Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein von Mariani, L. L., Rivaud-Péchoux, S., Charles, P., Ewenczyk, C., Meneret, A., Monga, B. B., Fleury, M.-C., Hainque, E., Maisonobe, T., Degos, B., Echaniz-Laguna, A., Renaud, M., Wirth, T., Grabli, D., Brice, A., Vidailhet, M., Stoppa-Lyonnet, D., Dubois-d’Enghien, C., Le Ber, I., Koenig, M., Roze, E., Tranchant, C., Durr, A., Gaymard, B., Anheim, M.

Volltext

Chromosomal CGH identifies patients with a higher risk of relapse in neuroblastoma without MYCN amplification von Schleiermacher, G, Michon, J, Huon, I, d'Enghien, C Dubois, Klijanienko, J, Brisse, H, Ribeiro, A, Mosseri, V, Rubie, H, Munzer, C, Thomas, C, Valteau-Couanet, D, Auvrignon, A, Plantaz, D, Delattre, O, Couturier, J

Volltext

Molecular Defects in Moroccan Patients with Ataxia-Telangiectasia von Jeddane, L., Ailal, F., Dubois-d’Enghien, C., Abidi, O., Benhsaien, I., Kili, A., Chaouki, S., Kriouile, Y., El Hafidi, N., Fadil, H., Abilkassem, R., Rada, N., Bousfiha, A. A., Barakat, A., Stoppa-Lyonnet, D., Bellaoui, H.

Volltext

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

Volltext

Germline \textitBAP1 mutations predispose to renal cell carcinomas von Popova, T., Hebert, L., Jacquemin, V., Gad, S., Caux-Moncoutier, V., Dubois-d'Enghien, C., Richaudeau, B., Renaudin, X., Sellers, J., Nicolas, A., Sastre-Garau, X., Desjardins, L., Gyapay, G., Raynal, V., Sinilnikova, O. M., Andrieu, N., Manie, E., Pauw, A. De, Gesta, P., Bonadona, V., Maugard, C. M., Penet, C., Avril, M. F., Barillot, E., Cabaret, O., Delattre, O., Richard, S., Caron, O., Benfodda, M., Hu, H. H., Soufir, N., Bressac-de Paillerets, B., Stoppa-Lyonnet, D., Stern, M. H.

Volltext

Étude de cohorte française sur l’ataxie télangiectasie (CoF-AT) von Cavaciuti, E., Dubois-D’Enghien, C., Laugé, A., Dondon, M.G., Labbé, M., Janin, N., Coupier, I., Bay, J.-O., Hall, J., Stoppa-Lyonnet, D., Andrieu, N.

Volltext

Variable expression of CD3‐ζ chain in tumor‐infiltrating lymphocytes (TIL) derived from renal‐cell carcinoma: Relationship with til phenotype and function von Tartour, Eric, Latour, Sylvain, Mathiot, Claire, Thiounn, Nicolas, Mosseri, Véronique, Joyeux, Isabelle, D'Enghien, Catherine Dubois, Lee, Renshiang, Debre, Bernard, Fridman, Wolf Herman

Volltext

L’amplification de HER2 est une altération génétique précédant la dissémination micrométastatique des carcinomes mammaires von Vincent-Salomon, A., Couturier, J., Dubois d’Enghien, C., Huon, I., Caly, M., Nos, C., Freneaux, P., Rosty, C., Pouillart, P., Sigal- Zafrani, B., Thiery, J.P., Pierga, J.Y., Sastre-Garau, X.

Volltext

Imaging of the month: value of 99mTc MIBI in the assessment of plasmacytoma extension von Richard, T, Brohée, D, d'Enghien, H Dubois, Vanhaeverbeek, M

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

Highly Sensitive Detection Method of DICER1 Tumor Hotspot Mutations by Drop-off Droplet Digital PCR von Vibert, Roseline, Gauthier-Villars, Marion, Carrière, Christelle, Dubois d'Enghien, Catherine, Cyrta, Joanna, Vincent-Salomon, Anne, Stoppa-Lyonnet, Dominique, Bièche, Ivan, Jeannot, Emmanuelle, Golmard, Lisa

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext