Works by Giraud, Sophie

Results: 56

Hemorrhagic Hereditary Telangiectasia (Rendu-Osler Disease) and Infectious Diseases: An Underestimated Association.

Published in:

Clinical Infectious Diseases, 2007, v. 44, n. 6, p. 841, doi. 10.1086/511645

By:

Dupuis-Girod, Sophie;
Giraud, Sophie;
Decullier, Evelyne;
Lesca, Gaetan;
Cottin, Vincent;
Faure, Frédéric;
Merrot, Olivier;
Saurin, Jean-Christophe;
Cordier, Jean-François;
Plauchu, Henri

Publication type:

Article

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.

Published in:

2020

By:

Giraud, Sophie;
Bardel, Claire;
Dupuis-Girod, Sophie;
Carette, Marie-France;
Gilbert-Dussardier, Brigitte;
Riviere, Sophie;
Saurin, Jean-Christophe;
Eyries, Mélanie;
Patri, Sylvie;
Decullier, Evelyne;
Calender, Alain;
Lesca, Gaëtan

Publication type:

journal article

Supratentorial Hemangioblastoma in the Neonatal Period.

Published in:

Pediatric Neurosurgery, 2009, v. 45, n. 2, p. 155, doi. 10.1159/000209656

By:

Peyre, Matthieu;
Di Rocco, Federico;
Varlet, Pascale;
Giraud, Sophie;
Richard, Stéphane;
Sainte-Rose, Christian;
Puget, Stéphanie

Publication type:

Article

VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1149, doi. 10.1038/ejhg.2013.279

By:

Coppin, Lucie;
Grutzmacher, Claudine;
Crépin, Michel;
Destailleur, Evelyne;
Giraud, Sophie;
Cardot-Bauters, Catherine;
Porchet, Nicole;
Pigny, Pascal

Publication type:

Article

Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 6, p. 742, doi. 10.1038/ejhg.2008.3

By:

Lesca, Gaetan;
Genin, Emmanuelle;
Blachier, Claire;
Olivieri, Carla;
Coulet, Florence;
Brunet, Guy;
Dupuis-Girod, Sophie;
Buscarini, Elisabetta;
Soubrier, Florent;
Calender, Alain;
Danesino, Cesare;
Giraud, Sophie;
Plauchu, Henri

Publication type:

Article

A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers.

Published in:

2021

By:

Jiao, Yue;
Lesueur, Fabienne;
Azencott, Chloé-Agathe;
Laurent, Maïté;
Mebirouk, Noura;
Laborde, Lilian;
Beauvallet, Juana;
Dondon, Marie-Gabrielle;
Eon-Marchais, Séverine;
Laugé, Anthony;
GEMO Study Collaborators;
Boutry-Kryza, Nadia;
Calender, Alain;
Giraud, Sophie;
Léone, Mélanie;
Bressac-de-Paillerets, Brigitte;
Caron, Olivier;
Guillaud-Bataille, Marine;
Bignon, Yves-Jean;
Uhrhammer, Nancy

Publication type:

journal article

Integrative analysis of dysregulated microRNAs and mRNAs in multiple recurrent synchronized renal tumors from patients with von Hippel-Lindau disease.

Published in:

International Journal of Oncology, 2018, v. 53, n. 4, p. 1455, doi. 10.3892/ijo.2018.4490

By:

Gattolliat, Charles-Henry;
Couvé, Sophie;
Meurice, Guillaume;
Oréar, Cédric;
Droin, Nathalie;
Chiquet, Mathieu;
Ferlicot, Sophie;
Verkarre, Virginie;
Vasiliu, Viorel;
Molinié, Vincent;
Méjean, Arnaud;
Dessen, Philippe;
Giraud, Sophie;
Bressac-De-Paillerets, Brigitte;
Gardie, Betty;
Teh, Bin Tean;
Richard, Stéphane;
Gad, Sophie

Publication type:

Article

DNA double-strand breaks induced by mammographic screening procedures in human mammary epithelial cells.

