Results 101 to 110 of about 24,669 (243)

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

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   +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, George Mitsiakos, Paraskevi Karagianni, Ioannis Tsitouridis, Maria Kyriakidou, Nikolaos Nikolaidis   +5 more
doaj   +1 more source

Real‐world effectiveness of highly purified cannabidiol in epilepsy associated with 15q11.2‐q13.1 duplication and deletion syndromes: A multicenter study

Epilepsia Open, Volume 11, Issue 3, Page 1046-1053, June 2026.
Abstract This multicenter retrospective study evaluated the effectiveness and safety of highly purified cannabidiol (CBD) in 22 patients with 15q11.2‐q13.1 duplication or deletion syndromes (15q‐DDS), including 12 with 15q duplication syndrome (dup15q) and 10 with Angelman syndrome (AS). Median (interquartile range [IQR]) age at CBD initiation was 14.5
Emanuele Cerulli Irelli, Adolfo Mazzeo, Marco Perulli, Georgia Ramantani, Domenica Battaglia, Irene Bagnasco, Erica Cognolato, Pasquale Striano, Susanna Negrin, Alberto Danieli, Paolo Bonanni, Francesca F. Operto, Carlo Di Bonaventura, Antonietta Coppola, Alessandro Orsini   +14 more
wiley   +1 more source

Contributing Factors of Mortality in Prader-Willi Syndrome

American Journal of Medical Genetics. Part A, 2018
Prader–Willi syndrome (PWS) is a multi‐system disorder resulting from a lack of paternal gene expression in the 15q11.2‐q13 region. Using databases compiled through response questionnaires completed by families known to the Prader‐Willi Syndrome ...
J. Proffitt, K. Osann, B. McManus, V. Kimonis, Janalee Heinemann, M. Butler, D. Stevenson, J. Gold   +7 more
semanticscholar   +1 more source

The diagnosis of Prader–Willi syndrome [PDF]

Journal of Paediatrics and Child Health, 1999
Abstract: The methylation test can make the diagnosis of Prader–Willi syndrome (PWS) in approximately 99% of patients and is confirmed as a reliable, robust screening test. In a patient with PWS, methylation analysis does not provide the mechanism, for which other different genetic tests are required. Appropriate tests are available in each Australian
openaire   +2 more sources

The Effect of Low Glycemic Load Diet on Central Obesity and Lipid Related Metabolic Abnormalities in T2DM Patients Is Comparable to That of Energy‐Restricted Diet: A Randomized, Open, Parallel Controlled Study

Food Science &Nutrition, Volume 14, Issue 6, June 2026.
This graphical abstract illustrates the design and key findings of a randomized, open‐label, parallel‐controlled trial comparing two dietary maintenance strategies in newly diagnosed Type 2 diabetes mellitus (T2DM) patients after short‐term intensive insulin therapy (SIIT).
Xiuhong Lin, Chaogang Chen, Meng Ren, Chulin Huang, Diaozhu Lin, Cheng Wang, Xiaoting Lu, Xiaoyi Wang, Dan Liu, Jin Zhang, Li Yan, Mingtong Xu   +11 more
wiley   +1 more source

Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2

Biochemical Journal, 2017
Melanoma antigen L2 (MAGEL2 or MAGE-L2) is a member of the MAGE family of ubiquitin ligase regulators. It is maternally imprinted and often paternally deleted or mutated in the related neurodevelopmental syndromes, Prader-Willi Syndrome (PWS) and Schaaf ...
K. F. Tacer, P. R. Potts
semanticscholar   +1 more source

Tactile hypo‐responsivity in autism: Examining potential for diagnostic relevance

JCPP Advances, Volume 6, Issue 2, June 2026.
The study reported in this paper examined the utility of a brief tactile reactivity assessment in differentiating autistic children from those with other neurodevelopmental concerns and the association between tactile responsivity, autism symptomatology, developmental level, and adaptive skills.
Girija Kadlaskar, Rebecca McNally Keehn, Riley Rozniarek, Nina Pan Fujii, Brandon Keehn   +4 more
wiley   +1 more source

The Role of the Prader-Willi Syndrome Critical Interval for Epigenetic Regulation, Transcription and Phenotype

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

Cognitive deficits in the Snord116 deletion mouse model for Prader-Willi syndrome

Neurobiology of Learning and Memory, 2018
Prader-Willi syndrome (PWS) is an imprinted neurodevelopmental disease caused by a loss of paternal genes on chromosome 15q11-q13. It is characterized by cognitive impairments, developmental delay, sleep abnormalities, and hyperphagia often leading to ...
A. Adhikari, N. Copping, Beth Onaga, Michael C. Pride, Rochelle L. Coulson, Mu Yang, D. Yasui, J. LaSalle, J. Silverman   +8 more
semanticscholar   +1 more source