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TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7. [electronic resource] by
- Schluth-Bolard, Caroline
- Till, Marianne
- Labalme, Audrey
- Rey, Catherine
- Banquart, Emmanuelle
- Fautrelle, Anne
- Martin-Denavit, Tanguy
- Le Lorc'h, Marc
- Romana, Serge Pierrick
- Lazar, Vladimir
- Edery, Patrick
- Sanlaville, Damien
Producer: 20080624
In:
European journal of medical genetics vol. 51
Availability: No items available.
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3.
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Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3). [electronic resource] by
- Sanlaville, Damien
- Vialard, François
- Thépot, François
- Vue-Droy, Luce
- Ardalan, Azarnouche
- Nizard, Patrice
- Corré, Alain
- Devauchelle, Bernard
- Martin-Denavit, Tanguy
- Nouchy, Marc
- Malan, Valérie
- Taillemite, Jean-Louis
- Portnoï, Marie-France
Producer: 20050124
In:
American journal of medical genetics. Part A vol. 128A
Availability: No items available.
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Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torre syndrome-like patients. [electronic resource] 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
Producer: 20151125
In:
Human mutation vol. 36
Availability: No items available.
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Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. [electronic resource] by
- Puntervoll, Hanne Eknes
- Yang, Xiaohong R
- Vetti, Hildegunn Høberg
- Bachmann, Ingeborg M
- Avril, Marie Françoise
- Benfodda, Meriem
- Catricalà, Caterina
- Dalle, Stéphane
- Duval-Modeste, Anne B
- Ghiorzo, Paola
- Grammatico, Paola
- Harland, Mark
- Hayward, Nicholas K
- Hu, Hui-Han
- Jouary, Thomas
- Martin-Denavit, Tanguy
- Ozola, Aija
- Palmer, Jane M
- Pastorino, Lorenza
- Pjanova, Dace
- Soufir, Nadem
- Steine, Solrun J
- Stratigos, Alexander J
- Thomas, Luc
- Tinat, Julie
- Tsao, Hensin
- Veinalde, Ruta
- Tucker, Margaret A
- Bressac-de Paillerets, Brigitte
- Newton-Bishop, Julia A
- Goldstein, Alisa M
- Akslen, Lars A
- Molven, Anders
Producer: 20130903
In:
Journal of medical genetics vol. 50
Availability: No items available.
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The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma. [electronic resource] by
- Lesueur, F
- de Lichy, M
- Barrois, M
- Durand, G
- Bombled, J
- Avril, M-F
- Chompret, A
- Boitier, F
- Lenoir, G M
- Bressac-de Paillerets, B
- Baccard, Monique
- Bachollet, Bertrand
- Berthet, Pascaline
- Bonadona, Valérie
- Bonnetblanc, Jean-Marie
- Caron, Olivier
- Chevrant-Breton, Jacqueline
- Cuny, Jean-François
- Dalle, Stéphane
- Delaunay, Michèle
- Demange, Liliane
- De Quatrebarbes, Julie
- Doré, Jean-François
- Frénay, Marc
- Fricker, Jean-Pierre
- Gauthier-Villars, Marion
- Gesta, Paul
- Giraud, Sophie
- Gorry, Philippe
- Grange, Florent
- Green, Andrew
- Huiart, Laetitia
- Janin, Nicolas
- Joly, Pascal
- Kérob, Delphine
- Lasset, Christine
- Leroux, Dominique
- Limacher, Jean-Marc
- Longy, Michel
- Mansard, Sandrine
- Marrou, Karine
- Martin-Denavit, Tanguy
- Mateus, Christine
- Maubec, Eve
- Olivier-Faivre, Laurence
- Orlandini, Vincent
- Pujol, Pascal
- Sassolas, Bruno
- Stoppa-Lyonnet, Dominique
- Thomas, Luc
- Vabres, Pierre
- Venat, Laurence
- Wierzbicka, Ewa
- Zattara, Hélène
Producer: 20080731
In:
British journal of cancer vol. 99
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7.
