Works matching AU Houdayer, Claude

Results: 47

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Published in:

Frontiers in Oncology, 2018, p. 1, doi. 10.3389/fonc.2018.00490

By:

Lesueur, Fabienne;
Mebirouk, Noura;
Yue Jiao;
Barjhoux, Laure;
Belotti, Muriel;
Laurent, Maïté;
Léone, Mélanie;
Houdayer, Claude;
Paillerets, Brigitte Bressac-de;
Vaur, Dominique;
Sobol, Hagay;
Noguès, Catherine;
Longy, Michel;
Mortemousque, Isabelle;
Fert-Ferrer, Sandra;
Mouret-Fourme, Emmanuelle;
Pujol, Pascal;
Venat-Bouvet, Laurence;
Bignon, Yves-Jean;
Leroux, Dominique

Publication type:

Article

SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63648

By:

Vautier, Sabine;
Mauillon, Jacques;
Parodi, Nathalie;
Bou, Jacqueline;
Kasper, Edwige;
Manase, Sandrine;
Houdayer, Claude;
Baert‐Desurmont, Stéphanie

Publication type:

Article

First prenatal case of jumping-like translocations: unraveling complex chromosomal rearrangements.

Published in:

2025

By:

Cassinari, Kevin;
Brehin, Anne Claire;
Kundul, Ferdi;
Castelain, Mathieu;
Patrier-Sallebert, Sophie;
Diguet, Alain;
Verspyck, Eric;
Houdayer, Claude;
Joly-Hélas, Géraldine;
Chambon, Pascal

Publication type:

Case Study

First prenatal case of jumping-like translocations: unraveling complex chromosomal rearrangements.

Published in:

2025

By:

Cassinari, Kevin;
Brehin, Anne Claire;
Kundul, Ferdi;
Castelain, Mathieu;
Patrier-Sallebert, Sophie;
Diguet, Alain;
Verspyck, Eric;
Houdayer, Claude;
Joly-Hélas, Géraldine;
Chambon, Pascal

Publication type:

Case Study

Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma.

Published in:

2020

By:

Salviat, Flore;
Gauthier-Villars, Marion;
Carton, Matthieu;
Cassoux, Nathalie;
Lumbroso-Le Rouic, Livia;
Dehainault, Catherine;
Levy, Christine;
Golmard, Lisa;
Aerts, Isabelle;
Doz, François;
Bonnet-Serrano, Fidéline;
Hayek, Stéphanie;
Savignoni, Alexia;
Stoppa-Lyonnet, Dominique;
Houdayer, Claude

Publication type:

journal article

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

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 4, p. 535, doi. 10.1038/ejhg.2013.181

By:

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

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 460, doi. 10.1038/ejhg.2012.186

By:

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

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1471, doi. 10.1038/ejhg.2009.89

By:

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

Publication type:

Article

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 4, p. 473, doi. 10.1038/sj.ejhg.5201787

By:

Dehainault, Catherine;
Michaux, Dorothée;
Pagès-Berhouet, Sabine;
Caux-Moncoutier, Virginie;
Doz, François;
Desjardins, Laurence;
Couturier, Jérôme;
Parent, Philippe;
Stoppa-Lyonnet, Dominique;
Gauthier-Villars, Marion;
Houdayer, Claude

Publication type:

Article

Mutiple DICER1-related lesions associated with a germline deep intronic mutation.

Published in:

2018

By:

Verrier, Florian;
Dubois d'Enghien, Catherine;
Gauthier‐Villars, Marion;
Bonadona, Valérie;
Faure‐Conter, Cécile;
Dijoud, Frédérique;
Stoppa‐Lyonnet, Dominique;
Houdayer, Claude;
Golmard, Lisa;
Dubois d'Enghien, Catherine;
Gauthier-Villars, Marion;
Faure-Conter, Cécile;
Stoppa-Lyonnet, Dominique

Publication type:

journal article

Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome.

