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2017

Ivanova EL, Mau-Them FT, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, de Saint Martin A, Runge K, Iqbal Z, Spitz M-A, Laura M, Drouot N, Gérard B, Deleuze J-F, de Brouwer APM, Razzaq A, Dollfus H, Assir MZ, Nitchké P, Hinckelmann M-V, Ropers H, Riazuddin S, Najmabadi H, van Bokhoven H, Chelly J. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. Am J Hum Genet 2017;101:428–40.

Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, Odent S, Jouk P-S, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue M-A, Goldenberg A, Héron D, Parent P, Touraine R, Layet V, Sanlaville D, Quélin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot A-M, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, Gilbert-Dussardier B. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. Am J Med Genet C Semin Med Genet 2017;175:417–30.

Nevers Y, Prasad MK, Poidevin L, Chennen K, Allot A, Kress A, Ripp R, Thompson JD, Dollfus H, Poch O, Lecompte O. Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling. Mol Biol Evol 2017;34:2016–34.

Tardieu C, Jung S, Niederreither K, Prasad M, Hadj-Rabia S, Philip N, Mallet A, Consolino E, Sfeir E, Noueiri B, et al: Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study. Clin Genet 2017.

 

Montaut S, Apartis E, Chanson JB, Ewenczyk C, Renaud M, Guissart C, Muller J, Legrand AP, Durr A, Laugel V, et al: SCA13 causes dominantly inherited non-progressive myoclonus ataxia. Parkinsonism Relat Disord 2017, 38:80-84.

 

Mary L, Scheidecker S, Kohler M, Lombardi MP, Delezoide AL, Auberger E, Triau S, Colin E, Gerard M, Grzeschik KH, et al: Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature. Am J Med Genet A 2017, 173:479-486.

 

Goussot R, Prasad M, Stoetzel C, Lenormand C, Dollfus H, Lipsker D: Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma. JAAD Case Rep 2017, 3:143-150.

 

Blin-Rochemaure N, Allani-Essid N, Carlier R, Laugel V, Quijano-Roy S: [The place of neuropathy in the early diagnosis of Cockayne syndrome: Report on two siblings]. Arch Pediatr 2017, 24:353-359.