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

DEHAINAULT, Catherine ; MICHAUX, Dorothée ; HOUDAYER, Claude ; PAGES-BERHOUET, Sabine ; CAUX-MONCOUTIER, Virginie ; DOZ, Francois ; DESJARDINS, Laurence ; COUTURIER, Jérome ; PARENT, Philippe ; STOPPA-LYONNET, Dominique ; GAUTHIER-VILLARS, Marion

European journal of human genetics : EJHG, 2007-04, Vol.15 (4), p.473-477 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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2
A guide to cancer genetics in clinical practice
A guide to cancer genetics in clinical practice
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A guide to cancer genetics in clinical practice

Stoppa-Lyonnet, Dominique

European Journal of Human Genetics, 2012-12, Vol.21 (1), p.120-120 [Periódico revisado por pares]

Leiden: Nature Publishing Group

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3
ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis
ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis
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ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis

Fiévet, Alice ; Bernard, Virginie ; Tenreiro, Henrique ; Dehainault, Catherine ; Girard, Elodie ; Deshaies, Vivien ; Hupe, Philippe ; Delattre, Olivier ; Stern, Marc-Henri ; Stoppa-Lyonnet, Dominique ; Golmard, Lisa ; Houdayer, Claude

European journal of human genetics : EJHG, 2019-05, Vol.27 (5), p.792-800 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Assessment of psychosocial difficulties by genetic clinicians and distress in women at high risk of breast cancer: a prospective study
Assessment of psychosocial difficulties by genetic clinicians and distress in women at high risk of breast cancer: a prospective study
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Assessment of psychosocial difficulties by genetic clinicians and distress in women at high risk of breast cancer: a prospective study

Brédart, Anne ; Kop, Jean-Luc ; Tüchler, Anja ; De Pauw, Antoine ; Cano, Alejandra ; Dick, Julia ; Rhiem, Kerstin ; Devilee, Peter ; Schmutzler, Rita ; Stoppa-Lyonnet, Dominique ; Dolbeault, Sylvie

European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1067-1075 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers
Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers
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Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

Golmard, Lisa ; Castéra, Laurent ; Krieger, Sophie ; Moncoutier, Virginie ; Abidallah, Khadija ; Tenreiro, Henrique ; Laugé, Anthony ; Tarabeux, Julien ; Millot, Gael A ; Nicolas, André ; Laé, Marick ; Abadie, Caroline ; Berthet, Pascaline ; Polycarpe, Florence ; Frébourg, Thierry ; Elan, Camille ; de Pauw, Antoine ; Gauthier-Villars, Marion ; Buecher, Bruno ; Stern, Marc-Henri ; Stoppa-Lyonnet, Dominique ; Vaur, Dominique ; Houdayer, Claude

European journal of human genetics : EJHG, 2017-12, Vol.25 (12), p.1345-1353 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay
Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay
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Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay

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

European journal of human genetics : EJHG, 2013-04, Vol.21 (4), p.460-464 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study
Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study
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Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

CAUX-MONCOUTIER, Virginie ; PAGES-BERHOUET, Sabine ; MICHAUX, Dorothée ; ASSELAIN, Bernard ; CASTERA, Laurent ; DE PAUW, Antoine ; BUECHER, Bruno ; GAUTHIER-VILLARS, Marion ; STOPPA-LYONNEE, Dominique ; HOUDAYER, Claude

European journal of human genetics : EJHG, 2009-11, Vol.17 (11), p.1471-1480 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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8
Mosaicism and prenatal diagnosis options: insights from retinoblastoma
Mosaicism and prenatal diagnosis options: insights from retinoblastoma
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Mosaicism and prenatal diagnosis options: insights from retinoblastoma

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

European journal of human genetics : EJHG, 2017-02, Vol.25 (3), p.381-383 [Periódico revisado por pares]

England: Nature Publishing Group

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9
On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations
On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations
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On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations

Hamel, Nancy ; Feng, Bing-Jian ; Foretova, Lenka ; Stoppa-Lyonnet, Dominique ; Narod, Steven A ; Imyanitov, Evgeny ; Sinilnikova, Olga ; Tihomirova, Laima ; Lubinski, Jan ; Gronwald, Jacek ; Gorski, Bohdan ; Hansen, Thomas v O ; Nielsen, Finn C ; Thomassen, Mads ; Yannoukakos, Drakoulis ; Konstantopoulou, Irene ; Zajac, Vladimir ; Ciernikova, Sona ; Couch, Fergus J ; Greenwood, Celia M T ; Goldgar, David E ; Foulkes, William D

European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.300-306 [Periódico revisado por pares]

England: Nature Publishing Group

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10
On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations
On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations
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On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations

HAMEL, Nancy ; FENG, Bing-Jian ; GORSKI, Bohdan ; HANSEN, Thomas V. O ; NIELSEN, Finn C ; THOMASSEN, Mads ; YANNOUKAKOS, Drakoulis ; KONSTANTOPOULOU, Irene ; ZAJAC, Vladimir ; CIERNIKOVA, Sona ; COUCH, Fergus J ; GREENWOOD, Celia Mt ; FORETOVA, Lenka ; GOLDGAR, David E ; FOULKES, William D ; STOPPA-LYONNET, Dominique ; NAROD, Steven A ; IMYANITOV, Evgeny ; SINILNIKOVA, Olga ; TIHOMIROVA, Laima ; LUBINSKI, Jan ; GRONWALD, Jacek

European journal of human genetics : EJHG, 2011, Vol.19 (3), p.300-306 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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