Results 241 to 250 of about 59,776 (309)

Disordered Eating Behaviors in Children and Adolescents with Type 1 Diabetes: Age-Specific Challenges and Management Insights. [PDF]

Children (Basel)
Giannakopoulos A, Kosteria I, Efthymiadou A, Kostopoulou E, Chrysanthakopoulou N, Chrysis D.   +5 more
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

A scoping review of instruments used to assess disordered eating in children and adolescents with higher weight. [PDF]

J Eat Disord
Reas DL, Nordang S, Sørebø Danielsen Y, Skjåkødegård HF, Mollandsøy SB, Shah S.   +5 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Correction to: Psychosocial correlates of disordered eating among adolescent athletes: a cross-sectional study. [PDF]

J Eat Disord
Franzoni A, Antonietti JP, Munsch S, Messerli-Bürgy N.   +3 more
europepmc   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Global athlete mental health screening: cross-cultural validity of the athlete psychological strain questionnaire. [PDF]

Front Psychol
Dragoiu TS, Furtunescu FL, Caramoci A, Stancu-Smaranda AM, Runswick OR.   +4 more
europepmc   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Assessment of sleep in older people within comprehensive geriatric assessments: a scoping review. [PDF]

Age Ageing
Organista LDAC, El Nsouli D, Lam J, Maqsood M, Alqeisi T, Feather TKL, Collins JT.   +6 more
europepmc   +1 more source

Defining the guiding principles of weight-inclusive nutrition education. [PDF]

Front Public Health
Levinson JA, Gamble J, Rose K, Garnett BR, Hinchey D, Pope L.   +5 more
europepmc   +1 more source