Not logged in.png)
Share.png)
SaveContributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism
Lippincott, Margaret F.; Schafer, Evan C.; Hindman, Anna A.; He, Wen; Brauner, Raja; Delaney, Angela; Grinspon, Romina; Hall, Janet E.; Hirschhorn, Joel N.; McElreavey, Kenneth; Palmert, Mark R.; Rey, Rodolfo; Seminara, Stephanie B.; Salem, Rany M.; Chan, Yee-Ming Share Save Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levelsMontenegro, Luciana; Seraphim, Carlos; Tinano, Flavia; Piovesan, Maiara; Canton, Ana P. M.; Mcelreavey, Ken; Brabant, Severine; Boris, Natalia P.; Magnuson, Melissa; Carroll, Rona S.; Kaiser, Ursula B.; Argente, Jesus; Barrios, Vicente; Brito, Vinicius N.; Brauner, Raja; Latronico, Ana Claudia Share Save Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and PubertyDuckett, Katie; Williamson, Alice; Kincaid, John W. R.; Rainbow, Kara; Corbin, Laura J.; Martin, Hilary C.; Eberhardt, Ruth Y.; Huang, Qin Qin; Hurles, Matthew E.; He, Wen; Brauner, Raja; Delaney, Angela; Dunkel, Leo; Grinspon, Romina P.; Hall, Janet E.; Hirschhorn, Joel N.; Howard, Sasha R.; Latronico, Ana C.; Jorge, Alexander A. L.; McElreavey, Ken; Mericq, Veronica; Merino, Paulina M.; Palmert, Mark R.; Plummer, Lacey; Rey, Rodolfo A.; Rezende, Raissa C.; Seminara, Stephanie B.; Salnikov, Kathryn; Banerjee, Indraneel; Lam, Brian Y. H.; Perry, John R. B.; Timpson, Nicholas J.; Clayton, Peter; Chan, Yee-Ming; Ong, Ken K.; O'Rahilly, Stephen Share Save Clinical and Genetic Characterization of Familial Central Precocious PubertyTinano, Flavia Rezende; Canton, Ana Pinheiro Machado; Montenegro, Luciana R.; de Castro Leal, Andrea; Faria, Aline G.; Seraphim, Carlos E.; Brauner, Raja; Jorge, Alexander A.; Mendonca, Berenice B.; Argente, Jesus; Brito, Vinicius N.; Latronico, Ana Claudia Share Save Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohortJullien, Nicolas; Saveanu, Alexandru; Vergier, Julia; Marquant, Emeline; Quentien, Marie Helene; Castinetti, Frederic; Galon-Faure, Noemie; Brauner, Raja; Marrakchi Turki, Zinet; Tauber, Maite; El Kholy, Mohamed; Linglart, Agnes; Rodien, Patrice; Fedala, Nora Soumeya; Bergada, Ignacio; Cortet-Rudelli, Christine; Polak, Michel; Nicolino, Marc; Stuckens, Chantal; Barlier, Anne; Brue, Thierry; Reynaud, Rachel Share Save TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal lociDavis, Erica E.; Balasubramanian, Ravikumar; Kupchinsky, Zachary A.; Keefe, David L., Jr.; Plummer, Lacey; Khan, Kamal; Meczekalski, Blazej; Heath, Karen E.; Lopez-Gonzalez, Vanesa; Ballesta-Martinez, Mary J.; Margabanthu, Gomathi; Price, Susan; Greening, James; Brauner, Raja; Valenzuela, Irene; Cusco, Ivon; Fernandez-Alvarez, Paula; Wierman, Margaret E.; Li, Taibo; Lage, Kasper; Barroso, Priscila Sales; Chan, Yee-Ming; Crowley, William F.; Katsanis, Nicholas Share Save Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndromeMcElreavey, Ken; Jorgensen, Anne; Eozenou, Caroline; Merel, Tiphanie; Bignon-Topalovic, Joelle; Tan, Daisylyn Senna; Houzelstein, Denis; Buonocore, Federica; Warr, Nick; Kay, Raissa G. G.; Peycelon, Matthieu; Siffroi, Jean-Pierre; Mazen, Inas; Achermann, John C.; Shcherbak, Yuliya; Leger, Juliane; Sallai, Agnes; Carel, Jean-Claude; Martinerie, Laetitia; Le