Published in:

International Journal of Radiation Biology, 2011, v. 87, n. 11, p. 1103, doi. 10.3109/09553002.2011.608410

By:

Colin, Catherine;
Devic, Clément;
Noël, Alain;
Rabilloud, Muriel;
Zabot, Marie-Thérèse;
Pinet-Isaac, Sylvie;
Giraud, Sophie;
Riche, Benjamin;
Valette, Pierre-Jean;
Rodriguez-Lafrasse, Claire;
Foray, Nicolas

Publication type:

Article

Prevalence of Hemoplasma spp. positivity in potential feline blood donors and study of the association with selected clinical variables.

Published in:

Journal of Veterinary Internal Medicine, 2024, v. 38, n. 4, p. 2151, doi. 10.1111/jvim.17119

By:

Roels, Elodie;
Debie, Chiara;
Giraud, Sophie;
Ferreira, Rui;
Gommeren, Kris

Publication type:

Article

Conservative management of endolymphatic sac tumors in von Hippel-Lindau disease: case report.

Published in:

2011

By:

Peyre, Matthieu;
Gaillard, Stephan;
van Effenterre, Remy;
Giraud, Sophie;
Richard, Stéphane

Publication type:

Report

The growing family of hereditary renal cell carcinoma.

Published in:

Nephrology Dialysis Transplantation, 2004, v. 19, n. 12, p. 2954

By:

Stphane Richard;
Rosette Lidereau;
Sophie Giraud

Publication type:

Article

Association of medullary sponge kidney disease and multiple endocrine neoplasia type IIA due to RET gene mutation: is there a causal relationship?

Published in:

Nephrology Dialysis Transplantation, 2000, v. 15, n. 12, p. 2062, doi. 10.1093/ndt/15.12.2062

By:

Diouf, Boucar;
Fary Ka, El Hadj;
Calender, Alain;
Giraud, Sophie;
Diop, Thérèse Moreira

Publication type:

Article

Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 7, p. 986, doi. 10.1093/hmg/ddm371

By:

Gasparre, Giuseppe;
Hervouet, Eric;
de Laplanche, Elodie;
Demont, Jocelyne;
Pennisi, Lucia Fiammetta;
Colombel, Marc;
Mège-Lechevallier, Florence;
Scoazec, Jean-Yves;
Bonora, Elena;
Smeets, Roel;
Smeitink, Jan;
Lazar, Vladimir;
Lespinasse, James;
Giraud, Sophie;
Godinot, Catherine;
Romeo, Giovanni;
Simonnet, Hélène

Publication type:

Article

NF2 gene in neurofibromatosis type 2 patients.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13

By:

Zucman‐Rossi, Jessica;
Legoix, Patricia;
Der Sarkissian, Hera;
Cheret, Genevieve;
Sor, Frederic;
Bernardi, Alberto;
Cazes, Lucien;
Giraud, Sophie;
Ollagnon, Elisabeth;
Lenoir, Gilbert;
Thomas, Gilles

Publication type:

Article

Identification of the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1177, doi. 10.1093/hmg/6.7.1177

By:

Lemmens, Irma;
Van de Ven, Wim J. M.;
Kas, Koen;
Zhang, Chang X.;
Giraud, Sophie;
Wautot, Virginie;
Buisson, Nathalie;
De Witte, Ko;
Salandre, Janine;
Lenoir, Gilbert;
Pugeat, Michel;
Calender, Alain;
Parente, Fabienne;
Quincey, Danielle;
Gaudray, Patrick;
De Wit, Mireille J.;
Lips, Cornelis J. M.;
Höppener, Jo W. M.;
Khodaei, Shideh;
Grant, Abby L.

Publication type:

Article

Familial medullary thyroid carcinoma with noncysteine ret mutations: phenotype-genotype relationship in a large series of patients.

Published in:

2001

By:

NICCOLI-SIRE, PATRICIA;
MURAT, ARNAUD;
ROHMER, VINCENT;
FRANC, SYLVIA;
CHABRIER, GERARD;
BALDET, LINE;
MAES, BEATRICE;
SAVAGNER, FREDERIQUE;
GIRAUD, SOPHIE;
BEZIEAU, STEPHANE;
KOTTLER, MARIE-LAURE;
MORANGE, SOPHIE;
CONTE-DEVOLX, BERNARD

Publication type:

journal article

Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene.

