Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies von Suarez, Felipe, Mahlaoui, Nizar, Canioni, Danielle, Andriamanga, Chantal, Dubois d'Enghien, Catherine, Brousse, Nicole, Jais, Jean-Philippe, Fischer, Alain, Hermine, Olivier, Stoppa-Lyonnet, Dominique

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Biallelic inactivation of REV7 is associated with Fanconi anemia von Bluteau, Dominique, Masliah-Planchon, Julien, Clairmont, Connor, Rousseau, Alix, Ceccaldi, Raphael, Dubois d'Enghien, Catherine, Bluteau, Olivier, Cuccuini, Wendy, Gachet, Stéphanie, Peffault de Latour, Régis, Leblanc, Thierry, Socié, Gérard, Baruchel, André, Stoppa-Lyonnet, Dominique, D'Andrea, Alan D, Soulier, Jean

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Functional classification of ATM variants in ataxia‐telangiectasia patients von Fiévet, Alice, Bellanger, Dorine, Rieunier, Guillaume, Dubois d'Enghien, Catherine, Sophie, Julia, Calvas, Patrick, Carriere, Jean‐Paul, Anheim, Mathieu, Castrioto, Anna, Flabeau, Olivier, Degos, Bertrand, Ewenczyk, Claire, Mahlaoui, Nizar, Touzot, Fabien, Suarez, Felipe, Hully, Marie, Roubertie, Agathe, Aladjidi, Nathalie, Tison, François, Antoine‐Poirel, Hélène, Dahan, Karine, Doummar, Diane, Nougues, Marie‐Christine, Ioos, Christine, Rougeot, Christelle, Masurel, Alice, Bourjault, Caroline, Ginglinger, Emmanuelle, Prieur, Fabienne, Siri, Aurélie, Bordigoni, Pierre, Nguyen, Karine, Philippe, Noel, Bellesme, Céline, Demeocq, François, Altuzarra, Cecilia, Mathieu‐Dramard, Michèle, Couderc, Fanny, Dörk, Thilo, Auger, Nathalie, Parfait, Béatrice, Abidallah, Khadija, Moncoutier, Virginie, Collet, Agnès, Stoppa‐Lyonnet, Dominique, Stern, Marc‐Henri

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Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect von Fiévet, Alice, Bellanger, Dorine, Valence, Stéphanie, Mobuchon, Lenha, Afenjar, Alexandra, Giuliano, Fabienne, Dubois d'Enghien, Catherine, Parfait, Béatrice, Pedespan, Jean‐Michel, Auger, Nathalie, Rieunier, Guillaume, Collet, Agnès, Burglen, Lydie, Stoppa‐Lyonnet, Dominique, Stern, Marc‐Henri

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The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia von Méneret, Aurélie, Ahmar-Beaugendre, Yara, Rieunier, Guillaume, Mahlaoui, Nizar, Gaymard, Bertrand, Apartis, Emmanuelle, Tranchant, Christine, Rivaud-Péchoux, Sophie, Degos, Bertrand, Benyahia, Baya, Suarez, Felipe, Maisonobe, Thierry, Koenig, Michel, Durr, Alexandra, Stern, Marc-Henri, Dubois d’Enghien, Catherine, Fischer, Alain, Vidailhet, Marie, Stoppa-Lyonnet, Dominique, Grabli, David, Anheim, Mathieu

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DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility von Fiévet, Alice, Bellanger, Dorine, Zahed, Laila, Burglen, Lydie, Derrien, Anne‐Céline, Dubois d'Enghien, Catherine, Lespinasse, James, Parfait, Béatrice, Pedespan, Jean‐Michel, Rieunier, Guillaume, Stoppa‐Lyonnet, Dominique, Stern, Marc‐Henri

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Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands von Gueguen, Lorraine, Delaval, Ronan, Blanluet, Maud, Sartelet, Hervé, Leou, Sylvie, Dubois d’Enghien, Catherine, Golmard, Lisa, Stoppa-Lyonnet, Dominique, Testevuide, Pascale, Faguer, Stanislas

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Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families von Renault, Anne-Laure, Mebirouk, Noura, Cavaciuti, Eve, Le Gal, Dorothée, Lecarpentier, Julie, d'Enghien, Catherine Dubois, Laugé, Anthony, Dondon, Marie-Gabrielle, Labbé, Martine, Lesca, Gaetan, Leroux, Dominique, Gladieff, Laurence, Adenis, Claude, Faivre, Laurence, Gilbert-Dussardier, Brigitte, Lortholary, Alain, Fricker, Jean-Pierre, Dahan, Karin, Bay, Jacques-Olivier, Longy, Michel, Buecher, Bruno, Janin, Nicolas, Zattara, Hélène, Berthet, Pascaline, Combès, Audrey, Coupier, Isabelle, Hall, Janet, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Lesueur, Fabienne

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Spontaneous abrogation of the G2 DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients von Ceccaldi, Raphael, Briot, Delphine, Larghero, Jérôme, Vasquez, Nadia, Dubois d’Enghien, Catherine, Chamousset, Delphine, Noguera, Maria-Elena, Waisfisz, Quinten, Hermine, Olivier, Pondarre, Corinne, Leblanc, Thierry, Gluckman, Eliane, Joenje, Hans, Stoppa-Lyonnet, Dominique, Socié, Gérard, Soulier, Jean

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Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia von Bogliolo, Massimo, Bluteau, Dominique, Lespinasse, James, Pujol, Roser, Vasquez, Nadia, d'Enghien, Catherine Dubois, Stoppa-Lyonnet, Dominique, Leblanc, Thierry, Soulier, Jean, Surrallés, Jordi

