Search Results - "Coupier, I."

Links between gender norms and the intergenerational transmission of health information in parents carrying BRCA1/2 pathogenic variants by Gauna, F., Carof, S., Mouret‐Fourme, E., Coupier, I., Mari, V., Moretta‐Serra, J., Mancini, J., Noguès, C., Bouhnik, A. D.

“…Understanding how gender norms affect parents' communication of genetic and cancer risk information to their children can enable healthcare professionals to…”
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Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families by Kluger, N., Giraud, S., Coupier, I., Avril, M.-F., Dereure, O., Guillot, B., Richard, S., Bessis, D.

“…Summary Background  Birt–Hogg–Dubé syndrome (BHDS) is an autosomal dominant genodermatosis predisposing to the development of multiple fibrofolliculomas (FFs),…”
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Infant rhabdoid tumors: a diagnostic emergency by Marty, L, Cuinet, A, Roujeau, T, Prodhomme, O, Saumet, L, Coupier, I, Sirvent, N

“…Rhabdoid tumors are a heterogeneous family of aggressive tumors affecting young children. Their grouping within a single entity is recent, following the…”
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Genetic predisposition to childhood cancer by Abadie, C, Gauthier-Villars, M, Sirvent, N, Coupier, I

“…Tumor predisposition in children is rare, accounting for approximately 10% of all cancers in childhood. Tumor predisposition involves very rare tumors such as…”
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Acute lymphocytic leukaemia in a child with Beckwith–Wiedemann syndrome harbouring a CDKN1C mutation by Abadie, C, Bernard, F, Netchine, I, Sanlaville, D, Roque, A, Rossignol, S, Coupier, I

“…Abstract Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth syndrome associated with an increased risk in childhood tumours. The phenotypic variability in…”
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Cowden syndrome, or multiple hamartomatous tumor syndrome, in clinical endocrinology by Sardinoux, M, Raingeard, I, Bessis, D, Coupier, I, Renard, E, Bringer, J

“…Cowden syndrome (CS) is the prototypic PTEN hamartoma tumor syndromes (PHTS), rare clinical syndromes characterized by germline mutations of the tumor…”
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Tumeurs rhabdoïdes du nourrisson : une urgence diagnostique by Marty, L., Cuinet, A., Roujeau, T., Prodhomme, O., Saumet, L., Coupier, I., Sirvent, N.

“…Les tumeurs rhabdoïdes (TRh) composent une famille de tumeurs hétérogènes, d’une grande agressivité, survenant chez le jeune enfant. Leur regroupement au sein…”
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An unusual succinate dehydrogenase gene mutation C in a case of laryngeal paraganglioma by Garrel, R, Raynaud, P, Raingeard, I, Muyshondt, C, Gardiner, Q, Guerrier, B, Pujol, P, Coupier, I

“…To report a rare case of a laryngeal paraganglioma related to succinate dehydrogenase gene mutation C. A case report and a review of the world literature…”
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Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families by Gad, S, Klinger, M, Caux-Moncoutier, V, Pages-Berhouet, S, Gauthier-Villars, M, Coupier, I, Bensimon, A, Aurias, A, Stoppa-Lyonnet, D

“…5, 15 In the Dutch population, an even higher value is observed, owing to founder effects, since two deletions account for 36% of the alterations. 3 The lower…”
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Oncogénétique en oncopédiatrie by Abadie, C., Gauthier-Villars, M., Sirvent, N., Coupier, I.

“…Les prédispositions héréditaires aux cancers de l’enfant sont présentes chez environ 10 % des enfants atteints de tumeurs malignes. Ces prédispositions…”
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Le syndrome de Cowden ou syndrome des hamartomes multiples en endocrinologie clinique by Sardinoux, M, Raingeard, I, Bessis, D, Coupier, I, Renard, E, Bringer, J

“…Abstract Cowden syndrome (CS) is the prototypic PTEN hamartoma tumor syndromes (PHTS), rare clinical syndromes characterized by germline mutations of the tumor…”
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Prédispositions génétiques en oncologie pédiatrique by Bourdeaut, F., Coupier, I.

