Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Kanetee, Busiah"'
Autor:
Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104941- (2024)
Summary: Background: Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes of differences of sex development (DSD), which remain unexplained. Methods: We
Externí odkaz:
https://doaj.org/article/85fc4633ac7a47e48fff5e498c208fd3
Autor:
Jenny Lam, Sophie Stoppa-Vaucher, Maria Cristina Antoniou, Thérèse Bouthors, Inge Ruiz, Nicole Sekarski, Tobias Rutz, Sophie Fries, Pierre Alain Binz, Florence Niel Bütschi, Nicolas Vulliemoz, Aneta Gawlik, Nelly Pitteloud, Michael Hauschild, Kanetee Busiah
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionTurner syndrome association with multi-organ system comorbidities highlights the need for effective implementation of follow-up guidelines. We aimed to assess the adequacy of care with international guidelines published in 2007 and 2017 a
Externí odkaz:
https://doaj.org/article/34ae3e2c350445a98a05891762642c8b
Autor:
Julie Mouron-Hryciuk, Sophie Stoppa-Vaucher, Kanetee Busiah, Thérèse Bouthors, Maria Christina Antoniou, Eric Jacot, Klaus Brusgaard, Henrik Thybo Christesen, Khalid Hussain, Andrew Dwyer, Matthias Roth-Kleiner, Michael Hauschild
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 26, Iss 1, Pp 60-65 (2021)
Congenital hyperinsulinism (CHI) is a rare glucose metabolism disorder characterized by unregulated secretion of insulin that leads to hyperinsulinemic hypoglycemia (HH). Most cases are caused by mutations in the KATP-channel genes ABCC8 and KCNJ11.
Externí odkaz:
https://doaj.org/article/a3a8e56c2df04c1ba8a0a2027baebe65
Autor:
Fanny Iafrate-Luterbacher, Mirjam Dirlewanger, Michael Hauschild, Valérie M. Schwitzgebel, Kanetee Busiah
Publikováno v:
Revue Médicale Suisse. 19:362-367
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::74ae15f97b9300b75da8fb90c52ebfe2
https://doi.org/10.53738/revmed.2023.19.815.362
https://doi.org/10.53738/revmed.2023.19.815.362
Autor:
Jacques Beltrand, Kanetee Busiah, Laurence Vaivre-Douret, Anne Laure Fauret, Marianne Berdugo, Hélène Cavé, Michel Polak
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Neonatal Diabetes (ND) mellitus is a rare genetic disease (1 in 90,000 live births). It is defined by the presence of severe hyperglycaemia associated with insufficient or no circulating insulin, occurring mainly before 6 months of age and rarely bet
Externí odkaz:
https://doaj.org/article/3356534807174f158c80e3a19edf28b2
Autor:
Christelle Sommer, Eleuthere Stathopoulos, Maria Christina Antoniou, Kanetee Busiah, Michael Hauschild, Oliver Sanchez
Publikováno v:
Journal of Pediatric Surgery Case Reports, Vol 59, Iss , Pp 101532- (2020)
Externí odkaz:
https://doaj.org/article/b808d11e422449a0a5bd90914b37e943
Autor:
Manon Rosimont, Dulanjalee Kariyawasam, Dinane Samara-Boustani, Elisa Giani, Jacques Beltrand, Stephanie Bolle, Brice Fresneau, Stephanie Puget, Christian Sainte-Rose, Claire Alapetite, Graziella Pinto, Philippe Touraine, Marie-Liesse Piketty, Séverine Brabant, Samuel Abbou, Isabelle Aerts, Kevin Beccaria, Marie Bourgeois, Thomas Roujeau, Thomas Blauwblomme, Federico Di Rocco, Caroline Thalassinos, Charlotte Rigaud, Syril James, Kanetee Busiah, Albane Simon, Franck Bourdeaut, Lauriane Lemelle, Léa Guerrini-Rousseau, Daniel Orbach, François Doz, Christelle Dufour, Jacques Grill, Michel Polak, Laura González Briceño
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism.
