Search Results - "TAUBER, Maithe"

Setmelanotide for controlling weight and hunger in Bardet-Biedl syndrome by Tauber, Maithe

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Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction by Tauber, Maithé, Hoybye, Charlotte

“…Prader-Willi syndrome is a rare genetic neurodevelopmental disorder resulting from the loss of expression of maternally imprinted genes located in the paternal…”
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An Early Postnatal Oxytocin Treatment Prevents Social and Learning Deficits in Adult Mice Deficient for Magel2 , a Gene Involved in Prader-Willi Syndrome and Autism by Meziane, Hamid, Schaller, Fabienne, Bauer, Sylvian, Villard, Claude, Matarazzo, Valery, Riet, Fabrice, Guillon, Gilles, Lafitte, Daniel, Desarmenien, Michel G, Tauber, Maithé, Muscatelli, Françoise

“…Abstract Background Mutations of MAGEL2 have been reported in patients presenting with autism, and loss of MAGEL2 is also associated with Prader-Willi…”
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Approach to the Patient With Prader-Willi Syndrome by Höybye, Charlotte, Tauber, Maithé

“…Prader-Willi syndrome (PWS) is a rare, multisystemic, genetic disorder involving the hypothalamus. It is caused by loss of expression of paternally inherited…”
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Causes of death in Prader-Willi syndrome: lessons from 11 years' experience of a national reference center by Pacoricona Alfaro, Dibia Liz, Lemoine, Perrine, Ehlinger, Virginie, Molinas, Catherine, Diene, Gwénaëlle, Valette, Marion, Pinto, Graziella, Coupaye, Muriel, Poitou-Bernert, Christine, Thuilleaux, Denise, Arnaud, Catherine, Tauber, Maithé

“…In the last 20 years, substantial improvements have been made in the diagnosis, treatment and management of patients with Prader-Willi syndrome (PWS). Few data…”
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Management of food socialization for children with Prader-Willi Syndrome: An exploration study in Malaysia by Wan, Puspa Melati, Ali, Affezah, Mognard, Elise, Jegathesan, Anasuya Jegathevi, Lee, Soon Li, Ganesan, Rajalakshmi, Noor, Mohd Ismail, Rochedy, Amandine, Valette, Marion, Tauber, Maïthé, Thong, Meow-Keong, Poulain, Jean-Pierre

“…This study aims to explore the food management strategies among caregivers/family members of children with Prader-Willi Syndrome (PWS) using the lens of…”
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Prader‐Willi syndrome: A model for understanding the ghrelin system by Tauber, Maithé, Coupaye, Muriel, Diene, Gwenaelle, Molinas, Catherine, Valette, Marion, Beauloye, Veronique

“…Subsequent to the discovery of ghrelin as the endogenous ligand of growth hormone secretagogue receptor 1a, this unique gut peptide has been found to exert…”
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Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome by Bar, Céline, Diene, Gwenaelle, Molinas, Catherine, Bieth, Eric, Casper, Charlotte, Tauber, Maithé

“…PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. Our study analyzed…”
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Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome by Geoffron, Sophie, Abi Habib, Walid, Chantot-Bastaraud, Sandra, Dubern, Béatrice, Steunou, Virginie, Azzi, Salah, Afenjar, Alexandra, Busa, Tiffanny, Pinheiro Canton, Ana, Chalouhi, Christel, Dufourg, Marie-Noëlle, Esteva, Blandine, Fradin, Mélanie, Geneviève, David, Heide, Solveig, Isidor, Bertrand, Linglart, Agnès, Morice Picard, Fanny, Naud-Saudreau, Catherine, Oliver Petit, Isabelle, Philip, Nicole, Pienkowski, Catherine, Rio, Marlène, Rossignol, Sylvie, Tauber, Maithé, Thevenon, Julien, Vu-Hong, Thuy-Ai, Harbison, Madeleine D, Salem, Jennifer, Brioude, Frédéric, Netchine, Irène, Giabicani, Eloïse

“…Silver-Russell syndrome (SRS) (mainly secondary to 11p15 molecular disruption) and Temple syndrome (TS) (secondary to 14q32.2 molecular disruption) are…”
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Final height and intrauterine growth retardation by Tauber, Maïthé

“…Abstract Approximately 10% of small for gestational age (SGA) children maintain a small body size throughout childhood and often into adult life with a…”
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Growth Hormone Research Society Workshop Summary: Consensus Guidelines for Recombinant Human Growth Hormone Therapy in Prader-Willi Syndrome by Deal, Cheri L, Tony, Michèle, Höybye, Charlotte, Allen, David B, Tauber, Maïthé, Christiansen, Jens Sandahl, Ambler, Geoffrey R, Battista, Renaldo, Beauloye, Véronique, Berall, Glenn, Biller, Beverly M K, Butler, Merlin G, Cassidy, Suzanne B, Chihara, Kazuo, Cohen, Pinchas, Craig, Maria, Farholt, Stense, Goetghebeur, Mireille, Goldstone, Anthony P, Greggi, Tiziana, Grugni, Graziano, Hokken-Koelega, Anita C, Johannsson, Gudmundur, Johnson, Keegan, Kemper, Alex, Kopchick, John J, Malozowski, Saul, Miller, Jennifer, Mogul, Harriette R, Muscatelli, Françoise, Nergårdh, Ricard, Nicholls, Robert D, Radovick, Sally, Rosenthal, M Sara, Sipilä, Ilkka, Tarride, Jean-Eric, Vogels, Annick, Waters, Michael J

