Résultat de recherche

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

Isabelle Perrault, Patrick Nitschké, Arnold Munnich, Jean-Michel Rozet

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Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Isabelle Perrault, Sophie Saunier, Patrick Nitschké, Arnold Munnich, Corinne Antignac, Valérie Cormier-Daire, Jean-Michel Rozet

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TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.

Isabelle Perrault, Marlène Rio, Nathalie Boddaert, Agnès Rötig, Arnold Munnich, Jean-Michel Rozet

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Leber congenital amaurosis--genotyping required for possible inclusion in a clinical trial.

Isabelle Perrault, Jean-Michel Rozet, Arnold Munnich

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Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

Isabelle Perrault, Arnold Munnich, Jean-Michel Rozet

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Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.

Jérémie Rosain, Tom Le Voyer, Laura Polivka, Quentin Philippot, Lucy Bizien, Romain Levy, Soraya Boucherit, Anna-Lena Neehus, Mélanie Migaud, Capucine Picard , Claire Soudais, Shen-Ying Zhang, Nathalie Boddaert, Laurent Abel , Emmanuelle Jouanguy, Qian Zhang, Aurélie Cobat, Vivien Beziat, Bertrand Boisson, Julie STEFFANN, Jacinta Bustamante , Anne Puel, Paul Bastard, Jean-Laurent CASANOVA

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