Search Results - "Flament, Cathy"

Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation by Leclerc, Julie, Flament, Cathy, Lovecchio, Tonio, Delattre, Lucie, Ait Yahya, Emilie, Baert-Desurmont, Stéphanie, Burnichon, Nelly, Bronner, Myriam, Cabaret, Odile, Lejeune, Sophie, Guimbaud, Rosine, Morin, Gilles, Mauillon, Jacques, Jonveaux, Philippe, Laurent-Puig, Pierre, Frébourg, Thierry, Porchet, Nicole, Buisine, Marie-Pierre

“…Constitutional epimutations are an alternative to genetic mutations in the etiology of genetic diseases. Some of these epimutations, termed secondary,…”
Get full text

AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer by Leclerc, Julie, Beaumont, Marie, Vibert, Roseline, Pinson, Stéphane, Vermaut, Catherine, Flament, Cathy, Lovecchio, Tonio, Delattre, Lucie, Demay, Christophe, Coulet, Florence, Guillerm, Erell, Hamzaoui, Nadim, Benusiglio, Patrick R., Brahimi, Afane, Cornelis, François, Delhomelle, Hélène, Fert‐Ferrer, Sandra, Fournier, Benjamin P. J., Hovnanian, Alain, Legrand, Clémentine, Lortholary, Alain, Malka, David, Petit, Florence, Saurin, Jean‐Christophe, Lejeune, Sophie, Colas, Chrystelle, Buisine, Marie‐Pierre

“…Only a few patients with germline AXIN2 variants and colorectal adenomatous polyposis or cancer have been described, raising questions about the actual…”
Get full text

Familial adenomatous polyposis associated craniopharyngioma secondary to both germline and somatic mutations in the APC gene by Passos, Jeremy, Quidet, Mathilde, Brahimi, Afane, Flament, Cathy, Gibier, Jean-Baptiste, Caron, Sabine, Maurage, Claude-Alain, Buisine, Marie-Pierre, Perbet, Romain

Get full text