Published in:

2019

By:

Le Grignou, Marie;
Bleriot, Alice;
Nizon, Mathilde;
Pacquement, Hélène;
Houdayer, Claude;
Thebaud, Estelle;
Le Meur, Guylène;
Isidor, Bertrand

Publication type:

Letter to the Editor

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

Published in:

PLoS Genetics, 2016, v. 12, n. 6, p. 1, doi. 10.1371/journal.pgen.1006096

By:

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.

Publication type:

Article

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

Published in:

PLoS Genetics, 2016, v. 12, n. 2, p. 1, doi. 10.1371/journal.pgen.1005888

By:

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

Publication type:

Article

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0046-7

By:

Toland, Amanda Ewart;
Forman, Andrea;
Couch, Fergus J.;
Culver, Julie O.;
Eccles, Diana M.;
Foulkes, William D.;
Hogervorst, Frans B. L.;
Houdayer, Claude;
Levy-Lahad, Ephrat;
Monteiro, Alvaro N.;
Neuhausen, Susan L.;
Plon, Sharon E.;
Sharan, Shyam K.;
Spurdle, Amanda B.;
Szabo, Csilla;
Brody, Lawrence C.

Publication type:

Article

Mosaicism in clinical practice exemplified by prenatal diagnosis in retinoblastoma.

Published in:

Prenatal Diagnosis, 2011, v. 31, n. 11, p. 1106, doi. 10.1002/pd.2837

By:

Castéra, Laurent;
Gauthier-Villars, Marion;
Dehainault, Catherine;
Michaux, Dorothée;
Benachi, Alexandra;
Rouic, Livia Lumbroso-Le;
Stoppa-Lyonnet, Dominique;
Houdayer, Claude

Publication type:

Article

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

Published in:

Human Mutation, 2008, v. 29, n. 7, p. 975, doi. 10.1002/humu.20765

By:

Houdayer, Claude;
Dehainault, Catherine;
Mattler, Christophe;
Michaux, Dorothée;
Caux-Moncoutier, Virginie;
Pagès-Berhouet, Sabine;
d'Enghien, Catherine Dubois;
Laugé, Anthony;
Castera, Laurent;
Gauthier-Villars, Marion;
Stoppa-Lyonnet, Dominique

Publication type:

Article

Genotype-phenotype correlations in hereditary familial retinoblastoma.

Published in:

Human Mutation, 2007, v. 28, n. 3, p. 284, doi. 10.1002/humu.20443

By:

Taylor, Melissa;
Dehainault, Catherine;
Desjardins, Laurence;
Doz, François;
Levy, Christine;
Sastre, Xavier;
Couturier, Jérôme;
Stoppa-Lyonnet, Dominique;
Houdayer, Claude;
Gauthier-Villars, Marion

Publication type:

Article

Compound SFTPB 1549C→GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency.

Published in:

Human Mutation, 1999, v. 14, n. 6, p. 502, doi. 10.1002/(SICI)1098-1004(199912)14:6<502::AID-HUMU9>3.0.CO;2-C

By:

Tredano, Mohammed;
van Elburg, Ruurd M.;
Kaspers, Ageeth G.;
Zimmermann, Luc J.;
Houdayer, Claude;
Aymard, Pierre;
Hull, William M.;
Whitsett, Jeffrey A.;
Elion, Jacques;
Griese, Matthias;
Bahuau, Michel

Publication type:

Article

Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas.

Published in:

International Journal of Cancer, 2016, v. 138, n. 4, p. 891, doi. 10.1002/ijc.29829

By:

Manié, Elodie;
Popova, Tatiana;
Battistella, Aude;
Tarabeux, Julien;
Caux‐Moncoutier, Virginie;
Golmard, Lisa;
Smith, Nicholas K.;
Mueller, Christopher R.;
Mariani, Odette;
Sigal‐Zafrani, Brigitte;
Dubois, Thierry;
Vincent‐Salomon, Anne;
Houdayer, Claude;
Stoppa‐Lyonnet, Dominique;
Stern, Marc‐Henri

Publication type:

Article

Histo-genomic stratification reveals the frequent amplification/overexpression of CCNE 1 and BRD 4 genes in non-BRCAness high grade ovarian carcinoma.

