A guide to cancer genetics in clinical practice

Por Stoppa-Lyonnet, Dominique
Publicado em 2013

The biological effects and clinical implications of BRCA mutations: where do we go from here?

Por Stoppa-Lyonnet, Dominique
Publicado no Eur J Hum Genet (2016)

Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays

Por Popova, Tatiana, Manié, Elodie, Stoppa-Lyonnet, Dominique, Rigaill, Guillem, Barillot, Emmanuel, Stern, Marc Henri
Publicado em 2009

Spontaneous disclosure of BRCA1/2 genetic test results to employers: a French prospective study

Por Eisinger, François, Fabre, Roxane, Lasset, Christine, Stoppa-Lyonnet, Dominique, Julian-Reynier, Claire, Nogues, Catherine
Publicado em 2012

Hormone Replacement Therapy after Prophylactic Adnexectomy

Por This, Pascale, Salmon, Rémy J, Dolbeault, Sylvie, de la Rochefordière, Anne, Sigal-Zafrani, Brigitte, Stoppa-Lyonnet, Dominique
Publicado em 2005

PEL: an unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family history

Por Alarcon, Flora, Bourgain, Catherine, Gauthier-Villars, Marion, Planté-Bordeneuve, Violaine, Stoppa-Lyonnet, Dominique, Bonaïti-Pellié, Catherine
Publicado em 2009

Distinct BRCA1 Rearrangements Involving the BRCA1 Pseudogene Suggest the Existence of a Recombination Hot Spot

Por Puget, Nadine, Gad, Sophie, Perrin-Vidoz, Laure, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Lenoir, Gilbert M., Mazoyer, Sylvie
Publicado em 2002

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations

Por Jacquemin, Virginie, Rieunier, Guillaume, Jacob, Sandrine, Bellanger, Dorine, d'Enghien, Catherine Dubois, Laugé, Anthony, Stoppa-Lyonnet, Dominique, Stern, Marc-Henri
Publicado em 2012

Risk Estimation as a Decision-Making Tool for Genetic Analysis of the Breast Cancer Susceptibility Genes

Por Chang-Claude, Jenny, Becher, Heiko, Caligo, Maria, Eccles, Diana, Evans, Gareth, Haites, Neva, Hodgson, Shirley, Møller, Pål, Weber, Bernhard H. F., Stoppa-Lyonnet, Dominique
Publicado em 1999

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

Por Caux-Moncoutier, Virginie, Pagès-Berhouet, Sabine, Michaux, Dorothée, Asselain, Bernard, Castéra, Laurent, De Pauw, Antoine, Buecher, Bruno, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique, Houdayer, Claude
Publicado em 2009

First description of a sporadic breast cancer in a woman with BRCA1 germline mutation

Por Curtit, Elsa, Benhamo, Vanessa, Gruel, Nadège, Popova, Tatiana, Manie, Elodie, Cottu, Paul, Mariani, Odette, Stoppa-Lyonnet, Dominique, Pivot, Xavier, Stern, Marc-Henri, Vincent-Salomon, Anne
Publicado no Oncotarget (2015)

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

Por Dehainault, Catherine, Golmard, Lisa, Millot, Gaël A, Charpin, Agathe, Laugé, Anthony, Tarabeux, Julien, Aerts, Isabelle, Cassoux, Nathalie, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Houdayer, Claude
Publicado no Eur J Hum Genet (2017)

Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay

Por Castéra, Laurent, Dehainault, Catherine, Michaux, Dorothée, Lumbroso-Le Rouic, Livia, Aerts, Isabelle, Doz, Francois, Pelet, Anna, Couturier, Jérôme, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Houdayer, Claude
Publicado em 2013

Ethical, Social and Economic Issues in Familial Breast Cancer: A Compilation of Views from the E.C. Biomed II Demonstration Project

Por Steel, Michael, Smyth, Elizabeth, Vasen, Hans, Eccles, Diana, Evans, Gareth, Møller, Pål, Hodgson, Shirley, Stoppa-Lyonnet, Dominique, Chang-Claude, Jenny, Caligo, Maria, Morrison, Patrick, Haites, Neva
Publicado em 1999

A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1

Por Eloy, Philippine, Dehainault, Catherine, Sefta, Meriem, Aerts, Isabelle, Doz, François, Cassoux, Nathalie, Lumbroso le Rouic, Livia, Stoppa-Lyonnet, Dominique, Radvanyi, François, Millot, Gaël A., Gauthier-Villars, Marion, Houdayer, Claude
Publicado no PLoS Genet (2016)

Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making

Por Thouvenot, Pierre, Ben Yamin, Barbara, Fourrière, Lou, Lescure, Aurianne, Boudier, Thomas, Del Nery, Elaine, Chauchereau, Anne, Goldgar, David E., Houdayer, Claude, Stoppa-Lyonnet, Dominique, Nicolas, Alain, Millot, Gaël A.
Publicado no PLoS Genet (2016)

CAG repeat size in Huntingtin alleles is associated with cancer prognosis

Por Thion, Morgane Sonia, Tézenas du Montcel, Sophie, Golmard, Jean-Louis, Vacher, Sophie, Barjhoux, Laure, Sornin, Valérie, Cazeneuve, Cécile, Bièche, Ivan, Sinilnikova, Olga, Stoppa-Lyonnet, Dominique, Durr, Alexandra, Humbert, Sandrine
Publicado no Eur J Hum Genet (2016)

Diagnosis of Fanconi anemia in patients with bone marrow failure

Por Pinto, Fernando O., Leblanc, Thierry, Chamousset, Delphine, Le Roux, Gwenaelle, Brethon, Benoit, Cassinat, Bruno, Larghero, Jérôme, de Villartay, Jean-Pierre, Stoppa-Lyonnet, Dominique, Baruchel, André, Socié, Gérard, Gluckman, Eliane, Soulier, Jean
Publicado em 2009

ENIGMA - Evidence-based Network for the Interpretation of Germline Mutant Alleles: An international initiative to evaluate risk and clinical significance associated with sequence v...

Por Spurdle, Amanda B, Healey, Sue, Devereau, Andrew, Hogervorst, Frans BL, Monteiro, Alvaro NA, Nathanson, Katherine L, Radice, Paolo, Stoppa-Lyonnet, Dominique, Tavtigian, Sean, Wappenschmidt, Barbara, Couch, Fergus J, Goldgar, David E
Publicado em 2011

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model

Por Tarabeux, Julien, Zeitouni, Bruno, Moncoutier, Virginie, Tenreiro, Henrique, Abidallah, Khadija, Lair, Séverine, Legoix-Né, Patricia, Leroy, Quentin, Rouleau, Etienne, Golmard, Lisa, Barillot, Emmanuel, Stern, Marc-Henri, Rio-Frio, Thomas, Stoppa-Lyonnet, Dominique, Houdayer, Claude
Publicado em 2014