Results 11 to 20 of about 1,183,898 (170)
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 +7 more
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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 +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 +1 more
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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 ...
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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 +11 more
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, 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 +5 more
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Frontiers in Endocrinology, 2023 IntroductionSpinal kinematics/motion are reported to be altered in adolescents and adults with essential obesity, while no information is available in patients with Prader-Willi syndrome so far.
Munkh-Erdene Bayartai +7 more
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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 +8 more
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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 +5 more
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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 +12 more
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