Published in:

International Journal of Cancer, 2015, v. 137, n. 8, p. 1890, doi. 10.1002/ijc.29568

By:

Goundiam, Oumou;
Gestraud, Pierre;
Popova, Tatiana;
De la Motte Rouge, Thibault;
Fourchotte, Virginie;
Gentien, David;
Hupé, Philippe;
Becette, Véronique;
Houdayer, Claude;
Roman‐Roman, Sergio;
Stern, Marc‐Henri;
Sastre‐Garau, Xavier

Publication type:

Article

Mass-array screening of frequent mutations in cancers reveals RB1 alterations in aggressive adrenocortical carcinomas.

Published in:

European Journal of Endocrinology, 2014, v. 170, n. 3, p. 385, doi. 10.1530/EJE-13-0778

By:

Ragazzon, Bruno;
Libé, Rossella;
Assié, Guillaume;
Tissier, Frédérique;
Barreau, Olivia;
Houdayer, Claude;
Perlemoine, Karine;
Audebourg, Anne;
Clauser, Eric;
René-Corail, Fernande;
Bertagna, Xavier;
Dousset, Bertrand;
Bertherat, Jérôme;
Groussin, Lionel

Publication type:

Article

Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples.

Published in:

Clinical Chemistry, 2021, v. 67, n. 5, p. 736, doi. 10.1093/clinchem/hvaa323

By:

Cassinari, Ke´ vin;
Alessandri-Gradt, Elodie;
Chambon, Pascal;
Charbonnier, Franc¸oise;
Gracias, Se´ golè ne;
Beaussire, Ludivine;
Alexandre, Kevin;
Sarafan-Vasseur, Nasrin;
Houdayer, Claude;
Etienne, Manuel;
Caron, Franc¸ois;
Plantier, Jean Christophe;
Frebourg, Thierry

Publication type:

Article

New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients.

Published in:

Familial Cancer, 2025, v. 24, n. 1, p. 1, doi. 10.1007/s10689-025-00446-y

By:

Amiot, Julie;
Gubeljak, Lara;
Fontaine, Agathe;
Smith, Denis;
Mortemousque, Isabelle;
Parodi, Nathalie;
Mauillon, Jacques;
Kasper, Edwige;
Baert-Desurmont, Stéphanie;
Tinat, Julie;
Houdayer, Claude

Publication type:

Article

Detecting inversions in routine molecular diagnosis in MMR genes.

Published in:

Familial Cancer, 2022, v. 21, n. 4, p. 423, doi. 10.1007/s10689-021-00287-5

By:

Kasper, Edwige;
Coutant, Sophie;
Manase, Sandrine;
Vasseur, Stéphanie;
Macquère, Pierre;
Bougeard, Gaëlle;
Faivre, Laurence;
Ingster, Olivier;
Baert-Desurmont, Stéphanie;
Houdayer, Claude

Publication type:

Article

Lack of evidence for CDK12 as an ovarian cancer predisposing gene.

Published in:

Familial Cancer, 2020, v. 19, n. 3, p. 203, doi. 10.1007/s10689-020-00169-2

By:

Eeckhoutte, Alexandre;
Saint-Ghislain, Mathilde;
Reverdy, Manon;
Raynal, Virginie;
Baulande, Sylvain;
Bataillon, Guillaume;
Golmard, Lisa;
Stoppa-Lyonnet, Dominique;
Popova, Tatiana;
Houdayer, Claude;
Manié, Elodie;
Stern, Marc-Henri

Publication type:

Article

Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic <italic>MSH2</italic> somatic mutations.

Published in:

Familial Cancer, 2018, v. 17, n. 2, p. 281, doi. 10.1007/s10689-017-0032-8

By:

Buecher, Bruno;
De Pauw, Antoine;
Bazire, Louis;
Houdayer, Claude;
Fievet, Alice;
Moncoutier, Virginie;
Farkhondeh, Fereshteh;
Melaabi, Samia;
Lyonnet, Dominique Stoppa;
Golmard, Lisa

Publication type:

Article

Disequilibrium between BRCA1 and BRCA2 Circular and Messenger RNAs Plays a Role in Breast Cancer.

