Neonatal Diabetes Mellitus
Beltrand, Jacques, Busiah, Kanetee, Vaivre-Douret, Laurence, Fauret, Anne Laure, Berdugo, Marianne, Cavé, Hélène, Polak, Michel
Published in Frontiers in pediatrics (30.09.2020)
Published in Frontiers in pediatrics (30.09.2020)
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Journal Article
RFX6 Regulates Insulin Secretion by Modulating Ca2+ Homeostasis in Human β Cells
Chandra, Vikash, Albagli-Curiel, Olivier, Hastoy, Benoit, Piccand, Julie, Randriamampita, Clotilde, Vaillant, Emmanuel, Cavé, Hélène, Busiah, Kanetee, Froguel, Philippe, Vaxillaire, Martine, Rorsman, Patrik, Polak, Michel, Scharfmann, Raphael
Published in Cell biology international reports (24.12.2014)
Published in Cell biology international reports (24.12.2014)
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Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome
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
Published in PloS one (26.10.2010)
Published in PloS one (26.10.2010)
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Long-term Metabolic and Socioeducational Outcomes of Transient Neonatal Diabetes: A Longitudinal and Cross-sectional Study
Le Bourgeois, Fleur, Beltrand, Jacques, Baz, Baz, Julla, Jean-Baptiste, Riveline, Jean-Pierre, Simon, Albane, Flechtner, Isabelle, Ait Djoudi, Malek, Fauret-Amsellem, Anne-Laure, Vial, Yoann, Scharfmann, Raphael, Sommet, Julie, Boudou, Philippe, Cavé, Hélène, Polak, Michel, Gautier, Jean-François, Busiah, Kanetee
Published in Diabetes care (01.06.2020)
Published in Diabetes care (01.06.2020)
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Journal Article
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 Mellitus
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
Published in The Journal of biological chemistry (12.08.2011)
Published in The Journal of biological chemistry (12.08.2011)
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Journal Article
Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8
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
Published in Annals of pediatric endocrinology & metabolism (01.03.2021)
Published in Annals of pediatric endocrinology & metabolism (01.03.2021)
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Journal Article
Kir6.2 Mutations Are a Common Cause of Permanent Neonatal Diabetes in a Large Cohort of French Patients
VAXILLAIRE, Martine, POPULAIRE, Céline, BUSIAH, Kanetee, CAVE, Hélène, GLOYN, Anna L, HATTERSLEY, Andrew T, CZERNICHOW, Paul, FROGUEL, Philippe, POLAK, Michel
Published in Diabetes (New York, N.Y.) (01.10.2004)
Published in Diabetes (New York, N.Y.) (01.10.2004)
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Journal Article
Evaluation of the pharmacokinetics of glibenclamide tablet given, off label, orally to children suffering from neonatal syndromic hyperglycemia
Bouazza, Naïm, Djerada, Zoubir, Gozalo, Claire, Busiah, Kanetee, Beltrand, Jacques, Berdugo, Marianne, Urien, Saik, Treluyer, Jean-Marc, Polak, Michel
Published in European journal of clinical pharmacology (01.11.2016)
Published in European journal of clinical pharmacology (01.11.2016)
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Journal Article
New ABCC8 Mutations in Relapsing Neonatal Diabetes and Clinical Features
VAXILLAIRE, Martine, DECHAUME, Aurélie, BUSIAH, Kanetee, CAVE, Hélène, PEREIRA, Sabrina, SCHARFMANN, Raphael, PEREZ DE NANCLARES, Guiomar, CASTANO, Luis, FROGUEL, Philippe, POLAK, Michel
Published in Diabetes (New York, N.Y.) (01.06.2007)
Published in Diabetes (New York, N.Y.) (01.06.2007)
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Childhood craniopharyngioma: greater hypothalamic involvement before surgery is associated with higher homeostasis model insulin resistance index
Trivin, Christine, Busiah, Kanetee, Mahlaoui, Nizar, Recasens, Christophe, Souberbielle, Jean-Claude, Zerah, Michel, Sainte-Rose, Christian, Brauner, Raja
Published in BMC pediatrics (02.04.2009)
Published in BMC pediatrics (02.04.2009)
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Journal Article
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?
