Author: "Stoppa-Lyonnet D" - OpacWWW

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Title:: Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variants
Authors:: Villy, M.-C.
Masliah-Planchon, J.
Melaabi, S.
Trabelsi Grati, O.
Girard, E.
Bataillon, G.
Vincent-Salomon, A.
Le Gall, J.
Golmard, L.
Stoppa-Lyonnet, D.
Bieche, I.
Colas, C.; Show more
Source:: In Gynecologic Oncology Reports August 2021 37

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Title:: 38MO Validation study of the ShallowHRDv2 assay for homologous recombination deficiency (HRD) detection in high-grade ovarian carcinomas (HGOC) in the first-line setting, from the phase III PAOLA-1/ENGOT-ov25 trial
Authors:: Callens, C.
Rodrigues, M.J.
Briaux, A.
Browaeys, E.
Eeckhoutte, A.
Pujade-Lauraine, E.
Renault, V.
Stoppa-Lyonnet, D.
Bieche, I.
Bataillon, G.
Heitz, F.
Chiara-Cecere, S.
Rubio Perez, M.J.
Berger, R.
Jakobi Nøttrup, T.
Colombo, N.
Vergote, I.B.
Ray-Coquard, I.L.
Stern, M-H.
Popova, T.; Show more
Source:: In ESMO Open February 2023 8(1) Supplement 1

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Title:: Recommandations pour le diagnostic de prédisposition génétique au mélanome cutané et pour la prise en charge des personnes à risque
Authors:: Avril, M.-F.
Bahadoran, P.
Cabaret, O.
Caron, O.
de la Fouchardière, A.
Demenais, F.
Desjardins, L.
Frébourg, T.
Hammel, P.
Leccia, M.-T.
Lesueur, F.
Mahé, E.
Martin, L.
Maubec, E.
Remenieras, A.
Richard, S.
Robert, C.
Soufir, N.
Stoppa-Lyonnet, D.
Thomas, L.
Vabres, P.
Bressac- de Paillerets, B.; Show more
Alternate Title:: Recommendations for genetic testing and management of individuals genetically at-risk of cutaneous melanoma (English)
Source:: In Annales de dermatologie et de venereologie January 2015 142(1):26-36

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Title:: LMO2-Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1
Authors:: Von Kalle, C.
Schmidt, M.
McCormack, M. P.
Wulffraat, N.
Leboulch, P.
Lim, A.
Osborne, C. S.
Pawliuk, R.
Morillon, E.
Sorensen, R.
Forster, A.
Fraser, P.
Cohen, J. I.
Alexander, I.
Wintergerst, U.
Frebourg, T.
Aurias, A.
Stoppa-Lyonnet, D.
Romana, S.
Radford-Weiss, I.
Gross, F.
Valensi, F.
Delabesse, E.
Macintyre, E.
Sigaux, F.
Soulier, J.
Leiva, L. E.
Wissler, M.
Prinz, C.
Rabbitts, T. H.
Le Deist, F.
Fischer, A.
Cavazzana-Calvo, M.; Show more
Source:: Science, 2003 Oct . 302(5644), 415-419.
Access URL:: https://www.jstor.org/stable/3835321 Link opens in a new window

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Title:: Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition
Authors:: dos Santos, E. SantanaAff1, Aff2, Aff8
Caputo, S. M.
Castera, L.
Gendrot, M.
Briaux, A.
Breault, M.
Krieger, S.
Rogan, P. K.
Mucaki, E. J.
Burke, L. J.
ENIGMA consortium
Bièche, I.Aff2, Aff5
Houdayer, C.Aff2, Aff5
Vaur, D.
Stoppa-Lyonnet, D.Aff2, Aff5
Brown, M. A.
Lallemand, F.
Rouleau, E.; Show more
Source:: Breast Cancer Research and Treatment. 168(2):311-325

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Title:: Communication in Genetic Counselling for Breast/Ovarian Cancer
Authors:: Dolbeault, S.
Flahault, C.
Stoppa-Lyonnet, D.
Brédart, A.; Show more
Source:: Communication in Cancer Care. 168:23-36
Degree:: MD
MD, PhD
PhD

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Title:: Molecular Defects in Moroccan Patients with Ataxia-Telangiectasia
Authors:: Jeddane, L.
Ailal, F.
Dubois-d’Enghien, C.
Abidi, O.
Benhsaien, I.
Kili, A.
Chaouki, S.
Kriouile, Y.
El Hafidi, N.
Fadil, H.
Abilkassem, R.
Rada, N.
Bousfiha, A. A.
Barakat, A.
Stoppa-Lyonnet, D.
Bellaoui, H.; Show more
Source:: NeuroMolecular Medicine. June 2013 15(2):288-294