Ru, Romain; Conway, Gerard S.; Mignot, Brigitte; Van Maldergem, Lionel; Bertalan, Rita; Globa, Evgenia; Brauner, Raja; Jauch, Ralf; Nef, Serge; Greenfield, Andy; Bashamboo, Anu Share Save The TALE homeodomain of PBX1 is involved in human primary testis-determinationEozenou, Caroline; Bashamboo, Anu; Bignon-Topalovic, Joelle; Merel, Tiphanie; Zwermann, Oliver; Lourenco, Diana; Lottmann, Henri; Lichtenauer, Urs; Rojo, Sandra; Beuschlein, Felix; McElreavey, Ken; Brauner, Raja Share Save Algorithms to Define Abnormal Growth in Children: External Validation and Head-To-Head ComparisonScherdel, Pauline; Matczak, Soraya; Leger, Juliane; Martinez-Vinson, Christine; Goulet, Olivier; Brauner, Raja; Nicklaus, Sophie; Resche-Rigon, Matthieu; Chalumeau, Martin; Heude, Barbara Share Save ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signalingHarris, Abigail; Siggers, Pam; Corrochano, Silvia; Warr, Nick; Sagar, Danielle; Grimes, Daniel T.; Suzuki, Makoto; Burdine, Rebecca D.; Cong, Feng; Koo, Bon-Kyoung; Clevers, Hans; Stevant, Isabelle; Nef, Serge; Wells, Sara; Brauner, Raja; Ben Rhouma, Bochra; Belguith, Neila; Eozenou, Caroline; Bignon-Topalovic, Joelle; Bashamboo, Anu; McElreavey, Ken; Greenfield, Andy Share Save Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomaliesPortnoi, Marie-France; Dumargne, Marie-Charlotte; Rojo, Sandra; Witchel, Selma F.; Duncan, Andrew J.; Eozenou, Caroline; Bignon-Topalovic, Joelle; Yatsenko, Svetlana A.; Rajkovic, Aleksandar; Reyes-Mugica, Miguel; Almstrup, Kristian; Fusee, Leila; Srivastava, Yogesh; Chantot-Bastaraud, Sandra; Hyon, Capucine; Louis-Sylvestre, Christine; Validire, Pierre; Pichard, Caroline de Malleray; Ravel, Celia; Christin-Maitre, Sophie; Brauner, Raja; Rossetti, Raffaella; Persani, Luca; Charreau, Eduardo H.; Dain, Liliana; Chiauzzi, Violeta A.; Mazen, Inas; Rouba, Hassan; Schluth-Bolard, Caroline; MacGowan, Stuart; McLean, W. H. Irwin; Patin, Etienne; Rajpert-De Meyts, Ewa; Jauch, Ralf; Achermann, John C.; Siffroi, Jean-Pierre; McElreavey, Ken; Bashamboo, Anu Share Save Share Save Share Save Diazoxide in Children With Obesity After Hypothalamic-Pituitary Lesions: A Randomized, Placebo-Controlled TrialBrauner, Raja; Serreau, Raphael; Souberbielle, Jean-Claude; Pouillot, Monique; Grouazel, Sophie; Recasens, Christophe; Zerah, Michel; Sainte-Rose, Christian; Treluyer, Jean-Marc Share Save A therapeutic education program focuses on the transition of patients, with chronic endocrine conditions, between pediatric and adult endocrinology services (vol 45, pg e119, 2016)Malivoir, Sabine; Courtillot, Carine; Bachelot, Anne; Chakhtoura, Zeina; Tejedor, Isabelle; Touraine, Philippe; Polak, Michel; Leger, Julianne; Pinto, Graziella; Brauner, Raja; Crosnier, Helene; Bidet, Maud; Doz, Francois; Dufour, Christelle; Grill, Jacques; Zenaty, Delphine; Brugieres, Laurence; Carel, Jean Claude; Czernichow, Paul; Houang, Muriel; Patte, Catherine; Pawels, Christian; Crepon, Sophie Guilmin; Personnier, Claire; Sainte Rose, Christian; Thalassinos, Caroline Share Save Share Save Share Save Share Save Share Save 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
