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2016

Vincent M, Genevieve D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, Coubes C, David A, Lyonnet S, Vilain C, et al: Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med 2016, 18:49-56.

 

Stoetzel C, Bar S, De Craene JO, Scheidecker S, Etard C, Chicher J, Reck JR, Perrault I, Geoffroy V, Chennen K, et al: A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi. Nat Commun 2016, 7:13586.

 

Schaefer E, Stoetzel C, Scheidecker S, Geoffroy V, Prasad MK, Redin C, Missotte I, Lacombe D, Mandel JL, Muller J, Dollfus H: Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome. J Hum Genet 2016.

 

Prasad MK, Laouina S, El Alloussi M, Dollfus H, Bloch-Zupan A: Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes. J Dent Res 2016, 95:1457-1463.

 

Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, Switala M, Gasse B, Laugel-Haushalter V, Paschaki M, et al: A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. J Med Genet 2016, 53:98-110.

 

Morice-Picard F, Lasseaux E, Plaisant C, Cailley D, Bouron J, Rooryck C, Lacombe D, Pelletier V, Lipsker D, Perdomo-Trujillo Y, et al: Albinism in a patient with mutations at both the OA1 and OCA3 loci. Pigment Cell Melanoma Res 2016, 29:107-109.

 

Miguet M, Thevenon J, Laugel V, Lefebvre M, Bourchany A, Riviere JB, Duffourd Y, Schaefer E, Antal MC, Abida R, et al: Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features. Prenat Diagn 2016, 36:1276-1279.

 

Gerber S, Alzayady KJ, Burglen L, Bremond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, et al: Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. Am J Hum Genet 2016, 98:971-980.

 

El Chehadeh S, Kerstjens-Frederikse WS, Thevenon J, Kuentz P, Bruel AL, Thauvin-Robinet C, Bensignor C, Dollfus H, Laugel V, Riviere JB, et al: Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. Eur J Hum Genet 2016, 25:43-51.

 

Dollfus H: [In Process Citation]. Med Sci (Paris) 2016, 32 Spec No 1:5-7.

 

Chassaing N, Davis EE, McKnight KL, Niederriter AR, Causse A, David V, Desmaison A, Lamarre S, Vincent-Delorme C, Pasquier L, et al: Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. Genome Res 2016, 26:474-485.

 

Calmels N, Greff G, Obringer C, Kempf N, Gasnier C, Tarabeux J, Miguet M, Baujat G, Bessis D, Bretones P, et al: Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. Orphanet J Rare Dis 2016, 11:26.

 

Buena-Atienza E, Ruther K, Baumann B, Bergholz R, Birch D, De Baere E, Dollfus H, Greally MT, Gustavsson P, Hamel CP, et al: De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy. Sci Rep 2016, 6:28253.

 

Braun JJ, Noblet V, Kremer S, Moliere S, Dollfus H, Marion V, Goetz N, Muller J, Riehm S: Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet-Biedl syndrome. Clin Genet 2016, 90:79-83.

 

Bloch-Zupan A, Huckert M, Stoetzel C, Meyer J, Geoffroy V, Razafindrakoto RW, Ralison SN, Randrianaivo JC, Ralison G, Andriamasinoro RO, et al: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar. Front Physiol 2016, 7:70.

 

Bloch-Zupan A, Huckert M, Stoetzel C, Meyer J, Geoffroy V, Razafindrakoto RW, Ralison SN, Randrianaivo JC, Ralison G, Andriamasinoro RO, et al: Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar. Front Physiol 2016, 7:304.

 

Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, et al: Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. PLoS One 2016, 11:e0153757.