Results 81 to 90 of about 1,165,403 (129)
Elsődleges genetikai vizsgálat Prader–Willi-szindróma igazolására = Rapid first-tier genetic diagnosis in patients with Prader–Willi syndrome [PDF]
, 2018 Absztrakt: Bevezetés: A nemzetközi szakirodalmi adatok alapján az SNRPN génlocus promoter régiójának DNS-metilációs vizsgálata jelenleg a legérzékenyebb és leghatékonyabb kezdeti lépés a
Buiting, Karin +23 more
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Targeting the Gut Microbiome in Prader-Willi Syndrome
, 2021 Overwhelming evidence demonstrates an important role of the gut microbiome in the development of a wide range of diseases, including obesity, metabolic disorders, and mental health symptoms.
Carles Lerin +4 more
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Acta Paediatrica, Volume 115, Issue 9, Page 1891-1898, September 2026.ABSTRACT Aim It is unclear how early childhood obesity treatment affects metabolic risk. This study assessed long‐term metabolic health in children with obesity aged 4–6 years and examined associations with weight status. Methods This prospective cohort study pooled data from the Sweden‐based More and Less randomized controlled trial, which compared a ...
Markus Brissman +6 more
wiley +1 more source
Cerebral sinus thrombosis in an infant with Prader-Willi syndrome and literature review
Journal of Pediatric and Neonatal Individualized Medicine, 2013 A full-term male neonate from a first pregnancy of two clinical non-consanguineous parents was born at 40 weeks of gestation with cesarean section.
Ilias Chatziioannidis +5 more
doaj +1 more source
Clinical Genetics, Volume 110, Issue 3, Page 363-368, September 2026.FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley +1 more source
Special Issue: Genetics of Prader–Willi Syndrome
, 2021 This Special Issue includes 15 peer-reviewed articles for publication by experts in Prader–Willi syndrome (PWS) and their reflective area of interest impacting this rare disorder [...
David E. Godler, Merlin G. Butler
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The Impact of Fragile X Syndrome on Caregivers: A Systematic Review
Journal of Intellectual Disability Research, Volume 70, Issue 9, Page 945-961, September 2026.ABSTRACT Background The effects of fragile X syndrome (FXS) reach beyond the individual with the condition, profoundly influencing the well‐being of caregivers and family members. The aim of this review is to synthesise current evidence on the effects of FXS on caregivers, investigate contributors to their burden and identify gaps for future research ...
Katerina Poprelka +7 more
wiley +1 more source
La sindrome di Prader-Willi: edizione italiana a cura di
, 2003 Cura della traduzione e adattamento alla realtà italiana, in particolare contraddistinta da inserimento degi allievi con Prader Willi nelle classi normali e non in quelle ...
J. Waters, Vianello, Renzo
core
Psychopharmacological Treatment of Prader-Willi Syndrome [PDF]
, 2010 Prader-Willi syndrome (PWS) is a genetic disorder caused by a mutation of chromosome 15, resulting in infantile hypotonia, obesity, short stature, mild-to-moderate mental retardation and neuroendocrinological abnormalities.
Chiou, Pei-Ning, Tsai, Li-Ping
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Epigenomes, 2018 Prader-Willi Syndrome (PWS) is a neurodevelopmental disorder caused by loss of expression of the paternally inherited genes on chromosome 15q11.2-q13. However, the core features of PWS have been attributed to a critical interval (PWS-cr) within the 15q11.
Simona Zahova, Anthony R. Isles
doaj +1 more source