Vous êtes ici

2013

Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuille M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, et al: Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 2013, 92:67-75.

 

Thauvin-Robinet C, Thomas S, Sinico M, Aral B, Burglen L, Gigot N, Dollfus H, Rossignol S, Raynaud M, Philippe C, et al: OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. Clin Genet 2013, 84:86-90.

 

Plaisancie J, Bailleul-Forestier I, Gaston V, Vaysse F, Lacombe D, Holder-Espinasse M, Abramowicz M, Coubes C, Plessis G, Faivre L, et al: Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. Am J Med Genet A 2013, 161A:671-678.

 

Manes G, Meunier I, Avila-Fernandez A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, et al: Mutations in IMPG1 cause vitelliform macular dystrophies. Am J Hum Genet 2013, 93:571-578.

 

Laugel V: Cockayne syndrome: the expanding clinical and mutational spectrum. Mech Ageing Dev 2013, 134:161-170.

 

Kristensen U, Epanchintsev A, Rauschendorf MA, Laugel V, Stevnsner T, Bohr VA, Coin F, Egly JM: Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress. Proc Natl Acad Sci U S A 2013, 110:E2261-2270.

 

Kaplan J, Perrault I, Hanein S, Dollfus H, Rozet JM: [Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy]. Med Sci (Paris) 2013, 29:26-27.

 

Frouin E, Laugel V, Durand M, Dollfus H, Lipsker D: Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome. JAMA Dermatol 2013, 149:1414-1418.

 

Fradin M, Merklen-Djafri C, Perrigouard C, Aral B, Muller J, Stoetzel C, Frouin E, Flori E, Doray B, Dollfus H, Lipsker D: Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder. Dermatology 2013, 226:353-357.

 

 Bocquet B, Lacroux A, Surget MO, Baudoin C, Marquette V, Manes G, Hebrard M, Senechal A, Delettre C, Roux AF, et al: Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management. Ophthalmic Epidemiol 2013, 20:13-25.

 

Bloch-Zupan A, Rousseaux M, Laugel V, Schmittbuhl M, Mathis R, Desforges E, Koob M, Zaloszyc A, Dollfus H, Laugel V: A possible cranio-oro-facial phenotype in Cockayne syndrome. Orphanet J Rare Dis 2013, 8:9.