Published in:

International Journal of Cancer, 2005, v. 117, n. 2, p. 230, doi. 10.1002/ijc.21176

By:

Hughes, David J.;
Ginolhac, Sophie M.;
Coupier, Isabelle;
Barjhoux, Laure;
Gaborieau, Valérie;
Bressac-de-Paillerets, Brigitte;
Chompret, Agnès;
Bignon, Yves-Jean;
Uhrhammer, Nancy;
Lasset, Christine;
Giraud, Sophie;
Sobol, Hagay;
Hardouin, Agnès;
Berthet, Pascaline;
Peyrat, Jean-Philippe;
Fournier, Joelle;
Nogues, Catherine;
Lidereau, Rosette;
Muller, Danièle;
Fricker, Jean-Pierre

Publication type:

Article

Bevacizumab in Patients With Hereditary Hemorrhagic Telangiectasia and Severe Hepatic Vascular Malformations and High Cardiac Output.

Published in:

JAMA: Journal of the American Medical Association, 2012, v. 307, n. 9, p. 948, doi. 10.1001/jama.2012.250

By:

Dupuis-Girod, Sophie;
Ginon, Isabelle;
Saurin, Jean-Christophe;
Marion, Denis;
Guillot, Elsa;
Decullier, Evelyne;
Roux, Adeline;
Carette, Marie-France;
Gilbert-Dussardier, Brigitte;
Hatron, Pierre-Yves;
Lorcerie, Bernard;
Lacombe, Pascal;
Rivière, Sophie;
Corre, Romain;
Giraud, Sophie;
Bailly, Sabine;
Paintaud, Gilles;
Ternant, David;
Valette, Pierre-Jean;
Plauchu, Henri

Publication type:

Article

Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 163, doi. 10.1186/s13023-014-0163-z

By:

Benusiglio, Patrick R;
Giraud, Sophie;
Deveaux, Sophie;
Méjean, Arnaud;
Correas, Jean-Michel;
Joly, Dominique;
Timsit, Marc-Olivier;
Ferlicot, Sophie;
Verkarre, Virginie;
Abadie, Caroline;
Chauveau, Dominique;
Leroux, Dominique;
Avril, Marie-Françoise;
Cordier, Jean-François;
Richard, Stéphane

Publication type:

Article

Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.

Published in:

2014

By:

Benusiglio, Patrick R;
Giraud, Sophie;
Deveaux, Sophie;
Méjean, Arnaud;
Correas, Jean-Michel;
Joly, Dominique;
Timsit, Marc-Olivier;
Ferlicot, Sophie;
Verkarre, Virginie;
Abadie, Caroline;
Chauveau, Dominique;
Leroux, Dominique;
Avril, Marie-Françoise;
Cordier, Jean-François;
Richard, Stéphane;
French National Cancer Institute Inherited Predisposition to Kidney Cancer Network

Publication type:

Journal Article

One-year progression-free survival of therapy-naive patients with malignant pheochromocytoma and paraganglioma.

Published in:

2013

By:

Hescot, Ségolène;
Leboulleux, Sophie;
Amar, Laurence;
Vezzosi, Delphine;
Borget, Isabelle;
Bournaud-Salinas, Claire;
de la Fouchardiere, Christelle;
Libé, Rossella;
Do Cao, Christine;
Niccoli, Patricia;
Tabarin, Antoine;
Raingeard, Isabelle;
Chougnet, Cécile;
Giraud, Sophie;
Gimenez-Roqueplo, Anne-Paule;
Young, Jacques;
Borson-Chazot, Francoise;
Bertherat, Jérôme;
Wemeau, Jean-Louis;
Bertagna, Xavier

Publication type:

Journal Article

Head and Neck Paragangliomas in Von Hippel-Lindau Disease and Multiple Endocrine Neoplasia Type 2.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 6, p. 1938, doi. 10.1210/jc.2009-0354

By:

Boedeker, Carsten C.;
Erlic, Zoran;
Richard, Stéphane;
Kontny, Udo;
Gimenez-Roqueplo, Anne-Paule;
Cascon, Alberto;
Robledo, Mercedes;
de Campos, José M.;
van Nederveen, Francien H.;
de Krijger, Ronald R.;
Burnichon, Nelly;
Gaal, José;
Walter, Martin A.;
Reschke, Kirsten;
Wiech, Thorsten;
Weber, Johannes;
Rückauer, Klaus;
Plouin, Pierre Francois;
Darrouzet, Vincent;
Giraud, Sophie

Publication type:

Article

Bilateral multiple renal oncocytomas and cysts associated with a constitutional translocation (8;9)(q24.1;q34.3) and a rare constitutional VHL missense substitution.

