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Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S. Miguet M, et al. Among authors: jouk ps. J Med Genet. 2018 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4. J Med Genet. 2018. PMID: 29618507 Free article.
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk PS, Da Costa A, Prieur F, Bresson JL, Faivre L, Eicher JC, Chassaing N, Crehalet H, Porcher R, Rodriguez-Lafrasse C, Rousson R. Millat G, et al. Among authors: jouk ps. Eur J Med Genet. 2010 Sep-Oct;53(5):261-7. doi: 10.1016/j.ejmg.2010.07.007. Epub 2010 Jul 30. Eur J Med Genet. 2010. PMID: 20624503
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Dieterich K, Quijano-Roy S, Monnier N, Zhou J, Fauré J, Smirnow DA, Carlier R, Laroche C, Marcorelles P, Mercier S, Mégarbané A, Odent S, Romero N, Sternberg D, Marty I, Estournet B, Jouk PS, Melki J, Lunardi J. Dieterich K, et al. Among authors: jouk ps. Hum Mol Genet. 2013 Apr 15;22(8):1483-92. doi: 10.1093/hmg/dds514. Epub 2012 Dec 11. Hum Mol Genet. 2013. PMID: 23236030
Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population.
Coutton C, Abada F, Karaouzene T, Sanlaville D, Satre V, Lunardi J, Jouk PS, Arnoult C, Thierry-Mieg N, Ray PF. Coutton C, et al. Among authors: jouk ps. PLoS Genet. 2013 Mar;9(3):e1003363. doi: 10.1371/journal.pgen.1003363. Epub 2013 Mar 21. PLoS Genet. 2013. PMID: 23555282 Free PMC article.
142 results