ContextEndocrine complications are common in pediatric brain tumor patients.ObjectiveTo describe hypothalamic–pituitary–gonadal axis (HPGA) function in patients treated in childhood for a primary brain tumor more than 5 years earlier, in order to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3d1a6e95c3e6d59c7fc66bc12061cc9
https://doi.org/10.1210/clinem/dgad097
https://doi.org/10.1210/clinem/dgad097
Autor:
Laura Gabriela González Briceño, Dulanjalee Kariyawasam, Dinane Samara-Boustani, Elisa Giani, Jacques Beltrand, Stéphanie Bolle, Brice Fresneau, Stéphanie Puget, Christian Sainte-Rose, Claire Alapetite, Graziella Pinto, Marie-Liesse Piketty, Séverine Brabant, Samuel Abbou, Isabelle Aerts, Kevin Beccaria, Marie Bourgeois, Thomas Roujeau, Thomas Blauwblomme, Federico Di Rocco, Caroline Thalassinos, Christian Pauwels, Charlotte Rigaud, Syril James, Kanetee Busiah, Albane Simon, Franck Bourdeaut, Lauriane Lemelle, Léa Guerrini-Rousseau, Daniel Orbach, Philippe Touraine, François Doz, Christelle Dufour, Jacques Grill, Michel Polak
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 107:e2156-e2166
Context Endocrine complications are common in pediatric brain tumor patients. Objective We aimed to describe the endocrine follow-up of patients with primary brain tumors. Methods This is a noninterventional observational study based on data collecti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98f7ca0d4985b1b6328d9e6da8f15bef
https://doi.org/10.1210/clinem/dgab893
https://doi.org/10.1210/clinem/dgab893
Autor:
Vikash Chandra, Olivier Albagli-Curiel, Benoit Hastoy, Julie Piccand, Clotilde Randriamampita, Emmanuel Vaillant, Hélène Cavé, Kanetee Busiah, Philippe Froguel, Martine Vaxillaire, Patrik Rorsman, Michel Polak, Raphael Scharfmann
Publikováno v:
Cell Reports, Vol 9, Iss 6, Pp 2206-2218 (2014)
Development and function of pancreatic β cells involve the regulated activity of specific transcription factors. RFX6 is a transcription factor essential for mouse β cell differentiation that is mutated in monogenic forms of neonatal diabetes. Howe
Externí odkaz:
https://doaj.org/article/2fdf65cdd70d45a48f5c01bc542aa44a
Autor:
Khalid Hussain, Matthias Roth-Kleiner, Eric Jacot, Maria Christina Antoniou, Kanetee Busiah, Henrik Thybo Christesen, Andrew A. Dwyer, Julie Mouron-Hryciuk, Th Eacute R Egrave Se Bouthors, Michael Hauschild, Sophie Stoppa-Vaucher, Klaus Brusgaard
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism
Annals of Pediatric Endocrinology & Metabolism, Vol 26, Iss 1, Pp 60-65 (2021)
Mouron-Hryciuk, J, Stoppa-Vaucher, S, Busiah, K, Bouthors, T E R E S, Antoniou, M C, Jacot, E, Brusgaard, K, Christesen, H T, Hussain, K, Dwyer, A, Roth-Kleiner, M & Hauschild, M 2021, ' Congenital Hyperinsulinism : 2 case reports with different rare variants in ABCC8 ', Annals of Pediatric Endocrinology & Metabolism, vol. 26, no. 1, pp. 60-65 . https://doi.org/10.6065/apem.2040042.021
Annals of pediatric endocrinology & metabolism, vol. 26, no. 1, pp. 60-65
Annals of Pediatric Endocrinology & Metabolism, Vol 26, Iss 1, Pp 60-65 (2021)
Mouron-Hryciuk, J, Stoppa-Vaucher, S, Busiah, K, Bouthors, T E R E S, Antoniou, M C, Jacot, E, Brusgaard, K, Christesen, H T, Hussain, K, Dwyer, A, Roth-Kleiner, M & Hauschild, M 2021, ' Congenital Hyperinsulinism : 2 case reports with different rare variants in ABCC8 ', Annals of Pediatric Endocrinology & Metabolism, vol. 26, no. 1, pp. 60-65 . https://doi.org/10.6065/apem.2040042.021
Annals of pediatric endocrinology & metabolism, vol. 26, no. 1, pp. 60-65
Congenital hyperinsulinism (CHI) is a rare glucose metabolism disorder characterized by unregulated secretion of insulin that leads to hyperinsulinemic hypoglycemia (HH). Most cases are caused by mutations in the KATP-channel genes ABCC8 and KCNJ11.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbb1714a24ad7bb28865145ca344a151
https://doi.org/10.6065/apem.2040042.021
https://doi.org/10.6065/apem.2040042.021