Published in:

Genes, Chromosomes & Cancer, 1998, v. 21, n. 3, p. 260, doi. 10.1002/(SICI)1098-2264(199803)21:3<260::AID-GCC12>3.0.CO;2-T

By:

Teh, Bin T.;
Blennow, Elizabeth;
Giraud S, Sophie;
Sahlén, Sigrid;
Hii, Su I.;
Brookwell, Ross;
Brauch, Hiltrud;
Nordenskjöld, Magnus;
Larsson, Catharina;
Nicol, David

Publication type:

Article

Distribution of ENG and ACVRL1 ( ALK1) mutations in French HHT patients.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 598, doi. 10.1002/humu.9421

By:

Lesca, Gaëtan;
Burnichon, Nelly;
Raux, Grégory;
Tosi, Mario;
Pinson, Stéphane;
Marion, Marie-Jeanne;
Babin, Emmanuel;
Gilbert-Dussardier, Brigitte;
Rivière, Sophie;
Goizet, Cyril;
Faivre, Laurence;
Plauchu, Henri;
Frébourg, Thierry;
Calender, Alain;
Giraud, Sophie

Publication type:

Article

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 145, doi. 10.1002/humu.20280

By:

Auclair, Jessie;
Busine, Marie Pierre;
Navarro, Claudine;
Ruano, Eric;
Montmain, Gilles;
Desseigne, Françoise;
Saurin, Jean Christophe;
Lasset, Christine;
Bonadona, Valérie;
Giraud, Sophie;
Puisieux, Alain;
Wang, Qing

Publication type:

Article

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 435, doi. 10.1002/humu.20109

By:

Gallou, Catherine;
Chauveau, Dominique;
Richard, Stéphane;
Joly, Dominique;
Giraud, Sophie;
Olschwang, Sylviane;
Martin, Natacha;
Saquet, Céline;
Chrétien, Yves;
Méjean, Arnaud;
Correas, Jean-Michel;
Benoît, Gérard;
Colombeau, Pierre;
Grünfeld, Jean-Pierre;
Junien, Claudine;
Béroud, Christophe

Publication type:

Article

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

Published in:

Human Mutation, 2004, v. 24, n. 3, p. 215, doi. 10.1002/humu.20082

By:

Gallou, Catherine;
Chauveau, Dominique;
Richard, Stéphane;
Joly, Dominique;
Giraud, Sophie;
Olschwang, Sylviane;
Martin, Natacha;
Saquet, Céline;
Chrétien, Yves;
Méjean, Arnaud;
Correas, Jean-Michel;
Benoît, Gérard;
Colombeau, Pierre;
Grünfeld, Jean-Pierre;
Junien, Claudine;
Béroud, Christophe

Publication type:

Article

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 289, doi. 10.1002/humu.20017

By:

Lesca, Gaëtan;
Plauchu, Henri;
Coulet, Florence;
Lefebvre, Sylvain;
Plessis, Ghislaine;
Odent, Sylvie;
Rivière, Sophie;
Leheup, Bruno;
Goizet, Cyril;
Carette, Marie-France;
Cordier, Jean-François;
Pinson, Stéphane;
Soubrier, Florent;
Calender, Alain;
Giraud, Sophie

Publication type:

Article

Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.

Published in:

Human Mutation, 1998, v. 12, n. 6, p. 424, doi. 10.1002/(SICI)1098-1004(1998)12:6<424::AID-HUMU9>3.0.CO;2-H

By:

Olschwang, Sylviane;
Richard, Stéphane;
Boisson, Cécile;
Giraud, Sophie;
Laurent-Puig, Pierre;
Resche, François;
Thomas, Gilles

Publication type:

Article

Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?

Published in:

2022

By:

Coppin, Lucie;
Giraud, Sophie;
Pasmant, Eric;
Lagarde, Arnaud;
North, Marie-Odile;
Le-Collen, Lauriane;
Aubert, Valérie;
Mougel, Grégory;
Ladsous, Miriam;
Louboutin, Alyzée;
Brixi, Hedia;
Haissaguerre, Magalie;
Scheyer, Nicolas;
Klein, Marc;
Tabarin, Antoine;
Delemer, Brigitte;
Barlier, Anne;
Odou, Marie-Françoise;
Romanet, Pauline

Publication type:

Literature Review

Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?