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Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. [electronic resource] by
- Bertolotto, Corine
- Lesueur, Fabienne
- Giuliano, Sandy
- Strub, Thomas
- de Lichy, Mahaut
- Bille, Karine
- Dessen, Philippe
- d'Hayer, Benoit
- Mohamdi, Hamida
- Remenieras, Audrey
- Maubec, Eve
- de la Fouchardière, Arnaud
- Molinié, Vincent
- Vabres, Pierre
- Dalle, Stéphane
- Poulalhon, Nicolas
- Martin-Denavit, Tanguy
- Thomas, Luc
- Andry-Benzaquen, Pascale
- Dupin, Nicolas
- Boitier, Françoise
- Rossi, Annick
- Perrot, Jean-Luc
- Labeille, Bruno
- Robert, Caroline
- Escudier, Bernard
- Caron, Olivier
- Brugières, Laurence
- Saule, Simon
- Gardie, Betty
- Gad, Sophie
- Richard, Stéphane
- Couturier, Jérôme
- Teh, Bin Tean
- Ghiorzo, Paola
- Pastorino, Lorenza
- Puig, Susana
- Badenas, Celia
- Olsson, Hakan
- Ingvar, Christian
- Rouleau, Etienne
- Lidereau, Rosette
- Bahadoran, Philippe
- Vielh, Philippe
- Corda, Eve
- Blanché, Hélène
- Zelenika, Diana
- Galan, Pilar
- Chaudru, Valérie
- Lenoir, Gilbert M
- Lathrop, Mark
- Davidson, Irwin
- Avril, Marie-Françoise
- Demenais, Florence
- Ballotti, Robert
- Bressac-de Paillerets, Brigitte
Producer: 20160307
In:
Nature vol. 531
Availability: No items available.
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8.
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A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. [electronic resource] by
- Bertolotto, Corine
- Lesueur, Fabienne
- Giuliano, Sandy
- Strub, Thomas
- de Lichy, Mahaut
- Bille, Karine
- Dessen, Philippe
- d'Hayer, Benoit
- Mohamdi, Hamida
- Remenieras, Audrey
- Maubec, Eve
- de la Fouchardière, Arnaud
- Molinié, Vincent
- Vabres, Pierre
- Dalle, Stéphane
- Poulalhon, Nicolas
- Martin-Denavit, Tanguy
- Thomas, Luc
- Andry-Benzaquen, Pascale
- Dupin, Nicolas
- Boitier, Françoise
- Rossi, Annick
- Perrot, Jean-Luc
- Labeille, Bruno
- Robert, Caroline
- Escudier, Bernard
- Caron, Olivier
- Brugières, Laurence
- Saule, Simon
- Gardie, Betty
- Gad, Sophie
- Richard, Stéphane
- Couturier, Jérôme
- Teh, Bin Tean
- Ghiorzo, Paola
- Pastorino, Lorenza
- Puig, Susana
- Badenas, Celia
- Olsson, Hakan
- Ingvar, Christian
- Rouleau, Etienne
- Lidereau, Rosette
- Bahadoran, Philippe
- Vielh, Philippe
- Corda, Eve
- Blanché, Hélène
- Zelenika, Diana
- Galan, Pilar
- Aubin, François
- Bachollet, Bertrand
- Becuwe, Céline
- Berthet, Pascaline
- Bignon, Yves Jean
- Bonadona, Valérie
- Bonafe, Jean-Louis
- Bonnet-Dupeyron, Marie-Noëlle
- Cambazard, Fréderic
- Chevrant-Breton, Jacqueline
- Coupier, Isabelle
- Dalac, Sophie
- Demange, Liliane
- d'Incan, Michel
- Dugast, Catherine
- Faivre, Laurence
- Vincent-Fétita, Lynda
- Gauthier-Villars, Marion
- Gilbert, Brigitte
- Grange, Florent
- Grob, Jean-Jacques
- Humbert, Philippe
- Janin, Nicolas
- Joly, Pascal
- Kerob, Delphine
- Lasset, Christine
- Leroux, Dominique
- Levang, Julien
- Limacher, Jean-Marc
- Livideanu, Cristina
- Longy, Michel
- Lortholary, Alain
- Stoppa-Lyonnet, Dominique
- Mansard, Sandrine
- Mansuy, Ludovic
- Marrou, Karine
- Matéus, Christine
- Maugard, Christine
- Meyer, Nicolas
- Nogues, Catherine
- Souteyrand, Pierre
- Venat-Bouvet, Laurence
- Zattara, Hélène
- Chaudru, Valérie
- Lenoir, Gilbert M
- Lathrop, Mark
- Davidson, Irwin
- Avril, Marie-Françoise
- Demenais, Florence
- Ballotti, Robert
- Bressac-de Paillerets, Brigitte
Producer: 20120223
In:
Nature vol. 480
Availability: No items available.
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