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Title:: Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition
Authors:: Rouleau, E.
Jesson, B.
Briaux, A.
Nogues, C.
Chabaud, V.
Demange, L.
Sokolowska, J.
Coulet, F.
Barouk-Simonet, E.
Bignon, Y. J.
Bonnet, F.
Bourdon, V.
Bronner, M.
Caputo, S.
Castera, L.
Delnatte, C.
Delvincourt, C.
Fournier, J.
Hardouin, A.
Muller, D.
Peyrat, J. P.
Toulas, C.
Uhrhammer, N.
Vidal, V.
Stoppa-Lyonnet, D.
Bieche, I.
Lidereau, R.; Show more
Source:: Breast Cancer Research and Treatment. June 2012 133(3):1179-1190

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Title:: Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays
Authors:: H’mida-Ben Brahim, D.
M’zahem, A.
Assoum, M.
Bouhlal, Y.
Fattori, F.
Anheim, M.
Ali-Pacha, L.
Ferrat, F.
Chaouch, M.
Lagier-Tourenne, C.
Drouot, N.
Thibaut, C.
Benhassine, T.
Sifi, Y.
Stoppa-Lyonnet, D.
N’Guyen, K.
Poujet, J.
Hamri, A.
Hentati, F.
Amouri, R.
Santorelli, F. M.
Tazir, M.
Koenig, M.; Show more
Source:: Journal of Neurology: Official Journal of the European Neurological Society. January 2011 258(1):56-67

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Title:: Contribution of CDKN2A/P16 , CDK4 and BRCA1/2 germline mutations in individuals with suspected genetic predisposition to uveal melanoma
Authors:: Buecher, B.
Gauthier-Villars, M.
Desjardins, L.
Lumbroso-Le Rouic, L.
Levy, C.
De Pauw, A.
Bombled, J.
Tirapo, C.
Houdayer, C.
Bressac-de Paillerets, B.
Stoppa-Lyonnet, D.; Show more
Source:: Familial Cancer. December 2010 9(4):663-667

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Title:: Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management
Authors:: Anheim, M.Aff1, Aff2
Fleury, M.
Monga, B.Aff2, Aff9
Laugel, V.
Chaigne, D.
Rodier, G.
Ginglinger, E.
Boulay, C.
Courtois, S.
Drouot, N.
Fritsch, M.
Delaunoy, J. P.
Stoppa-Lyonnet, D.Aff7, Aff8
Tranchant, C.Aff1, Aff2
Koenig, M.Aff2, Aff6; Show more
Source:: neurogenetics. 11(1):1-12

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Title:: Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene?
Authors:: Ware, M D
DeSilva, D
Sinilnikova, O M
Stoppa-Lyonnet, D
Tavtigian, S V
Mazoyer, SAff1, ID1209033_cor6; Show more
Source:: Oncogene. 25(2):323-328

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Title:: Rétinoblastome
Authors:: Zucker, J.-M.
Desjardins, L.
Stoppa-Lyonnet, D.
Doz, F.; Show more
Alternate Title:: Retinoblastoma (English)
Source:: In EMC-Pediatrie 2005 2(4):322-331

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Title:: Multiple molecular mechanisms contribute to radiation sensitivity in mantle cell lymphoma
Authors:: M'kacher, R
Bennaceur, AAff1, Aff2
Farace, FAff1, Aff2
Laugé, A
Plassa, L F
Wittmer, E
Dossou, J
Violot, D
Deutsch, E
Bourhis, J
Stoppa-Lyonnet, D
Ribrag, VAff1, Aff2
Carde, P
Parmentier, C
Bernheim, A
Turhan, A GAff1, Aff2, ID1206826_cor16; Show more
Source:: Oncogene. 22(39):7905-7912

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Title:: L’ataxie-télangiectasie : évolution à long terme et risque néoplasique Étude du registre du centre de référence des déficits immunitaires héréditaires (CEREDIH)
Authors:: Suarez, F.
Micol, R.
Mahlaoui, N.
Andriamanga, C.
Hermine, O.
Stoppa-Lyonnet, D.
Fischer, A.; Show more
Source:: In Archives de pédiatrie May 2011 18(5) Supplement 1:H236-H237

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