Published in:

European Journal of Endocrinology, 2020, v. 182, n. 1, p. 57, doi. 10.1530/EJE-19-0641

By:

Coppin, Lucie;
Dufosse, Margaux;
Romanet, Pauline;
Giraud, Sophie;
North, Marie-Odile;
Bauters, Catherine Cardot;
Borson-Chazot, Françoise;
Duchesne, Laurence;
Métallo, Mélanie;
Lovecchio, Tonio;
Barlier, Anne;
Odou, Marie-Françoise

Publication type:

Article

A SDHB malignant paraganglioma with dramatic response to temozolomide-capecitabine.

Published in:

European Journal of Endocrinology, 2012, v. 166, n. 6, p. 1107, doi. 10.1530/EJE-11-1098

By:

Noziéres, Cécile;
Walter, Thomas;
Joly, Marie-Odile;
Giraud, Sophie;
Scoazec, Jean-Yves;
Borson-Chazot, Françoise;
Simon, Chantal;
Riou, Jean-Paul;
Lombard-Bohas, Catherine

Publication type:

Article

Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing.

Published in:

Familial Cancer, 2025, v. 24, n. 1, p. 1, doi. 10.1007/s10689-025-00445-z

By:

Boedec, Morgane;
Aucouturier, Camille;
Cavaillé, Mathias;
Leman, Raphaël;
Castéra, Laurent;
Delhomelle, Hélène;
Uhrhammer, Nancy;
Bernard, Virginie;
Giraud, Sophie;
Lasseaux, Eulalie;
Jones, Natalie;
Bidart, Marie;
Boutry-Kryza, Nadia;
Noguès, Catherine;
Colas, Chrystelle;
Maugard, Christine;
Krieger, Sophie;
Bouras, Ahmed

Publication type:

Article

Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14.

Published in:

Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00067

By:

Letteboer, Tom G. W.;
Benzinou, Michael;
Merrick, Christopher B.;
Quigley, David A.;
Kechen Zhau;
Kim, Il-Jin;
To, Minh D.;
Jablons, David M.;
van Amstel, Johannes K. P.;
Westermann, Cornelius J. J.;
Giraud, Sophie;
Dupuis-Girod, Sophie;
Lesca, Gaetan;
Berg, Jonathan H.;
Balmain, Allan;
Akhurst, Rosemary J.

Publication type:

Article

Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort.

Published in:

Cancers, 2023, v. 15, n. 13, p. 3420, doi. 10.3390/cancers15133420

By:

Bouras, Ahmed;
Guidara, Souhir;
Leone, Mélanie;
Buisson, Adrien;
Martin-Denavit, Tanguy;
Dussart, Sophie;
Lasset, Christine;
Giraud, Sophie;
Bonnet-Dupeyron, Marie-Noëlle;
Kherraf, Zine-Eddine;
Sanlaville, Damien;
Fert-Ferrer, Sandra;
Lebrun, Marine;
Bonadona, Valerie;
Calender, Alain;
Boutry-Kryza, Nadia

Publication type:

Article

Genomic expression and single-nucleotidepolymorphism profiling discriminates chromophoberenal cell carcinoma and oncocytoma.

Published in:

BMC Cancer, 2010, v. 10, p. 196, doi. 10.1186/1471-2407-10-196

By:

Min-Han Tan;
Chin Fong Wong;
Hwei Ling Tan;
Yang, Ximing J.;
Ditlev, Jonathon;
Matsuda, Daisuke;
Sok Kean Khoo;
Jun Sugimura;
Fujioka, Tomoaki;
Furge, Kyle A.;
Kort, Eric;
Giraud, Sophie;
Ferlicot, Sophie;
Vielh, Philippe;
Amsellem-Ouazana, Delphine;
Debré, Bernard;
Flam, Thierry;
Thiounn, Nicolas;
Zerbib, Marc;
Benoît, Gérard

Publication type:

Article

Intensity-dependent constitutional MLH1 promoter methylation leads to early onset of colorectal cancer by affecting both alleles.

