Publications and ressources

Identification of CANT1 mutations in Desbuquois dysplasia.

Céline Huber, Arnold Munnich, Valérie Cormier-Daire

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Identification of CANT1 mutations in Desbuquois dysplasia.

Céline Huber, Arnold Munnich, Valérie Cormier-Daire

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CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

Sophie Thomas, Jeanne Amiel, Nathalie Boddaert, Arnold Munnich, Sophie Saunier, Tania Attié-Bitach

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Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.

Jeanne Amiel

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Active cell movements coupled to positional induction are involved in lineage segregation in the mouse blastocyst.

Sigolène Meilhac

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Cerebral cortex development: From progenitors patterning to neocortical size during evolution.

Alessandra Pierani

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Landmarks and lineages in the developing heart.

Sigolène Meilhac

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FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function.

Frédéric Rieux-Laucat

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Transcription factor binding sites are genetic determinants of retroviral integration in the human genome.

Annarita Miccio

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Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

Stanislas Lyonnet, Sabina Benko, Jeanne Amiel, Sophie Thomas, Anna Pelet, Chris Gordon

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Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

Stanislas Lyonnet

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Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

Stanislas Lyonnet, emmanuel lefevre

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

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

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Human embryonic stem cells reveal recurrent genomic instability at 20q11.21.

Nathalie Lefort

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