Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.

by Nicolas Kalfa, Maki Fukami, Pascal Philibert, Francoise Audran, Catherine Pienkowski, Jacques Weill, Graziella Pinto, Sylvie Manouvrier, Michel Polak, Totsumo Ogata, Charles Sultan
Published 2012-01-01

Is ghrelin a biomarker of early-onset scoliosis in children with Prader–Willi syndrome?

by Dibia Liz Pacoricona Alfaro, Gwenaelle Diene, Graziella Pinto, Jean-Pierre Salles, Isabelle Gennero, Sandy Faye, Catherine Molinas, Marion Valette, Catherine Arnaud, Maithé Tauber
Published 2021-07-01

Transition of young adults with endocrine and metabolic diseases: the ‘TRANSEND’ cohort

by Enora Le Roux, Florence Menesguen, Isabelle Tejedor, Marc Popelier, Marine Halbron, Pauline Faucher, Sabine Malivoir, Graziella Pinto, Juliane Léger, Stephane Hatem, Michel Polak, Christine Poitou, Philippe Touraine
Published 2021-02-01

Causes of death in Prader-Willi syndrome: lessons from 11 years’ experience of a national reference center

by Dibia Liz Pacoricona Alfaro, Perrine Lemoine, Virginie Ehlinger, Catherine Molinas, Gwénaëlle Diene, Marion Valette, Graziella Pinto, Muriel Coupaye, Christine Poitou-Bernert, Denise Thuilleaux, Catherine Arnaud, Maithé Tauber
Published 2019-11-01

Paradoxical low severity of COVID-19 in Prader-Willi syndrome: data from a French survey on 647 patients

by Muriel Coupaye, Virginie Laurier, Grégoire Benvegnu, Christine Poitou, Pauline Faucher, Héléna Mosbah, Gwenaelle Diene, Graziella Pinto, Laura González Briceño, Christine Merrien, Ana Camarena Toyos, Emilie Montastier, Maithé Tauber, Fabien Mourre
Published 2021-07-01

Sustained remission after haploidentical bone marrow transplantation in a child with refractory systemic juvenile idiopathic arthritis

by Guillaume Morelle, Martin Castelle, Graziella Pinto, Sylvain Breton, Matthieu Bendavid, Charlotte Boussard, Richard Mouy, Brigitte Bader-Meunier, Michaela Semeraro, Albert Faye, Marina Cavazzana, Bénédicte Neven, Stéphane Blanche, Pierre Quartier, Despina Moshous
Published 2021-03-01

High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis

by Athanasia Stoupa, Athanasia Stoupa, Athanasia Stoupa, Ghada Al Hage Chehade, Rim Chaabane, Dulanjalee Kariyawasam, Gabor Szinnai, Gabor Szinnai, Sylvain Hanein, Christine Bole-Feysot, Cécile Fourrage, Patrick Nitschke, Caroline Thalassinos, Graziella Pinto, Mouna Mnif, Sabine Baron, Marc De Kerdanet, Rachel Reynaud, Pascal Barat, Mongia Hachicha, Neila Belguith, Neila Belguith, Michel Polak, Michel Polak, Michel Polak, Michel Polak, Michel Polak, Aurore Carré, Aurore Carré
Published 2021-02-01