Morren, Marie-Anne, Fodstad, Heidi, Brems, Hilde, Bedoni, Nicola, Guenova, Emmanuella, Jacot-Guillarmod, Martine, Busiah, Kanetee, Giuliano, Fabienne, Gilliet, Michel, Atallah, Isis
Published in Journal of medical genetics (01.05.2024)
Published in Journal of medical genetics (01.05.2024)
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Journal Article
Interdisciplinary care for gender diverse adolescents. The example of the Centre hospitalier universitaire vaudois (CHUV)
Schmitt, Patrick André, Busiah, Kanetee, Morisod Harari, Mathilde, Jacot-Guillarmod, Martine, Zufferey, Adèle, Ambresin, Anne-Emmanuelle
Published in Revue médicale suisse (17.04.2024)
Published in Revue médicale suisse (17.04.2024)
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Journal Article
Improved General and Height-Specific Quality of Life in Children With Short Stature After 1 Year on Growth Hormone
González Briceño, Laura G, Viaud, Magali, Beltrand, Jacques, Flechtner, Isabelle, Dassa, Yamina, Samara-Boustani, Dinane, Thalassinos, Caroline, Pauwels, Christian, Busiah, Kanetee, Pinto, Graziella, Jaquet, Delphine, Polak, Michel
Published in The journal of clinical endocrinology and metabolism (01.06.2019)
Published in The journal of clinical endocrinology and metabolism (01.06.2019)
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Journal Article
Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations
Beltrand, Jacques, Elie, Caroline, Busiah, Kanetee, Fournier, Emmanuel, Boddaert, Nathalie, Bahi-Buisson, Nadia, Vera, Miriam, Bui-Quoc, Emmanuel, Ingster-Moati, Isabelle, Berdugo, Marianne, Simon, Albane, Gozalo, Claire, Djerada, Zoubir, Flechtner, Isabelle, Treluyer, Jean-Marc, Scharfmann, Raphael, Cavé, Helene, Vaivre-Douret, Laurence, Polak, Michel
Published in Diabetes care (01.11.2015)
Published in Diabetes care (01.11.2015)
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Journal Article
Monogenic diabetes : a pioneer in precision medicine management
Iafrate-Luterbacher, Fanny, Dirlewanger, Mirjam, Hauschild, Michael, Schwitzgebel, Valérie M, Busiah, Kanetee
Published in Revue médicale suisse (22.02.2023)
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Published in Revue médicale suisse (22.02.2023)
Journal Article
Activating Mutations in the ABCC8 Gene in Neonatal Diabetes Mellitus
Babenko, Andrey P, Polak, Michel, Cavé, Hélène, Busiah, Kanetee, Czernichow, Paul, Scharfmann, Raphael, Bryan, Joseph, Aguilar-Bryan, Lydia, Vaxillaire, Martine, Froguel, Philippe
Published in The New England journal of medicine (03.08.2006)
Published in The New England journal of medicine (03.08.2006)
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Journal Article
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
Habarou, Florence, Hamel, Yamina, Haack, Tobias B., Feichtinger, René G., Lebigot, Elise, Marquardt, Iris, Busiah, Kanetee, Laroche, Cécile, Madrange, Marine, Grisel, Coraline, Pontoizeau, Clément, Eisermann, Monika, Boutron, Audrey, Chrétien, Dominique, Chadefaux-Vekemans, Bernadette, Barouki, Robert, Bole-Feysot, Christine, Nitschke, Patrick, Goudin, Nicolas, Boddaert, Nathalie, Nemazanyy, Ivan, Delahodde, Agnès, Kölker, Stefan, Rodenburg, Richard J., Korenke, G. Christoph, Meitinger, Thomas, Strom, Tim M., Prokisch, Holger, Rotig, Agnes, Ottolenghi, Chris, Mayr, Johannes A., de Lonlay, Pascale
Published in American journal of human genetics (03.08.2017)
Published in American journal of human genetics (03.08.2017)
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