“…CONTEXT:Recombinant human GH (rhGH) therapy in Prader-Willi syndrome (PWS) has been used by the medical community and advocated by parental support groups…”
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AZP-531, an unacylated ghrelin analog, improves food-related behavior in patients with Prader-Willi syndrome: A randomized placebo-controlled trial by Allas, Soraya, Caixàs, Assumpta, Poitou, Christine, Coupaye, Muriel, Thuilleaux, Denise, Lorenzini, Françoise, Diene, Gwenaëlle, Crinò, Antonino, Illouz, Frédéric, Grugni, Graziano, Potvin, Diane, Bocchini, Sarah, Delale, Thomas, Abribat, Thierry, Tauber, Maithé

“…Prader-Willi syndrome (PWS) is characterized by early-onset hyperphagia and increased circulating levels of the orexigenic Acylated Ghrelin (AG) hormone with a…”
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Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome by Bieth, Eric, Eddiry, Sanaa, Gaston, Véronique, Lorenzini, Françoise, Buffet, Alexandre, Conte Auriol, Françoise, Molinas, Catherine, Cailley, Dorothée, Rooryck, Caroline, Arveiler, Benoit, Cavaillé, Jérome, Salles, Jean Pierre, Tauber, Maïthé

“…The SNORD116 locus lies in the 15q11-13 region of paternally expressed genes implicated in Prader-Willi Syndrome (PWS), a complex disease accompanied by…”
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Obesity, Overweight, and Pituitary Stalk Interruption Syndrome in Children and Young Adults by Nannette, Gaëlle, Bar, Céline, Diene, Gwenaëlle, Pienkowski, Catherine, Oliver-Petit, Isabelle, Jouret, Béatrice, Cartault, Audrey, Porquet-Bordes, Valérie, Salles, Jean-Pierre, Grunenwald, Solange, Edouard, Thomas, Molinas, Catherine, Tauber, Maithé

“…Pituitary stalk interruption syndrome (PSIS) is rare in the pediatric population. It combines ectopic posterior pituitary stalk interruption and anterior…”
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Effects of the COVID-19 pandemic and lockdown on the mental and physical health of adults with Prader-Willi syndrome by Mosbah, Helena, Coupaye, Muriel, Jacques, Flavien, Tauber, Maithé, Clément, Karine, Oppert, Jean-Michel, Poitou, Christine

“…Prader-Willi syndrome (PWS) is a neurodevelopmental disorder with hypothalamic dysfunction leading to obesity and behavioral disabilities, including eating…”
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Hypothalamic syndrome by Müller, Hermann L., Tauber, Maithé, Lawson, Elizabeth A., Özyurt, Jale, Bison, Brigitte, Martinez-Barbera, Juan-Pedro, Puget, Stephanie, Merchant, Thomas E., van Santen, Hanneke M.

“…Hypothalamic syndrome (HS) is a rare disorder caused by disease-related and/or treatment-related injury to the hypothalamus, most commonly associated with…”
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The Use of Oxytocin to Improve Feeding and Social Skills in Infants With Prader-Willi Syndrome by Tauber, Maïthé, Boulanouar, Kader, Diene, Gwenaelle, Çabal-Berthoumieu, Sophie, Ehlinger, Virginie, Fichaux-Bourin, Pascale, Molinas, Catherine, Faye, Sandy, Valette, Marion, Pourrinet, Jeanne, Cessans, Catie, Viaux-Sauvelon, Sylvie, Bascoul, Céline, Guedeney, Antoine, Delhanty, Patric, Geenen, Vincent, Martens, Henri, Muscatelli, Françoise, Cohen, David, Consoli, Angèle, Payoux, Pierre, Arnaud, Catherine, Salles, Jean-Pierre

“…Patients with Prader-Willi syndrome (PWS) display poor feeding and social skills as infants and fewer hypothalamic oxytocin (OXT)-producing neurons were…”
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Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation by Bar, Céline, Zadro, Charline, Diene, Gwenaelle, Oliver, Isabelle, Pienkowski, Catherine, Jouret, Béatrice, Cartault, Audrey, Ajaltouni, Zeina, Salles, Jean-Pierre, Sevely, Annick, Tauber, Maithé, Edouard, Thomas

“…Patients with pituitary stalk interruption syndrome (PSIS) are initially referred for hypoglycemia during the neonatal period or growth retardation during…”
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Differential DNA methylation in iPSC-derived dopaminergic neurons: a step forward on the role of SNORD116 microdeletion in the pathophysiology of addictive behavior in Prader-Willi syndrome by Salles, Juliette, Eddiry, Sanaa, Amri, Saber, Galindo, Mélissa, Lacassagne, Emmanuelle, George, Simon, Mialhe, Xavier, Lhuillier, Émeline, Franchitto, Nicolas, Jeanneteau, Freddy, Gennero, Isabelle, Salles, Jean-Pierre, Tauber, Maithé

“…Introduction A microdeletion including the SNORD116 gene ( SNORD116 MD) has been shown to drive the Prader-Willi syndrome (PWS) features. PWS is a…”
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Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome by Burnett, Lisa C, LeDuc, Charles A, Sulsona, Carlos R, Paull, Daniel, Rausch, Richard, Eddiry, Sanaa, Carli, Jayne F Martin, Morabito, Michael V, Skowronski, Alicja A, Hubner, Gabriela, Zimmer, Matthew, Wang, Liheng, Day, Robert, Levy, Brynn, Fennoy, Ilene, Dubern, Beatrice, Poitou, Christine, Clement, Karine, Butler, Merlin G, Rosenbaum, Michael, Salles, Jean Pierre, Tauber, Maithe, Driscoll, Daniel J, Egli, Dieter, Leibel, Rudolph L

“…Prader-Willi syndrome (PWS) is caused by a loss of paternally expressed genes in an imprinted region of chromosome 15q. Among the canonical PWS phenotypes are…”
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