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PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects von Berland, Aurélie, Rosain, Jérémie, Kaltenbach, Sophie, Allain, Vincent, Mahlaoui, Nizar, Melki, Isabelle, Fievet, Alice, Dubois d'Enghien, Catherine, Ouachée-Chardin, Marie, Perrin, Laurence, Auger, Nathalie, Cipe, Funda Erol, Finocchi, Andrea, Dogu, Figen, Suarez, Felipe, Moshous, Despina, Leblanc, Thierry, Belot, Alexandre, Fieschi, Claire, Boutboul, David, Malphettes, Marion, Galicier, Lionel, Oksenhendler, Eric, Blanche, Stéphane, Fischer, Alain, Revy, Patrick, Stoppa-Lyonnet, Dominique, Picard, Capucine, de Villartay, Jean-Pierre

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Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions von Quentin, Samuel, Cuccuini, Wendy, Ceccaldi, Raphael, Nibourel, Olivier, Pondarre, Corinne, Pagès, Marie-Pierre, Vasquez, Nadia, Dubois d'Enghien, Catherine, Larghero, Jérôme, Peffault de Latour, Régis, Rocha, Vanderson, Dalle, Jean-Hugues, Schneider, Pascale, Michallet, Mauricette, Michel, Gérard, Baruchel, André, Sigaux, François, Gluckman, Eliane, Leblanc, Thierry, Stoppa-Lyonnet, Dominique, Preudhomme, Claude, Socié, Gérard, Soulier, Jean

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Germline mutation in the RAD51B gene confers predisposition to breast cancer von Golmard, Lisa, Caux-Moncoutier, Virginie, Davy, Grégoire, Al Ageeli, Essam, Poirot, Brigitte, Tirapo, Carole, Michaux, Dorothée, Barbaroux, Catherine, d'Enghien, Catherine Dubois, Nicolas, André, Castéra, Laurent, Sastre-Garau, Xavier, Stern, Marc-Henri, Houdayer, Claude, Stoppa-Lyonnet, Dominique

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Mutiple DICER1‐related lesions associated with a germline deep intronic mutation von Verrier, Florian, Dubois d'Enghien, Catherine, Gauthier‐Villars, Marion, Bonadona, Valérie, Faure‐Conter, Cécile, Dijoud, Frédérique, Stoppa‐Lyonnet, Dominique, Houdayer, Claude, Golmard, Lisa

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Evaluation of in silico splice tools for decision-making in molecular diagnosis von Houdayer, Claude, Dehainault, Catherine, Mattler, Christophe, Michaux, Dorothée, Caux-Moncoutier, Virginie, Pagès-Berhouet, Sabine, d'Enghien, Catherine Dubois, Laugé, Anthony, Castera, Laurent, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique

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Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations von JACQUEMIN, Virginie, RIEUNIER, Guillaume, JACOB, Sandrine, BELLANGER, Dorine, DUBOIS D'ENGHIEN, Catherine, LAUGE, Anthony, STOPPA-LYONNET, Dominique, STERN, Marc-Henri

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ATM Gene Mutation Detection Techniques and Functional Analysis von Rieunier, Guillaume, D’Enghien, Catherine Dubois, Fievet, Alice, Bellanger, Dorine, Stoppa-Lyonnet, Dominique, Stern, Marc-Henri

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Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype von Micol, Romain, MD, MPH, PhD, Ben Slama, Lilia, PhD, Suarez, Felipe, MD, PhD, Le Mignot, Loïc, MSc, Beauté, Julien, MD, MSc, Mahlaoui, Nizar, MD, MSc, Dubois d’Enghien, Catherine, BSc, Laugé, Anthony, BSc, Hall, Janet, PhD, Couturier, Jérôme, MD, Vallée, Louis, MD, Delobel, Bruno, MD, Rivier, François, MD, PhD, Nguyen, Karine, MD, Billette de Villemeur, Thierry, MD, Stephan, Jean-Louis, MD, Bordigoni, Pierre, MD, Bertrand, Yves, MD, Aladjidi, Nathalie, MD, Pedespan, Jean-Michel, MD, Thomas, Caroline, MD, Pellier, Isabelle, MD, MSc, Koenig, Michel, MD, PhD, Hermine, Olivier, MD, PhD, Picard, Capucine, MD, PhD, Moshous, Despina, MD, PhD, Neven, Bénédicte, MD, PhD, Lanternier, Fanny, MD, Blanche, Stéphane, MD, Tardieu, Marc, MD, PhD, Debré, Marianne, MD, Fischer, Alain, MD, PhD, Stoppa-Lyonnet, Dominique, MD, PhD

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Biallelic inactivation of REV7 is associated with Fanconi anemia von Bluteau, Dominique, Masliah-Planchon, Julien, Clairmont, Connor, Rousseau, Alix, Ceccaldi, Raphael, d'Enghien, Catherine Dubois, Bluteau, Olivier, Cuccuini, Wendy, Gachet, Stéphanie, de Latour, Régis Peffault, Leblanc, Thierry, Socié, Gérard, Baruchel, André, Stoppa-Lyonnet, Dominique, D'Andrea, Alan D, Soulier, Jean

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Histological Characteristics of Ataxia Telangiectasia Associated Lymphoproliferative Diseases. Results of the French Registry of Primary Immune Deficiencies von Canioni, Danielle, Mahlaoui, Nizar, Andriamanga, Chantal, Dubois d’Enghien, Catherine, Jais, Jean-Philippe, Fischer, Alain, Hermine, Olivier, Brousse, Nicole, Stoppa-Lyonnet, Dominique, Suarez, Felipe

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