Neonatal Diabetes Mellitus

por Beltrand, Jacques, Busiah, Kanetee, Vaivre-Douret, Laurence, Fauret, Anne Laure, Berdugo, Marianne, Cavé, Hélène, Polak, Michel
Publicado 2020

Childhood craniopharyngioma: greater hypothalamic involvement before surgery is associated with higher homeostasis model insulin resistance index

por Trivin, Christine, Busiah, Kanetee, Mahlaoui, Nizar, Recasens, Christophe, Souberbielle, Jean-Claude, Zerah, Michel, Sainte-Rose, Christian, Brauner, Raja
Publicado 2009

Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8

por Mouron-Hryciuk, Julie, Stoppa-Vaucher, Sophie, Busiah, Kanetee, Bouthors, Thérèse, Antoniou, Maria Christina, Jacot, Eric, Brusgaard, Klaus, Christesen, Henrik Thybo, Hussain, Khalid, Dwyer, Andrew, Roth-Kleiner, Matthias, Hauschild, Michael
Publicado 2021

Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved

por Lam, Jenny, Stoppa-Vaucher, Sophie, Antoniou, Maria Cristina, Bouthors, Thérèse, Ruiz, Inge, Sekarski, Nicole, Rutz, Tobias, Fries, Sophie, Binz, Pierre Alain, Bütschi, Florence Niel, Vulliemoz, Nicolas, Gawlik, Aneta, Pitteloud, Nelly, Hauschild, Michael, Busiah, Kanetee
Publicado 2023

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

por Bonnefond, Amélie, Durand, Emmanuelle, Sand, Olivier, De Graeve, Franck, Gallina, Sophie, Busiah, Kanetee, Lobbens, Stéphane, Simon, Albane, Bellanné-Chantelot, Christine, Létourneau, Louis, Scharfmann, Raphael, Delplanque, Jérôme, Sladek, Robert, Polak, Michel, Vaxillaire, Martine, Froguel, Philippe
Publicado 2010

Disruption of a Novel Krüppel-like Transcription Factor p300-regulated Pathway for Insulin Biosynthesis Revealed by Studies of the c.-331 INS Mutation Found in Neonatal Diabetes Me...

por Bonnefond, Amélie, Lomberk, Gwen, Buttar, Navtej, Busiah, Kanetee, Vaillant, Emmanuel, Lobbens, Stéphane, Yengo, Loïc, Dechaume, Aurélie, Mignot, Brigitte, Simon, Albane, Scharfmann, Raphaël, Neve, Bernadette, Tanyolaç, Sinan, Hodoglugil, Ugur, Pattou, François, Cavé, Hélène, Iovanna, Juan, Stein, Roland, Polak, Michel, Vaxillaire, Martine, Froguel, Philippe, Urrutia, Raul
Publicado 2011