Resultados de Procura por Autor :: APM

1

Neonatal Diabetes Mellitus por Jacques Beltrand, Kanetee Busiah, Laurence Vaivre‐Douret, Anne Laure Fauret, Marianne Berdugo, Hélène Cavé, Michel Polak

Publicado 2020

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Kir6.2 Mutations Are a Common Cause of Permanent Neonatal Diabetes in a Large Cohort of French Patients por Martine Vaxillaire, Céline Populaire, Kanetee Busiah, Hélène Cavé, Anna L. Gloyn, Andrew T. Hattersley, Paul Czernichow, Philippe Froguel, Michel Polak

Publicado 2004

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Activating Mutations in the<i>ABCC8</i>Gene in Neonatal Diabetes Mellitus por Andrey P. Babenko, Michel Polak, Hélène Cavé, Kanetee Busiah, Paul Czernichow, Raphaël Scharfmann, Joseph Bryan, Lydia Aguilar‐Bryan, Martine Vaxillaire, Philippe Froguel

Publicado 2006

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New <i>ABCC8</i> Mutations in Relapsing Neonatal Diabetes and Clinical Features por Martine Vaxillaire, Aurélie Dechaume, Kanetee Busiah, Hélène Cavé, Sabrina Bernárdez Pereira, Raphaël Scharfmann, Guiomar Pérez de Nanclares, Luís Castaño, Philippe Froguel, Michel Polak

Publicado 2007

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5

RFX6 Regulates Insulin Secretion by Modulating Ca2+ Homeostasis in Human β Cells por Vikash Chandra, Olivier Albagli, Benoît Hastoy, Julie Piccand, Clotilde Randriamampita, Emmanuel Vaillant, Hélène Cavé, Kanetee Busiah, Philippe Froguel, Martine Vaxillaire, Patrik Rorsman, Michel Polak, Raphaël Scharfmann

Publicado 2014

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6

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome por Amélie Bonnefond, Emmanuelle Durand, Olivier Sand, Franck De Graeve, Sophie Gallina, Kanetee Busiah, Stéphane Lobbens, Albane Simon, Christine Bellanné‐Chantelot, Louis Létourneau, Raphaël Scharfmann, Jérôme Delplanque, Robert Sladek, Michel Polak, Martine Vaxillaire, Philippe Froguel

Publicado 2010

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7

Childhood Craniopharyngioma: Hypothalamus-Sparing Surgery Decreases the Risk of Obesity por Églantine Elowe-Gruau, Jacques Beltrand, Raja Brauner, Graziella Pinto, Dinane Samara‐Boustani, Caroline Thalassinos, Kanetee Busiah, Kathleen Laborde, Nathalie Boddaert, Michel Zérah, Claire Alapetite, Jacques Grill, Philippe Touraine, Christian Sainte‐Rose, Michel Polak, Stéphanie Puget

Publicado 2013

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Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations por Jacques Beltrand, Caroline Elie, Kanetee Busiah, Emmanuel Fournier, Nathalie Boddaert, Nadia Bahi‐Buisson, Miriam Vera, Emmanuel Bui-Quoc, I. Ingster-Moati, Marianne Berdugo, Albane Simon, Claire Gozalo, Zoubir Djerada, Isabelle Flechtner, Jean‐Marc Tréluyer, Raphaël Scharfmann, Hélène Cavé, Laurence Vaivre‐Douret, Michel Polak

Publicado 2015

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9

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

Publicado 2011

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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy por Florence Habarou, Yamina Hamel, Tobias B. Haack, René G. Feichtinger, Élise Lebigot, Iris Marquardt, Kanetee Busiah, Cécile Laroche, Marine Madrange, Coraline Grisel, Clément Pontoizeau, Monika Eisermann, Audrey Boutron, Dominique Chrétien, Bernadette Chadefaux-Vekemans, Robert Barouki, Christine Bole‐Feysot, Patrick Nitschké, Nicolas Goudin, Nathalie Boddaert, Ivan Nemazanyy, Agnès Delahodde, Stefan Kölker, Richard J. Rodenburg, G. Christoph Korenke, Thomas Meitinger, Tim M. Strom, Holger Prokisch, Agnès Rötig, Chris Ottolenghi, Johannes A. Mayr, Pascale de Lonlay

Publicado 2017

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11

Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study por Chrysanthi Kouri, Idoia Martinez de la Piscina, Rawda Naamneh-Elzenaty, Grit Sommer, Kay‐Sara Sauter, Christa E. Flück, Saygın Abalı, Zehra Yavaş Abalı, S. Faisal Ahmed, Leyla Akın, Maricruz Almaraz, Laura Audí, Murat Aydın, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, María Caimari, Núria Camats, Ariadna Campos-Martorell, Luís Castaño, Anna Casteràs, Semra Çeti̇nkaya, Hedi L. Claahsen‐van der Grinten, Martine Cools, Ines M. Costa, Fatma Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri‐Scallet, Courtney Finlayson, Emilio García García, B. García Cuartero, Alina German, Evgenia Globa, Gil Guerra‐Júnior, Júlio Guerrero, Tülay Güran, Sabine E Hannema, Olaf Hiort, Josephine Hirsch, Ieuan A. Hughes, Marco Janner, Uchenna Kennedy, Zofia Kolesińska, Katherine Lachlan, Anna Lauber-Biason, Jana Malíková, Dagmar l’Allemand, Nina Lenhnerr-Taube, Angela K Lucas‐Herald, Jamala Mammadova, Verónica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenström, Burçe Orman, Şükran Poyrazoğlu, Jose M. Rial, Meilan M. Rutter, Amaia Rodrı́guez, Tara Schafer-Kalkhoff, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, L. Tack, Rieko Tadokoro‐Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Małgorzata Waśniewska, David Zangen, Н. Б. Зелінська

Publicado 2025

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Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development por Chrysanthi Kouri, Grit Sommer, Idoia Martinez de la Piscina, Rawda Naamneh Elzenaty, Lloyd Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygın Abalı, Zehra Yavaş Abalı, Leyla Akın, Maricruz Almaraz, Laura Audí, Murat Aydın, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, María Caimari, Núria Camats, Ariadna Campos-Martorell, Luís Castaño, Anna Casteràs, Semra Çeti̇nkaya, Yee-Ming Chan, Hedi L. Claahsen‐van der Grinten, Ines M. Costa, Fatma Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri‐Scallet, Courtney Finlayson, Emilio García García, B. García Cuartero, Alina German, Evgenia Globa, Gil Guerra‐Júnior, Júlio Guerrero, Tülay Güran, Sabine E Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesińska, Katherine Lachlan, Anna Lauber-Biason, Jana Malíková, Dagmar l’Allemand, Nina Lenhnerr-Taube, Angela K Lucas‐Herald, Jamala Mammadova, Kenneth MсElreavey, Verónica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenström, Burçe Orman, Şükran Poyrazoğlu, Jose M. Rial, Meilan M. Rutter, Amaia Rodrı́guez, Tara Schafer-Kalkhoff, Kay‐Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro‐Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Małgorzata Waśniewska, David Zangen, Н. Б. Зелінська

Publicado 2024

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