Results 81 to 90 of about 24,669 (243)

Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci

Cell Proliferation, Volume 59, Issue 6, June 2026.
To identify novel imprinted genes, parthenogenetic, androgenetic and biparental human embryonic stem cells and their differentiated neural progenitors were analysed by methylome and transcriptome profiling. This approach uncovered 12 putative novel imprinted genes, including a clustered region on chromosome 19, expanding the current catalogue of ...
Shay Kinreich, Nissim Benvenisty
wiley   +1 more source

Malignant otitis externa in a 21-year-old male patient with Prader–Willi syndrome

SAGE Open Medical Case Reports, 2019
Malignant otitis externa is an invasive infection of the external auditory canal and temporal bone with potentially life-threatening complications. Elderly patients with type 2 diabetes mellitus are the population most commonly affected by malignant ...
Marcos Frata Rihl, Felipe Marchiori Bau, Igor de Oliveira, Manoela Astolfi Vivan, Roseane Cardoso Marchiori   +4 more
doaj   +1 more source

Intranasal carbetocin reduces hyperphagia in individuals with Prader-Willi syndrome.

JCI Insight, 2018
BACKGROUND Prader-Willi syndrome (PWS) is a genetic neurodevelopmental disorder of life-threatening hyperphagia, obesity, intellectual deficits, compulsivity, and other behavioral problems. The efficacy and safety of i.n.
E. Dykens, Jennifer L Miller, M. Angulo, E. Roof, M. Reidy, H. Hatoum, R. Willey, Guy Bolton, P. Korner   +8 more
semanticscholar   +1 more source

Involvement in daily life activities from the perspectives of children and young people with childhood‐onset disabilities: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
This scoping review aimed to understand the construct ‘involvement’ in daily life activities from the perspective of children and young people with childhood‐onset disabilities. We identified six conceptual ideas, including a continuum of inner dedication or investment in‐the‐moment, and five others reflecting how children and young people process ...
Vera C Kaelin, Kinga Quaaden, Helena Lindgren, Mats Granlund, Christine Imms   +4 more
wiley   +1 more source

French database of children and adolescents with Prader-Willi syndrome

BMC Medical Genetics, 2008
Background Prader-Willi syndrome (PWS) is a rare multisystem genetic disease leading to severe complications mainly related to obesity. We strongly lack information on the natural history of this complex disease and on what factors are involved in its ...
Arnaud Catherine, Glattard Melanie, Diene Gwenaelle, Cazals Laurent, Molinas Catherine, Tauber Maithe   +5 more
doaj   +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

Gingival and Periodontal Diseases and Conditions in Children and Adolescents: Consensus Report

Journal of Clinical Periodontology, EarlyView.
ABSTRACT Background The objectives of this Focused Workshop were to update the epidemiology, aetiology, risk factors, diagnosis and management of gingival and periodontal diseases and conditions in children and adolescents, and to explore the applicability of the 2018 Classification in children and adolescents.
Iain Chapple, Sotiria Gizani, Mariano Sanz, Dominique Declerck, Phoebus Madianos, Valerie Clerehugh, Monique Danser, Esti Davidovich, Janet Davies, Nikos Donos, Elisabeth Dursun, Elena Figuero, Filippo Graziani, Mervi Gursoy, Soren Jepsen, Clara Joseph, Moritz Kebschull, Norbert Kraemer, Tina Lambrinaki, Rodrigo López, David J. Manton, Joerg Meyle, Ana Molina, Lior Shapira, Cheryl Somani, Georgios Tsilingaridis, Svante Twetman, Nicola West, Biniyam Wondimu, Ferranti Wong, David Herrera   +30 more
wiley   +1 more source

Prader-Willi Syndrome

JAMA, 1983
Through 12 long years, my wife and I struggled with the perplexity of our youngest daughter's disorder. Consultation after consultation and examinations by pediatricians, psychiatrists, neurologists, and family physicians yielded little more than a collage of symptoms, or a more truthful "We really don't know what the problem is." Even a university ...
openaire   +2 more sources

Autonomic Function in Fragile X Syndrome: A Systematic Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Fragile X syndrome (FXS) is a monogenic X‐linked cause of intellectual disability and autism. Individuals with FXS often have high levels of anxiety and sometimes display challenging behaviours. Autonomic dysfunction has been suggested to be one physiological mechanism that may contribute to these.
Sydni Weissgold, Sarah E. A. Eley, Damien Wright, Andrew G. McKechanie, Andrew C. Stanfield   +4 more
wiley   +1 more source

Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: a randomized, double-blind, placebo-controlled trial

Diabetes, obesity and metabolism, 2017
There are no treatments for the extreme hyperphagia and obesity in Prader–Willi syndrome (PWS). The bestPWS clinical trial assessed the efficacy, safety and tolerability of the methionine aminopeptidase 2 (MetAP2) inhibitor, beloranib.
S. McCandless, J. Yanovski, Jennifer L Miller, Cary Fu, L. Bird, P. Salehi, Christine L. Chan, D. Stafford, M. Abuzzahab, D. Viskochil, S. Barlow, M. Angulo, S. Myers, B. Whitman, Dennis Styne, E. Roof, E. Dykens, A. Scheimann, Jaret Malloy, Dongliang Zhuang, K. Taylor, T. Hughes, Dennis D. Kim, M. Butler   +23 more
semanticscholar   +1 more source