Published in:

Cancers, 2023, v. 15, n. 7, p. 2176, doi. 10.3390/cancers15072176

By:

Levacher, Corentin;
Viennot, Mathieu;
Drouet, Aurélie;
Beaussire, Ludivine;
Coutant, Sophie;
Théry, Jean-Christophe;
Baert-Desurmont, Stéphanie;
Laé, Marick;
Ruminy, Philippe;
Houdayer, Claude

Publication type:

Article

5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.

Published in:

Cancers, 2021, v. 13, n. 13, p. 3171, doi. 10.3390/cancers13133171

By:

Caputo, Sandrine M.;
Telly, Dominique;
Briaux, Adrien;
Sesen, Julie;
Ceppi, Maurizio;
Bonnet, Françoise;
Bourdon, Violaine;
Coulet, Florence;
Castera, Laurent;
Delnatte, Capucine;
Hardouin, Agnès;
Mazoyer, Sylvie;
Schultz, Inès;
Sevenet, Nicolas;
Uhrhammer, Nancy;
Bonnet, Céline;
Tilkin-Mariamé, Anne-Françoise;
Houdayer, Claude;
Moncoutier, Virginie;
Andrieu, Catherine

Publication type:

Article

Séquençage de nouvelle génération en génétique médicale Du génotype au phénotype, un défi majeur.

Published in:

Médecine Sciences, 2012, v. 28, n. 2, p. 123, doi. 10.1051/medsci/2012282001

By:

Stoppa-Lyonnet, Dominique;
Houdayer, Claude

Publication type:

Article

Germline mutation in the RAD51B gene confers predisposition to breast cancer.

Published in:

2013

By:

Golmard, Lisa;
Caux-Moncoutier, Virginie;
Davy, Grégoire;
Al Ageeli, Essam;
Poirot, Brigitte;
Tirapo, Carole;
Michaux, Dorothée;
Barbaroux, Catherine;
Dubois d'Enghien, Catherine;
Nicolas, André;
Castera, Laurent;
Sastre-Garau, Xavier;
Stern, Marc-Henri;
Houdayer, Claude;
Stoppa-Lyonnet, Dominique;
d'Enghien, Catherine Dubois;
Castéra, Laurent

Publication type:

journal article

High-throughput simultaneous detection of point mutations and large-scale rearrangements by CE.

Published in:

Electrophoresis, 2007, v. 28, n. 23, p. 4282, doi. 10.1002/elps.200700010

By:

Weber, Jérémie;
Miserere, Sandrine;
Champ, Jérôme;
Looten, Rachelle;
Stoppa-Lyonnet, Dominique;
Viovy, Jean-Louis;
Houdayer, Claude

Publication type:

Article

Improving sensitivity of electrophoretic heteroduplex analysis using nucleosides as additives: Application to the breast cancer predisposition gene BRCA2.

Published in:

Electrophoresis, 2006, v. 27, n. 8, p. 1444, doi. 10.1002/elps.200500797

By:

Jérémie Weber;
Rachelle Looten;
Claude Houdayer;
Dominique Stoppa-Lyonnet;
Jean-Louis Viovy

Publication type:

Article

Risk of Serous Endometrial Carcinoma in Women With Pathogenic BRCA1/2 Variant After Risk-Reducing Salpingo-Oophorectomy.

Published in:

JNCI: Journal of the National Cancer Institute, 2018, v. 110, n. 2, p. 1, doi. 10.1093/jnci/djx159

By:

Saule, Claire;
Mouret-Fourme, Emmanuelle;
Briaux, Adrien;
Becette, Véronique;
Rouzier, Roman;
Houdayer, Claude;
Stoppa-Lyonnet, Dominique

Publication type:

Article

MDM2 as a Modifier Gene in Retinoblastoma.

Published in:

JNCI: Journal of the National Cancer Institute, 2010, v. 102, n. 23, p. 1805, doi. 10.1093/jnci/djq416

By:

Castéra, Laurent;
Sabbagh, Audrey;
Dehainault, Catherine;
Michaux, Dorothée;
Mansuet-Lupo, Audrey;
Patillon, Blandine;
Lamar, Estelle;
Aerts, Isabelle;
Lumbroso-Le Rouic, Livia;
Couturier, Jérôme;
Stoppa-Lyonnet, Dominique;
Gauthier-Villars, Marion;
Houdayer, Claude

Publication type:

Article

Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas.

