Results 51 to 60 of about 1,165,403 (129)

Prader-Willi Syndrome

, 1991
The clinical and polysomnographic features of 5 patients with Prader-Willi syndrome were studied at the Mayo Clinic, Jacksonville ...
J Gordon Millichap
core   +1 more source

Is there a role for cannabidiol in obesity, metabolic syndrome and binge eating?

British Journal of Pharmacology, EarlyView.
Cannabidiol (CBD) is one of the most abundant phytocannabinoids isolated from the Cannabis sativa plant. CBD is a lipophilic, non‐intoxicating substance that differently from Δ9‐tetrahydrocannabinol (Δ9‐THC) does not present the typical profile of a drug of abuse.
Luca Botticelli, Emanuela Micioni Di Bonaventura, Giacomo Einaudi, Gustavo Provensi, Alessia Costa, Claudio D'Addario, Carlo Cifani, Maria Vittoria Micioni Di Bonaventura   +7 more
wiley   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong‐On, Pornprot Limprasert   +3 more
wiley   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Established and Emerging Biomarkers to Characterize Persons at Risk for Obesity—Paving the Way for Targeted Clinical Intervention Trials—A Comprehensive Position Paper

Obesity Reviews, EarlyView.
ABSTRACT Despite all efforts, obesity remains a major health concern worldwide, with continuously increasing rates, affecting approx. 14% of the total world population, being as high as 43% in some countries. As obesity is related to numerous comorbidities, including type 2 diabetes, cardiovascular diseases, and some types of cancer, the consequences ...
Farhad Vahid, Victoria Stopa, Laurent Malisoux, Yvan Devaux, Elsa Lamy, Fernando Capela e Silva, Sarah Forberger, Tiziana de Magistris, Antoni Sureda, Margalida Monserrat‐Mesquida, Maria Pérez‐Jiménez, Rajini Nagrani, Maria Giovanna Onorati, Michele Filippo Fontefrancesco, Jonathan Turner, Mahesh S. Desai, Josep Tur, Cristina Bouzas, Gino Gabriel Bonetti, Oliver Riedel, Gitte Ravn‐Haren, Rikke Andersen, Torsten Bohn   +22 more
wiley   +1 more source

Early oxytocin treatment in infants with Prader–Willi syndrome is safe and is associated with better endocrine, metabolic and behavioral outcomes

Orphanet Journal of Rare Diseases
Background Oxytocin (OT) plays an important role in modulating behavior, social interactions and feeding. Prader–Willi syndrome (PWS), a rare genetic neurodevelopmental disorder, is a model of hypothalamic disorder including OT dysfunction. We previously
Marion Valette, Gwenaelle Diene, Mélanie Glattard, Julie Cortadellas, Catherine Molinas, Sandy Faye, Grégoire Benvegnu, Kader Boulanouar, Pierre Payoux, Jean-Pierre Salles, Catherine Arnaud, Sophie Çabal, Maithé Tauber   +12 more
doaj   +1 more source

Circulating microRNA signatures reveal core and reversible dysregulation in obesity via machine learning

The Journal of Physiology, EarlyView.
Abstract figure legend Machine learning analysis of circulating microRNA (miRNA) profiles identified a minimal set of biomarkers that distinguish individuals with obesity from lean individuals both before and after weight‐loss intervention. Comparative analyses revealed heterogeneous molecular responses to weight reduction, with some miRNAs showing ...
Yuan Yue, Rajesh Katare, Jeremiah Deng, Daniel Alencar Da Costa, Patrick Manning   +4 more
wiley   +1 more source

Supplementary Material for: Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings

, 2016
The small interstitial deletion in the long arm of chromosome 15 causing Prader-Willi/Angelman syndrome is well known, whereas cases that report terminal deletions in 15q in association with the Prader-Willi-like phenotype are very rare.
Dello Russo P. (3206583), Demori E. (3206586), Zoratti R. (3206577), Damante G. (3206571), Romagno D. (3206574), Sechi A. (3206589), Passon N. (3206568), Gnan C. (3206580)   +7 more
core   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2338-2344, October 2026.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source