Results 11 to 20 of about 15,704 (225)

Central precocious puberty in Prader-Willi syndrome: a narrative review [PDF]

Frontiers in Endocrinology, 2023
Prader-Willi syndrome (PWS, OMIM176270) is a rare genetic disorder with recognizable dysmorphic features and multisystemic consequences such as endocrine, neurocognitive and metabolic ones.
Delia-Maria Nicoară, Alexandra-Cristina Scutca, Alexandra-Cristina Scutca, Niculina Mang, Iulius Juganaru, Iulius Juganaru, Iulius Juganaru, Andrei-Ioan Munteanu, Andrei-Ioan Munteanu, Luiza Vitan, Otilia Mărginean, Otilia Mărginean, Otilia Mărginean   +12 more
doaj   +3 more sources

Molecular Characterization of a Patient Presumed to Have Prader-Willi Syndrome [PDF]

Clinical Medicine Insights: Case Reports, 2013
Prader-Willi syndrome (PWS) is caused by the loss of RNA expression from an imprinted region on chromosome 15 that includes SNRPN, SNORD115, and SNORD116. Currently, there are no mouse models that faithfully reflect the human phenotype and investigations
Marina Falaleeva, Carlos R. Sulsona, Horst R. Zielke, Kathleen M. Currey, Pierre de la Grange, Vahid Aslanzadeh, Daniel J. Driscoll, Stefan Stamm   +7 more
doaj   +3 more sources

Oxytocin in infants with Prader-Willi syndrome to improve dysphagia and disease trajectory [PDF]

Orphanet Journal of Rare Diseases
Objective Prader-Willi syndrome (PWS) is a genetic neurodevelopmental disorder with a characteristic trajectory. Infants display hypotonia, poor social and feeding skills, and high risk of choking, which have been shown to improve after oxytocin (OT ...
Maithe Tauber, Gwenaelle Diene, Pascale Fichaux-Bourin, Graziella Pinto, Iva Gueorguieva, Marc Nicolino, Rachel Reynaud, Delphine Bernoux, Veronique Beauloye, Elin Malek Abrahimians, Cordula Kiewert, Pierre Payoux, Sophie Cabal, Catherine Molinas, Melanie Glattard, Sylvie Viaux-Savelon, Antoine Guedeney, David Cohen, Catherine Arnaud, Marion Valette   +19 more
doaj   +2 more sources

Prader-Willi Syndrome [PDF]

Archives of Pediatrics & Adolescent Medicine, 1984
Sir .—The authors Pauli et al, 1 in their article on the Prader-Willi syndrome, mentioned that there is abundant evidence suggesting that a deletion in chromosome 15 is probably the cause of this syndrome complex. While the authors cited many references accurately, they neglected to mention that the remaining patients, who have been diagnosed as having
R H, Wu, J, Hasen
openaire   +5 more sources

Síndrome de Prader-Willi/ Prader-Willi syndrome [PDF]

Brazilian Journal of Health Review, 2021
INTRODUÇÃO: A Síndrome de Prader-Willi é um raro distúrbio genético causado pela perda de uma parte do cromossomo 15 paterno, podendo gerar diversos problemas ao paciente, como, hipotonia, hiporreflexia, letargia, dificuldade de sucção, entre outros. OBJETIVOS: Este estudo tem como objetivo demonstrar a variedade de apresentações clínicas da síndrome ...
Goulart, Karollyne Campos Ferreira, Golinelli, Erasmo Henrique Rezende, Fernandes, Luiza Castro, Coutinho, Ana Claudia do Nascimento, Pedrini, Isabella Freire, Silva, Haiana Coelho Rocha, Xavier, João Victor Alves, Campos, Luisa, Souza, Luisa Campos de, Barcelos, Luisa Freire, Maciel, Luiz Henrique Alves, Damasceno, Marcela Macedo Marques   +11 more
openaire   +2 more sources

Genetics of Prader-Willi syndrome [PDF]

, 2022
Prader–Willi syndrome (PWS) is a complex genomic imprinting disorder associated with a spectrum of medical, cognitive, behavioural, and psychiatric problems and is also the most common cause of life-threatening obesity that can be effectively treated ...

core   +1 more source

What underlies emotion regulation abilities? An innovative programme based on an integrative developmental approach to improve emotional competencies: Promising results in children with Prader–Willi syndrome

Frontiers in Psychiatry, 2022
BackgroundThis study aimed to test the effect of a new training programme on emotional competencies, named EMO-T, and to show the value of an integrative developmental approach.
Nawelle Famelart, Gwenaelle Diene, Sophie Çabal-Berthoumieu, Mélanie Glattard, Catherine Molinas, Maithe Tauber, Maithe Tauber, Michèle Guidetti   +7 more
doaj   +1 more source

Reducing global health inequalities for a rare disorder: evaluating the international Prader–Willi Syndrome Organisation’s Echo® programme

Orphanet Journal of Rare Diseases, 2022
Background People with rare disorders face significant global health inequalities; the challenge is how to raise awareness and develop a nucleus of experts in a country who are then able to provide guidance to others in that country.
Tanzil Rujeedawa, Nora McNairney, Shelly Cordner, James O’Brien, Georgina Loughnan, Anthony Holland   +5 more
doaj   +1 more source

Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction [PDF]

, 2021
International audiencePrader-Willi syndrome is a rare genetic neurodevelopmental disorder resulting from the loss of expression of maternally imprinted genes located in the paternal chromosomal region, 15q11–13.
Hoybye, C, Charlotte Hoybye, Tauber, M, Hoybye, Charlotte, Maithé Tauber, Tauber, Maithé   +5 more
core   +1 more source

Chromosomal aberrations in patients with suspected Prader Willi syndrome [PDF]

, 2023
Introduction: Prader-Willi syndrome, caused by the absence of expression of the paternal 15q11-13 region, is the first imprinting defect disorder described in humans.
García Gómez, Damaris, Santos Merencio, Lainet, Molina Gamboa, Odalis, Morales Rodríguez, Enny, García García, Alina, Morales Peralta, Estela, Castelvi López, Arlay, Barrios Martinez, Anduriña, Lantigua Cruz, Paulina Araceli, Méndez Rosado, Luis Alberto, Collazo Mesa, Teresa, Soriano Torres, Michel   +11 more
core   +4 more sources