Vous êtes ici

2015

Timbolschi D, Schaefer E, Monga B, Fattori D, Dott B, Favre R, Kohler M, Nisand I, Viville B, Astruc D, et al: Neural tube defects: the experience of the registry of congenital malformations of Alsace, France, 1995-2009. Fetal Diagn Ther 2015, 37:6-17.

 

Scheidecker S, Hull S, Perdomo Y, Studer F, Pelletier V, Muller J, Stoetzel C, Schaefer E, Defoort-Dhellemmes S, Drumare I, et al: Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. Am J Ophthalmol 2015, 160:364-372 e361.

 

Scheidecker S, Etard C, Haren L, Stoetzel C, Hull S, Arno G, Plagnol V, Drunat S, Passemard S, Toutain A, et al: Mutations in TUBGCP4 alter microtubule organization via the gamma-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. Am J Hum Genet 2015, 96:666-674.

 

Sathya Priya C, Sen P, Umashankar V, Gupta N, Kabra M, Kumaramanickavel G, Stoetzel C, Dollfus H, Sripriya S: Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. Clin Genet 2015, 87:161-166.

 

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 2015.

 

Plaisancie J, Collet C, Pelletier V, Perdomo Y, Studer F, Fradin M, Schaefer E, Speeg-Schatz C, Bloch-Zupan A, Flori E, Dollfus H: MSX2 Gene Duplication in a Patient with Eye Development Defects. Ophthalmic Genet 2015, 36:353-358.

 

Moulinas C, Dollfus H, Lipsker D: [Leucoderma in children: Review of the literature]. Ann Dermatol Venereol 2015, 142:399-409.

 

Marshall JD, Muller J, Collin GB, Milan G, Kingsmore SF, Dinwiddie D, Farrow EG, Miller NA, Favaretto F, Maffei P, et al: Alstrom Syndrome: Mutation Spectrum of ALMS1. Hum Mutat 2015, 36:660-668.

 

Manes G, Guillaumie T, Vos WL, Devos A, Audo I, Zeitz C, Marquette V, Zanlonghi X, Defoort-Dhellemmes S, Puech B, et al: High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features. Am J Ophthalmol 2015, 159:302-314.

 

Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, et al: Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet 2015, 52:85-94.

 

Huckert M, Stoetzel C, Morkmued S, Laugel-Haushalter V, Geoffroy V, Muller J, Clauss F, Prasad MK, Obry F, Raymond JL, et al: Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. Hum Mol Genet 2015, 24:3038-3049.

 

Herenger Y, Stoetzel C, Schaefer E, Scheidecker S, Maniere MC, Pelletier V, Alembik Y, Christmann D, Clavert JM, Terzic J, et al: Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations. Eur J Med Genet 2015, 58:479-487.

 

Guissart C, Drouot N, Oncel I, Leheup B, Gershoni-Barush R, Muller J, Ferdinandusse S, Larrieu L, Anheim M, Arslan EA, et al: Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2). Eur J Hum Genet 2015.

 

Gitiaux C, Blin-Rochemaure N, Hully M, Echaniz-Laguna A, Calmels N, Bahi-Buisson N, Desguerre I, Dabaj I, Wehbi S, Quijano-Roy S, Laugel V: Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome. Clin Neurophysiol 2015, 126:1435-1439.

 

Geoffroy V, Pizot C, Redin C, Piton A, Vasli N, Stoetzel C, Blavier A, Laporte J, Muller J: VaRank: a simple and powerful tool for ranking genetic variants. PeerJ 2015, 3:e796.

 

Desguerre I, Laugel V: [Diagnosis and natural history of Duchenne muscular dystrophy]. Arch Pediatr 2015, 22:12S24-30.

 

Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, et al: Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A 2015, 167A:296-312.

 

 Cognard N, Scerbo MJ, Obringer C, Yu X, Costa F, Haser E, Le D, Stoetzel C, Roux MJ, Moulin B, et al: Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice. Cilia 2015, 4:10.

 

Chaussenot A, Rouzier C, Quere M, Plutino M, Ait-El-Mkadem S, Bannwarth S, Barth M, Dollfus H, Charles P, Nicolino M, et al: Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders. Clin Genet 2015, 87:430-439.

 

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 2015.