“…Résumé Les causes environnementales ayant une faible part à ce jour identifiée dans les cancers de l’enfant, le rôle de la prédisposition génétique est…”
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Corrélations génotype-phénotype dans la maladie de von hippel-lindau : vers un suivi adapté au profil génétique ? by Fodil-Cherif, S., Raingeard, I., Coupier, I., Pujol, P., Assenat, E., Renard, E.

“…Si l’on maîtrise mieux les corrélations génotype/phénotype dans la maladie de von Hippel-Lindau (VHL), ces connaissances sont peu utilisées en pratique…”
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Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours by Aury-Landas, Juliette, Bougeard, Gaëlle, Castel, Hélène, Hernandez-Vargas, Hector, Drouet, Aurélie, Latouche, Jean-Baptiste, Schouft, Marie-Thérèse, Férec, Claude, Leroux, Dominique, Lasset, Christine, Coupier, Isabelle, Caron, Olivier, Herceg, Zdenko, Frebourg, Thierry, Flaman, Jean-Michel

“…Germline alterations of the tumour suppressor TP53 gene are detected approximately in 25% of the families suggestive of Li-Fraumeni syndrome (LFS),…”
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BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis by Julian-Reynier, Claire, Fabre, Roxane, Coupier, Isabelle, Stoppa-Lyonnet, Dominique, Lasset, Christine, Caron, Olivier, Mouret-Fourme, Emmanuelle, Berthet, Pascaline, Faivre, Laurence, Frenay, Marc, Gesta, Paul, Gladieff, Laurence, Bouhnik, Anne-Deborah, Protière, Christel, Noguès, Catherine

“…Purpose: To assess the impact of BRCA1/2 test results on carriers’ reproductive decision-making and the factors determining their theoretical intentions about…”
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Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families: Birt-Hogg-Dubé syndrome in 10 French families by Kluger, N., Giraud, S., Coupier, I., Avril, M.-F., Dereure, O., Guillot, B., Richard, S., Bessis, D.

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BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis by Julian-Reynier, C., Fabre, R., Coupier, I., Stoppa-Lyonnet, Dominique, Lasset, Christine, Caron, O., Mouret-Fourme, E., Berthet, P., Faivre, L., Frenay, M., Gesta, P., Gladieff, L., Bouhnik, A-D., Protière, C., Noguès, C.

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Prédispositions héréditaires aux cancers gynécologiques by Coupier, I., Pujol, P.

“…Les cancers du sein, des ovaires et de l'endomètre sont héréditaires dans 5 à 10 % des cas. Ces prédispositions génétiques s'intègrent dans deux syndromes…”
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Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families by GAD, Sophie, CAUX-MONCOUTIER, Virginie, CHEVRIER, Annie, ROSSI, Annick, FRICKER, Jean-Pierre, TAN DAT NGUYEN, DEMANGE, Liliane, AURIAS, Alain, BENSIMON, Aaron, STOPPA-LYONNET, Dominique, PAGES-BERHOUET, Sabine, GAUTHIER-VILLARS, Marion, COUPIER, Isabelle, PUJOL, Pascal, FRENAY, Marc, GILBERT, Brigitte, MAUGARD, Christine, BIGNON, Yves-Jean

“…Genetic linkage data have shown that alterations of the BRCA1 gene are responsible for the majority of hereditary breast-ovarian cancers. However, BRCA1…”
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Impact of an information booklet on satisfaction and decision-making about BRCA genetic testing by Mancini, Julien, Noguès, Catherine, Adenis, Claude, Berthet, Pascaline, Bonadona, Valerie, Chompret, Agnès, Coupier, Isabelle, Eisinger, François, Fricker, Jean-Pierre, Gauthier-Villars, Marion, Lasset, Christine, Lortholary, Alain, N’Guyen, Tan Dat, Vennin, Philippe, Sobol, Hagay, Stoppa-Lyonnet, Dominique, Julian-Reynier, Claire

“…The aim of this study was to assess the impact of a standardized patient information booklet on decisions women make about genetic testing. This French…”
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