Published in:

Genes, Chromosomes & Cancer, 2011, v. 50, n. 3, p. 178, doi. 10.1002/gcc.20842

By:

Auclair, Jessie;
Vaissière, Thomas;
Desseigne, Françoise;
Lasset, Christine;
Bonadona, Valérie;
Giraud, Sophie;
Saurin, Jean-Christophe;
Joly, Marie-Odile;
Leroux, Dominique;
Faivre, Laurence;
Audoynaud, Carole;
Montmain, Gilles;
Ruano, Eric;
Herceg, Zdenko;
Puisieux, Alain;
Wang, Qing

Publication type:

Article

Un-Knowing the Embryo: The Moral Labor of Doing Preimplantation Genetic Testing in France.

Published in:

Medical Anthropology, 2025, v. 44, n. 2, p. 185, doi. 10.1080/01459740.2025.2479673

By:

Giraud, Anne-Sophie

Publication type:

Article

Publisher Correction: Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.

Published in:

2020

By:

De Talhouet, Solene;
Peron, Julien;
Vuilleumier, Aurelie;
Friedlaender, Alex;
Viassolo, Valeria;
Ayme, Aurélie;
Bodmer, Alexandre;
Treilleux, Isabelle;
Lang, Noemie;
Tille, Jean-Christophe;
Chappuis, Pierre O.;
Buisson, Adrien;
Giraud, Sophie;
Lasset, Christine;
Bonadona, Valerie;
Trédan, Olivier;
Labidi-Galy, S. Intidhar

Publication type:

Correction Notice

Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-63759-1

By:

Talhouet, Solene De;
Peron, Julien;
Vuilleumier, Aurelie;
Friedlaender, Alex;
Viassolo, Valeria;
Ayme, Aurélie;
Bodmer, Alexandre;
Treilleux, Isabelle;
Lang, Noemie;
Tille, Jean- Christophe;
Chappuis, Pierre O.;
Buisson, Adrien;
Giraud, Sophie;
Lasset, Christine;
Bonadona, Valerie;
Trédan, Olivier;
Labidi-Galy, S.Intidhar

Publication type:

Article

Impact of recommendations on crushing medications in geriatrics: from prescription to administration.

Published in:

Fundamental & Clinical Pharmacology, 2015, v. 29, n. 3, p. 316, doi. 10.1111/fcp.12116

By:

Bourdenet, Gwladys;
Giraud, Sophie;
Artur, Marion;
Dutertre, Sophie;
Dufour, Marie;
Lefèbvre‐Caussin, Marie;
Proux, Alice;
Philippe, Sandrine;
Capet, Corinne;
Fontaine‐Adam, Magali;
Kadri, Karine;
Landrin, Isabelle;
Gréboval, Emmanuelle;
Touflet, Myriam;
Nanfack, Jules;
Tharasse, Christine;
Varin, Rémi;
Rémy, Elise;
Daouphars, Mikaël;
Doucet, Jean

Publication type:

Article

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.

Published in:

Thyroid, 2017, v. 27, n. 12, p. 1511, doi. 10.1089/thy.2016.0399

By:

Lebeault, Maylis;
Pinson, Stéphane;
Guillaud-Bataille, Marine;
Gimenez-Roqueplo, Anne-Paule;
Carrie, Alain;
Barbu, Véronique;
Pigny, Pascal;
Bezieau, Stéphane;
Rey, Jean-Marc;
Delvincourt, Chantal;
Giraud, Sophie;
Veyrat-Durebex, Charlotte;
Saulnier, Patrick;
Bouzamondo, Nathalie;
Chabbert, Marie;
Blin, Julien;
Mohamed, Amira;
Romanet, Pauline;
Borson-Chazot, Francoise;
Rohmer, Vincent

Publication type:

Article

Gene‐ and pathway‐level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility.

Published in:

International Journal of Cancer, 2021, v. 148, n. 8, p. 1895, doi. 10.1002/ijc.33457

By:

Lonjou, Christine;
Eon‐Marchais, Séverine;
Truong, Thérèse;
Dondon, Marie‐Gabrielle;
Karimi, Mojgan;
Jiao, Yue;
Damiola, Francesca;
Barjhoux, Laure;
Le Gal, Dorothée;
Beauvallet, Juana;
Mebirouk, Noura;
Cavaciuti, Eve;
Chiesa, Jean;
Floquet, Anne;
Audebert‐Bellanger, Séverine;
Giraud, Sophie;
Frebourg, Thierry;
Limacher, Jean‐Marc;
Gladieff, Laurence;
Mortemousque, Isabelle

Publication type:

Article

L'embryon humain en AMP, éléments pour une approche relationnelle.

