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Refinado por: Nome da Publicação: European journal of human genetics : EJHG remover
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11
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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12
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations
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Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations

JACQUEMIN, Virginie ; RIEUNIER, Guillaume ; JACOB, Sandrine ; BELLANGER, Dorine ; DUBOIS D'ENGHIEN, Catherine ; LAUGE, Anthony ; STOPPA-LYONNET, Dominique ; STERN, Marc-Henri

European journal of human genetics : EJHG, 2012-03, Vol.20 (3), p.305-312 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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13
Testing for BRCA1 mutations: a cost-effectiveness analysis
Testing for BRCA1 mutations: a cost-effectiveness analysis
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Testing for BRCA1 mutations: a cost-effectiveness analysis

Sevilla, Christine ; Moatti, Jean-Paul ; Julian-Reynier, Claire ; Eisinger, François ; Stoppa-Lyonnet, Dominique ; Bressac-de Paillerets, Brigitte ; Sobol, Hagay

European journal of human genetics : EJHG, 2002-10, Vol.10 (10), p.599-606 [Periódico revisado por pares]

England: Nature Publishing Group

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14
Patenting and licensing in genetic testing: recommendations of the European Society of Human Genetics
Patenting and licensing in genetic testing: recommendations of the European Society of Human Genetics
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Patenting and licensing in genetic testing: recommendations of the European Society of Human Genetics

Aymé, S ; Matthijs, Gert ; Soini, S

European journal of human genetics : EJHG, 2008-05, Vol.16 Suppl 1, p.S10-S19 [Periódico revisado por pares]

England

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15
Spontaneous disclosure of BRCA112 genetic test results to employers: a French prospective study
Spontaneous disclosure of BRCA112 genetic test results to employers: a French prospective study
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Spontaneous disclosure of BRCA112 genetic test results to employers: a French prospective study

EISINGER, François ; FABRE, Roxane ; LASSET, Christine ; STOPPA-LYONNET, Dominique ; JULIAN-REYNIER, Claire ; NOGUES, Catherine

European journal of human genetics : EJHG, 2012, Vol.20 (9), p.981-983 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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16
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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17
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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18
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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19
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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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20
Patenting and licensing in genetic testing: Recommendations of the European Society of Human Genetics
Patenting and licensing in genetic testing: Recommendations of the European Society of Human Genetics
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Patenting and licensing in genetic testing: Recommendations of the European Society of Human Genetics

Rudan, Igor ; Carothers, Andrew D ; Polasek, Ozren ; Hayward, Caroline ; Vitart, Veronique ; Biloglav, Zrinka ; Kolcic, Ivana ; Zgaga, Lina ; Ivankovic, Davor ; Vorko-Jovic, Ariana ; Wilson, James F ; Weber, James L ; Hastie, Nick ; Wright, Alan ; Campbell, Harry

European journal of human genetics : EJHG, 2008-09, Vol.16 (9), p.1159-1159 [Periódico revisado por pares]

Leiden: Nature Publishing Group

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