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2014

 Scheidecker S, Etard C, Pierce NW, Geoffroy V, Schaefer E, Muller J, Chennen K, Flori E, Pelletier V, Poch O, et al: Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J Med Genet 2014, 51:132-136.

 

Schaefer E, Minoux M, Lauer J, Pelletier V, Schmittbuhl M, Manière M-C, Clauss F, Veillon F, Riehm S, Stoetzel C, Dollfus H: A Novel Mutation Involving the Initiation Codon of FGF3 in a Family Described with Complete Inner Ear Agenesis, Microtia and Major Microdontia (LAMM Syndrome). Journal of Genetic Syndromes & Gene Therapy 2014, 5:1000251.

 

Schaefer E, Lauer J, Durand M, Pelletier V, Obringer C, Claussmann A, Braun JJ, Redin C, Mathis C, Muller J, et al: Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations. Clin Genet 2014, 85:476-481.

 

Redin C, Gerard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, et al: Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. J Med Genet 2014, 51:724-736.

 

M'Hamdi O, Redin C, Stoetzel C, Ouertani I, Chaabouni M, Maazoul F, M'Rad R, Mandel JL, Dollfus H, Muller J, Chaabouni H: Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. Clin Genet 2014, 85:172-177.

 

Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nurnberg G, Toliat MR, Murray JE, Hunt D, et al: Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat Genet 2014, 46:1283-1292.

 

Huckert M, Mecili H, Laugel-Haushalter V, Stoetzel C, Muller J, Flori E, Laugel V, Maniere MC, Dollfus H, Bloch-Zupan A: A Novel Mutation in the ROGDI Gene in a Patient with Kohlschutter-Tonz Syndrome. Mol Syndromol 2014, 5:293-298.

 

Gaertner S, Alembik Y, Cordeanu EM, Dollfus H, Lejay A, Chakfe N, Stephan D: Should we systematically screen for peripheral arterial aneurysms in all patients with Marfan syndrome? Int J Cardiol 2014, 172:e94-95.

 

de Saint-Martin A, Laugel V: [Epilepsy in the child and in the adult. Part 1. Epilepsy in the child]. Rev Prat 2014, 64:701-705.

 

 Curie A, Nazir T, Brun A, Paulignan Y, Reboul A, Delange K, Cheylus A, Bertrand S, Rochefort F, Bussy G, et al: The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia. Orphanet J Rare Dis 2014, 9:25.

 

Crow YJ, Zaki MS, Abdel-Hamid MS, Abdel-Salam G, Boespflug-Tanguy O, Cordeiro NJ, Gleeson JG, Gowrinathan NR, Laugel V, Renaldo F, et al: Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. Neuropediatrics 2014, 45:386-393.

 

 Cowling BS, Chevremont T, Prokic I, Kretz C, Ferry A, Coirault C, Koutsopoulos O, Laugel V, Romero NB, Laporte J: Reducing dynamin 2 expression rescues X-linked centronuclear myopathy. J Clin Invest 2014, 124:1350-1363.

 

Chennen K, Scerbo MJ, Dollfus H, Poch O, Marion V: [Bardet-Biedl syndrome: cilia and obesity - from genes to integrative approaches]. Med Sci (Paris) 2014, 30:1034-1039.

 

Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, Boespflug-Tanguy O, Boute-Benejean O, Dollfus H, Duban-Bedu B, Gilbert-Dussardier B, et al: Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. Clin Genet 2014, 86:326-334.

 

Braun JJ, Noblet V, Durand M, Scheidecker S, Zinetti-Bertschy A, Foucher J, Marion V, Muller J, Riehm S, Dollfus H, Kremer S: Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome. Clin Genet 2014, 86:521-529.

 

Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M, et al: The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family. Hum Mol Genet 2014, 23:491-501.