Published in:

Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0841-0

By:

Goldenberg, Alice;
Marguet, Florent;
Gilard, Vianney;
Cardine, Aude-Marie;
Hassani, Adnan;
Doz, François;
Radi, Sophie;
Vasseur, Stéphanie;
Bou, Jacqueline;
Branchaud, Maud;
Houdayer, Claude;
Baert-Desurmont, Stéphanie;
Laquerriere, Annie;
Frebourg, Thierry

Publication type:

Article

First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1856, doi. 10.1002/humu.23821

By:

Lin, Jin‐Huan;
Tang, Xin‐Ying;
Boulling, Arnaud;
Zou, Wen‐Bin;
Masson, Emmanuelle;
Fichou, Yann;
Raud, Loann;
Le Tertre, Marlène;
Deng, Shun‐Jiang;
Berlivet, Isabelle;
Ka, Chandran;
Mort, Matthew;
Hayden, Matthew;
Leman, Raphaël;
Houdayer, Claude;
Le Gac, Gerald;
Cooper, David N.;
Li, Zhao‐Shen;
Férec, Claude;
Liao, Zhuan

Publication type:

Article

BRCA Share: A Collection of Clinical BRCA Gene Variants.

Published in:

Human Mutation, 2016, v. 37, n. 12, p. 1318, doi. 10.1002/humu.23113

By:

Béroud, Christophe;
Letovsky, Stanley I.;
Braastad, Corey D.;
Caputo, Sandrine M.;
Beaudoux, Olivia;
Bignon, Yves Jean;
Paillerets, Brigitte;
Bronner, Myriam;
Buell, Crystal M.;
Collod‐Béroud, Gwenaëlle;
Coulet, Florence;
Derive, Nicolas;
Divincenzo, Christina;
Elzinga, Christopher D.;
Garrec, Céline;
Houdayer, Claude;
Karbassi, Izabela;
Lizard, Sarab;
Love, Angela;
Muller, Danièle

Publication type:

Article

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.

Published in:

Human Mutation, 2016, v. 37, n. 5, p. 488, doi. 10.1002/humu.22967

By:

Smith, Thomas;
Ho, Gladys;
Christodoulou, John;
Price, Elizabeth Ann;
Onadim, Zerrin;
Gauthier‐Villars, Marion;
Dehainault, Catherine;
Houdayer, Claude;
Parfait, Beatrice;
Minkelen, Rick;
Lohman, Dietmar;
Eyre‐Walker, Adam

Publication type:

Article

Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines.

Published in:

Human Mutation, 2013, v. 34, n. 10, p. 1424, doi. 10.1002/humu.22388

By:

Walker, Logan C.;
Whiley, Phillip J.;
Houdayer, Claude;
Hansen, Thomas V. O.;
Vega, Ana;
Santamarina, Marta;
Blanco, Ana;
Fachal, Laura;
Southey, Melissa C.;
Lafferty, Alan;
Colombo, Mara;
De Vecchi, Giovanna;
Radice, Paolo;
Spurdle, Amanda B.

Publication type:

Article

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/ in vitro studies on BRCA1 and BRCA2 variants.

Published in:

Human Mutation, 2012, v. 33, n. 8, p. 1228, doi. 10.1002/humu.22101

By:

Houdayer, Claude;
Caux-Moncoutier, Virginie;
Krieger, Sophie;
Barrois, Michel;
Bonnet, Françoise;
Bourdon, Violaine;
Bronner, Myriam;
Buisson, Monique;
Coulet, Florence;
Gaildrat, Pascaline;
Lefol, Cédrick;
Léone, Mélanie;
Mazoyer, Sylvie;
Muller, Danielle;
Remenieras, Audrey;
Révillion, Françoise;
Rouleau, Etienne;
Sokolowska, Joanna;
Vert, Jean-Philippe;
Lidereau, Rosette

Publication type:

Article

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.

