Results 11 to 20 of about 1,165,403 (129)

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   +2 more sources

The importance of early recognition of Prader-Willi syndrome [PDF]

Due to its rare nature and subtle dysmorphisms, Prader-Willi syndrome can be challenging to recognize and diagnose in the neonatal period. Feeding difficulties and hypotonia ('floppy infant') are the most striking characteristics.
Burgers, Melanie, Klaassens, Merel, Janssen, Etienne J.M., Geelen, Joyce M., Kerkhof, Gerthe F., Sinnema, Margje   +5 more
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Prader-Willi Syndrome. About a Case [PDF]

Revista Finlay, 2021
Prader-Willi syndrome is a rare genetic disease, characterized by hypothalamic-pituitary anomalies, which presents with severe hypotonia during the neonatal period and the first two years of life, with hyperphagia with a high risk of developing morbid ...
Carlos Enrique Cruz Carrazana, Claudia García Carrazana   +1 more
doaj   +3 more sources

Genetics of Prader-Willi syndrome

, 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

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   +2 more sources

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

, 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

Face processing and exploration of social signals in Prader-Willi syndrome: a genetic signature

Orphanet Journal of Rare Diseases, 2019
Background Faces are critical social cues that must be perfectly processed in order to engage appropriately in everyday social interactions. In Prader-Willi Syndrome (PWS), a rare genetic disorder characterized by cognitive and behavioural difficulties ...
Jimmy Debladis, Marion Valette, Kuzma Strenilkov, Carine Mantoulan, Denise Thuilleaux, Virginie Laurier, Catherine Molinas, Pascal Barone, Maïthé Tauber   +8 more
doaj   +1 more source

Experience of severe desaturation during anesthetic induction period in an obese adult patient with Prader-Willi syndrome -A case report- [PDF]

Korean Journal of Anesthesiology, 2012
Prader-Willi syndrome is characterized by infantile hypotonia, childhood-onset obesity, short stature, mental retardation, hyperphagia, hypogonadism. After infantile hypotonia phase, patient is prone to morbid obesity due to hyperphagia.
Joon Woo Choi, Eun-Ju Kim, Byung Woo Min, Jong Seouk Ban, Sang Gon Lee, Ji-Hyang Lee   +5 more
doaj   +1 more source

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

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   +1 more source

A study of voice and non-voice processing in Prader-Willi syndrome

Orphanet Journal of Rare Diseases, 2020
Background Prader-Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder of genetic origin. It manifests itself in endocrine and cognitive problems, including highly pronounced hyperphagia and severe obesity.
Kuzma Strenilkov, Jimmy Debladis, Juliette Salles, Marion Valette, Carine Mantoulan, Denise Thuilleaux, Virginie Laurier, Catherine Molinas, Pascal Barone, Maïthé Tauber   +9 more
doaj   +1 more source