Search Results - "Briand, Annaïg"

Mandibular dysostosis without microphthalmia caused by OTX2 deletion by Latypova, Xénia, Bordereau, Sylvain, Bleriot, Alice, Pichon, Olivier, Poulain, Damien, Briand, Annaïg, Le Caignec, Cédric, Isidor, Bertrand

“…Mutations in OTX2 are mostly identified in patients with anophthalmia/microphthalmia with variable severity. The OTX2 homeobox gene plays a crucial role in…”
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Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster by Le Caignec, Cédric, Pichon, Olivier, Briand, Annaig, de Courtivron, Benoît, Bonnard, Christian, Lindenbaum, Pierre, Redon, Richard, Schluth-Bolard, Caroline, Diguet, Flavie, Rollat-Farnier, Pierre-Antoine, Sanchez-Castro, Marta, Vuillaume, Marie-Laure, Sanlaville, Damien, Duboule, Denis, Mégarbané, André, Toutain, Annick

“…The HoxD cluster is critical for vertebrate limb development. Enhancers located in both the telomeric and centromeric gene deserts flanking the cluster…”
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Autosomal insertional translocation mimicking an X-linked mode of inheritance by Thierry, Gaelle, Pichon, Olivier, Briand, Annaig, Poulain, Damien, Sznajer, Yves, David, Albert, Le Caignec, Cédric

“…Abstract Unbalanced insertional translocations are a rare cause of intellectual disability. An unbalanced insertional translocation is a rare chromosomal…”
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Disruption of the SEMA3D Gene in a Patient with Congenital Heart Defects by Sanchez-Castro, Marta, Pichon, Olivier, Briand, Annaig, Poulain, Damien, Gournay, Véronique, David, Albert, Caignec, Cédric Le

“…ABSTRACT Congenital heart defect (CHD) is the leading malformation among newborns. However, its genetic basis remains mostly unknown. We report a child with…”
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Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas by Isidor, Bertrand, Bourdeaut, Franck, Lafon, Delfine, Plessis, Ghislaine, Lacaze, Elodie, Kannengiesser, Caroline, Rossignol, Sylvie, Pichon, Olivier, Briand, Annaig, Martin-Coignard, Dominique, Piccione, Maria, David, Albert, Delattre, Olivier, Jeanpierre, Cécile, Sévenet, Nicolas, Le Caignec, Cédric

“…Nephroblastoma (Wilms' tumor; WT) is the most common renal tumor of childhood. To date, several genetic abnormalities predisposing to WT have been identified…”
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De novo duplication and deletions at 7q in a three-generation family by Isidor, Bertrand, Villa, Olaya, Pichon, Olivier, Briand, Annaig, Poulain, Damien, Boisseau, Pierre, Pérez-Jurado, Luis Alberto, Le Caignec, Cédric

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