Published in:

Human Mutation, 2011, v. 32, n. 3, p. 325, doi. 10.1002/humu.21414

By:

Caux-Moncoutier, Virginie;
Castéra, Laurent;
Tirapo, Carole;
Michaux, Dorothée;
Rémon, Marie-Alice;
Laugé, Anthony;
Rouleau, Etienne;
De Pauw, Antoine;
Buecher, Bruno;
Gauthier-Villars, Marion;
Viovy, Jean-Louis;
Stoppa-Lyonnet, Dominique;
Houdayer, Claude

Publication type:

Article

Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1‐related hereditary predisposition syndrome?

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.913

By:

Imbert‐Bouteille, Marion;
Gauthier‐Villars, Marion;
Leroux, Dominique;
Meunier, Isabelle;
Aerts, Isabelle;
Lumbroso‐Le Rouic, Livia;
Lejeune, Sophie;
Delnatte, Capucine;
Abadie, Caroline;
Pujol, Pascal;
Houdayer, Claude;
Corsini, Carole

Publication type:

Article

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification.

Published in:

Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01139

By:

Walker, Logan C.;
Lattimore, Vanessa Lilian;
Kvist, Anders;
Kleiblova, Petra;
Zemankova, Petra;
de Jong, Lucy;
Wiggins, George A. R.;
Hakkaart, Christopher;
Cree, Simone L.;
Behar, Raquel;
Houdayer, Claude;
Investigators, kConFab;
Parsons, Michael T.;
Kennedy, Martin A.;
Spurdle, Amanda B.;
de la Hoya, Miguel

Publication type:

Article

The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5243, doi. 10.1093/hmg/ddu245

By:

Dehainault, Catherine;
Garancher, Alexandra;
Castéra, Laurent;
Cassoux, Nathalie;
Aerts, Isabelle;
Doz, François;
Desjardins, Laurence;
Lumbroso, Livia;
Montes de Oca, Rocío;
Almouzni, Geneviève;
Stoppa-Lyonnet, Dominique;
Pouponnot, Celio;
Gauthier-Villars, Marion;
Houdayer, Claude

Publication type:

Article

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3666

By:

Colombo, Mara;
Blok, Marinus J.;
Whiley, Phillip;
Santamariña, Marta;
Gutiérrez-Enríquez, Sara;
Romero, Atocha;
Garre, Pilar;
Becker, Alexandra;
Smith, Lindsay Denise;
De Vecchi, Giovanna;
Brandão, Rita D.;
Tserpelis, Demis;
Brown, Melissa;
Blanco, Ana;
Bonache, Sandra;
Menéndez, Mireia;
Houdayer, Claude;
Foglia, Claudia;
Fackenthal, James D.;
Baralle, Diana

Publication type:

Article

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 14, p. 2886, doi. 10.1093/hmg/ddq174

By:

Wang, Xianshu;
Pankratz, V. Shane;
Fredericksen, Zachary;
Tarrell, Robert;
Karaus, Mary;
McGuffog, Lesley;
Pharaoh, Paul D.P.;
Ponder, Bruce A.J.;
Dunning, Alison M.;
Peock, Susan;
Cook, Margaret;
Oliver, Clare;
Frost, Debra;
Sinilnikova, Olga M.;
Stoppa-Lyonnet, Dominique;
Mazoyer, Sylvie;
Houdayer, Claude;
Hogervorst, Frans B.L.;
Hooning, Maartje J.;
Ligtenberg, Marjolijn J.

Publication type:

Article

Improved Fluorescent PCR-Based Assay for Sizing CGG Repeats at the FRAXA Locus.

Published in:

Clinical Chemistry & Laboratory Medicine, 1999, v. 37, n. 4, p. 397

By:

Houdayer, Claude;
Lemonnier, Alban;
Gerard, Marion;
Chauve, Corinne;
Tredano, Mohammed;
de Villemeur, Thierry Billette;
Aymard, Pierre;
Bonnefont, Jean-Paul;
Feldmann, Delphine

Publication type:

Article