Published in:

Enfances, Familles, Generations, 2014, n. 21, p. 48, doi. 10.7202/1025959ar

By:

Giraud, Anne-Sophie

Publication type:

Article

UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population.

Published in:

2018

By:

Romanet, Pauline;
Mohamed, Amira;
Giraud, Sophie;
Odou, Marie-Françoise;
North, Marie-Odile;
Pertuit, Morgane;
Pasmant, Eric;
Coppin, Lucie;
Guien, Céline;
Calender, Alain;
Borson-Chazot, Françoise;
Béroud, Christophe;
Goudet, Pierre;
Barlier, Anne

Publication type:

journal article

BRCA1/BRCA2 germline mutations and chemotherapy-related hematological toxicity in breast cancer patients.

Published in:

Breast Cancer Research & Treatment, 2019, v. 174, n. 3, p. 775, doi. 10.1007/s10549-018-05127-2

By:

Friedlaender, Alex;
Vuilleumier, Aurélie;
Viassolo, Valeria;
Ayme, Aurélie;
De Talhouet, Solène;
Combes, Jean-Damien;
Peron, Julien;
Bodmer, Alexandre;
Giraud, Sophie;
Buisson, Adrien;
Bonadona, Valerie;
Gauchat-Bouchardy, Isabelle;
Tredan, Olivier;
Chappuis, Pierre O.;
Labidi-Galy, S. Intidhar

Publication type:

Article

A Rare Mimic of Hereditary Hemorrhagic Telangiectasia and Conjunctivitis.

Published in:

Annals of Internal Medicine, 2007, v. 146, n. 2, p. 150, doi. 10.7326/0003-4819-146-2-200701160-00018

By:

Blanc, Frederic;
Fleury, Marie;
Echaniz-Laguna, Andoni;
Giraud, Sophie;
Szwarcberg, Jerome;
Tranchant, Christine

Publication type:

Article

Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.

Published in:

Human Mutation, 2022, v. 43, n. 3, p. 316, doi. 10.1002/humu.24313

By:

Sebai, Molka;
Tulasne, David;
Caputo, Sandrine M.;
Verkarre, Virginie;
Fernandes, Marie;
Guérin, Célia;
Reinhart, Fanny;
Adams, Séverine;
Maugard, Christine;
Caron, Olivier;
Guillaud‐Bataille, Marine;
Berthet, Pascaline;
Bignon, Yves‐Jean;
Bressac‐de Paillerets, Brigitte;
Burnichon, Nelly;
Chiesa, Jean;
Giraud, Sophie;
Lejeune, Sophie;
Limacher, Jean‐Marc;
de Pauw, Antoine

Publication type:

Article

Proposition of adjustments to the ACMG‐AMP framework for the interpretation of MEN1 missense variants.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. 661, doi. 10.1002/humu.23746

By:

Romanet, Pauline;
Odou, Marie‐Françoise;
North, Marie‐Odile;
Saveanu, Alexandru;
Coppin, Lucie;
Pasmant, Eric;
Mohamed, Amira;
Goudet, Pierre;
Borson‐Chazot, Françoise;
Calender, Alain;
Béroud, Christophe;
Lévy, Nicolas;
Giraud, Sophie;
Barlier, Anne

Publication type:

Article

Somatic MMR Gene Mutations as a Cause for MSI- H Sebaceous Neoplasms in Muir-Torre Syndrome-Like Patients.

Published in:

Human Mutation, 2015, v. 36, n. 3, p. 292, doi. 10.1002/humu.22740

By:

Joly, Marie‐Odile;
Attignon, Valéry;
Saurin, Jean‐Christophe;
Desseigne, Françoise;
Leroux, Dominique;
Martin‐Denavit, Tanguy;
Giraud, Sophie;
Bonnet‐Dupeyron, Marie‐Noëlle;
Faivre, Laurence;
Auclair, Jessie;
Grand‐Masson, Chloé;
Audoynaud, Carole;
Wang, Qing

Publication type:

Article