Works by Uhrhammer, Nancy

Results: 35
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    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
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    Wild-type genotypes of BRCA1 gene SNPs combined with micro-RNA over-expression in mammary tissue leading to familial breast cancer with an increased risk of distant metastases' occurrence.

    Published in:
    Medical Oncology, 2014, v. 31, n. 11, p. 1, doi. 10.1007/s12032-014-0255-6
    By:
    • Medimegh, Imen;
    • Troudi, Wafa;
    • Stambouli, Nejla;
    • Khodjet-El-Khil, Houssein;
    • Baroudi, Olfa;
    • Ayari, Hajer;
    • Omrane, Ines;
    • Uhrhammer, Nancy;
    • Privat, Maud;
    • Mezlini, Amel;
    • Ayed, Farhat;
    • Romdhane, Khaled;
    • Mader, Sylvie;
    • Bignon, Yve;
    • Elgaaied, Amel
    Publication type:
    Article
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    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
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    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
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    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
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    Is BRCA2 involved in early onset colorectal cancer risk?

    Published in:
    Clinical Genetics, 2020, v. 97, n. 4, p. 668, doi. 10.1111/cge.13679
    By:
    • Gay‐Bellile, Mathilde;
    • Privat, Maud;
    • Martins, Alexandra;
    • Caputo, Sandrine M.;
    • Pebrel‐Richard, Céline;
    • Cavaillé, Mathias;
    • Viala, Sandrine;
    • Corsini, Carole;
    • Rodrigues, Michael;
    • Barnich, Nicolas;
    • Bidet, Yannick;
    • Uhrhammer, Nancy;
    • Bignon, Yves‐Jean
    Publication type:
    Article
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    International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

    Published in:
    Breast Cancer Research & Treatment, 2011, v. 127, n. 3, p. 671, doi. 10.1007/s10549-010-1036-3
    By:
    • Peixoto, Ana;
    • Santos, Catarina;
    • Pinheiro, Manuela;
    • Pinto, Pedro;
    • Soares, Maria;
    • Rocha, Patrícia;
    • Gusmão, Leonor;
    • Amorim, António;
    • Hout, Annemarie;
    • Gerdes, Anne-Marie;
    • Thomassen, Mads;
    • Kruse, Torben;
    • Cruger, Dorthe;
    • Sunde, Lone;
    • Bignon, Yves-Jean;
    • Uhrhammer, Nancy;
    • Cornil, Lucie;
    • Rouleau, Etienne;
    • Lidereau, Rosette;
    • Yannoukakos, Drakoulis
    Publication type:
    Article
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    MicroRNAs 146a and 147b Biomarkers for Colorectal Tumor's Localization.

    Published in:
    BioMed Research International, 2014, v. 2014, p. 1, doi. 10.1155/2014/584852
    By:
    • Omrane, Inés;
    • Kourda, Nadia;
    • Stambouli, Nejla;
    • Privat, Maud;
    • Medimegh, Imen;
    • Arfaoui, Amira;
    • Uhrhammer, Nancy;
    • Bougatef, Karim;
    • Baroudi, Olfa;
    • Bouzaienne, Hassen;
    • Marrakchi, Raja;
    • Bignon, Yves-Jean;
    • Benammar-Elgaaied, Amel
    Publication type:
    Article
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    Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-106
    By:
    • Donadille, Bruno;
    • D'Anella, Pascal;
    • Auclair, Martine;
    • Uhrhammer, Nancy;
    • Sorel, Marc;
    • Grigorescu, Romulus;
    • Ouzounian, Sophie;
    • Cambonie, Gilles;
    • Boulot, Pierre;
    • Laforêt, Pascal;
    • Carbonne, Bruno;
    • Christin-Maitre, Sophie;
    • Bignon, Yves-Jean;
    • Vigouroux, Corinne
    Publication type:
    Article
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