivre L, Moncla A, Aral B, Missirian C, Popovici C, Rump P, Van Essen A, Frances AM, Gigot N, Cusin V, Masurel-Paulet A, Gueneau L, Payet M, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Balikova I, Teyssier JR, Mugneret F, Thauvin-Robinet C, Callier P. El Chehadeh-Djebbar S, et al. J Med Genet. 2011 Nov;48(11):e1. doi: 10.1136/jmg.2011.088948. Epub 2011 Feb 17. J Med Genet. 2011. PMID: 21330571 No abstract available.
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. 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
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
Thevenon J, Lopez E, Keren B, Heron D, Mignot C, Altuzarra C, Béri-Dexheimer M, Bonnet C, Magnin E, Burglen L, Minot D, Vigneron J, Morle S, Anheim M, Charles P, Brice A, Gallagher L, Amiel J, Haffen E, Mach C, Depienne C, Doummar D, Bonnet M, Duplomb L, Carmignac V, Callier P, Marle N, Mosca-Boidron AL, Roze V, Aral B, Razavi F, Jonveaux P, Faivre L, Thauvin-Robinet C. Thevenon J, et al. J Med Genet. 2012 Jun;49(6):400-8. doi: 10.1136/jmedgenet-2012-100856. J Med Genet. 2012. PMID: 22693284
Additional evidence to support the role of the 20q13.33 region in susceptibility to autism.
Mosca-Boidron AL, Valduga M, Thauvin-Robinet C, Lagarde N, Marle N, Henry C, Pinoit JM, Huet F, Béri-Deixheimer M, Ragon C, Gueneau L, Payet M, Callier P, Mugneret F, Jonveaux P, Faivre L. Mosca-Boidron AL, et al. Am J Med Genet A. 2013 Jun;161A(6):1505-7. doi: 10.1002/ajmg.a.35878. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613186 No abstract available.
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
Thevenon J, Callier P, Poquet H, Bache I, Menten B, Malan V, Cavaliere ML, Girod JP, Thauvin-Robinet C, El Chehadeh S, Pinoit JM, Huet F, Verges B, Petit JM, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Novelli A, Tümer Z, Loeys B, Lyonnet S, Faivre L. Thevenon J, et al. J Med Genet. 2014 Jan;51(1):21-7. doi: 10.1136/jmedgenet-2013-101939. Epub 2013 Oct 16. J Med Genet. 2014. PMID: 24133203
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
Thevenon J, Monnier N, Callier P, Dieterich K, Francoise M, Montgomery T, Kjaergaard S, Neas K, Dixon J, Dahm TL, Huet F, Ragon C, Mosca-Boidron AL, Marle N, Duplomb L, Aubriot-Lorton MH, Mugneret F, Vokes SA, Tucker HW, Lunardi J, Faivre L, Jouk PS, Thauvin-Robinet C. Thevenon J, et al. Am J Med Genet A. 2014 Dec;164A(12):3027-34. doi: 10.1002/ajmg.a.36751. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25258245
47 results