Publications and ressources

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

Caroline Michot, Stanislas Lyonnet, Arnold Munnich, Geneviève Baujat, Valérie Cormier-Daire

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Vacuolar ATPase is required for ERK-dependent wound healing in the Drosophila embryo.

Matias Simons

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Type I interferon-mediated autoinflammation due to DNase II deficiency.

Brigitte Bader-Meunier, Yanick Crow , Marie-Louise Frémond, Frédéric Rieux-Laucat, Luís Seabra, Bénédicte Neven, Pierre Quartier

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Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1).

Sven KRACKER, Marina Cavazzana, Alain Fischer

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Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21: A Randomized Clinical Trial.

Yves Ville

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Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.

Jean-Laurent CASANOVA

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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.

Johanne Dubail, Céline Huber, Jeanne Amiel, Arnold Munnich, Muriel de la Dure-Molla, Valérie Cormier-Daire, Chris Gordon

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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.

Johanne Dubail, Céline Huber, Jeanne Amiel, Arnold Munnich, Muriel de la Dure-Molla, Valérie Cormier-Daire, Chris Gordon

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Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome.

Bénédicte Neven

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Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

Marlène Rio, Sophie Thomas, Tania Attié-Bitach, Jean-Michel Rozet

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Epithelial barrier dysfunction in desmoglein-1 deficiency.

Laura Polivka, Elodie Bal, Marine Madrange, Damien Bonnet, Bénédicte Neven, Arnold Munnich, Jean-Laurent CASANOVA , Anne Puel, Asma Smahi

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Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

Isabelle Perrault, Marlène Rio, Sophie Thomas, Tania Attié-Bitach, Jean-Michel Rozet

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Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

Marlène Rio, Sophie Thomas, Tania Attié-Bitach, Jean-Michel Rozet

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Cortical developmental death: selected to survive or fated to die.

Alessandra Pierani, Frédéric Causeret

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Hemophagocytic syndrome: primary forms and predisposing conditions.

Fernando Sepulveda , Geneviève de Saint Basile

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