Results 131 to 140 of about 2,143,328 (347)

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source

THE PROGNOSIS OF ADOLESCENT INSANITY. [PDF]

, 1905
T. S. Clouston
openalex   +1 more source

Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain ...
Ciara Cassidy, Arlene Mannion, Sally Whelan, Megan Tones, Helen Heussler, Matthew Bellgard, Geraldine Leader   +6 more
wiley   +1 more source

A RECORD OF THE COMMON SORETHROATS OCCURRING AMONGST 400 ADOLESCENTS DURING A PERIOD OF TWENTY-FIVE YEARS. [PDF]

, 1896
Christopher W. Dukes
openalex   +1 more source

The effects of social deprivation on adolescent development and mental health

The Lancet Child & Adolescent Health, 2020
Amy C. Orben, L. Tomova, S. Blakemore
semanticscholar   +1 more source

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

Study Protocol: Pegasus: psychotherapy incorporating horses for ‘therapy-resistant’ adolescents with autism spectrum disorders, a study with series of randomised, baseline controlled n-of-1 trials

BMC Psychiatry
Background For people with autism spectrum disorder (ASD), daily life can be highly stressful with many unpredictable events that can evoke emotion dysregulation (ED): a strong difficulty with appropriately negative affect regulation.
Jenny C. den Boer, Helen Klip, Anita Blonk, Monique Lenselink, Shireen P.T. Kaijdoe, Melanie Tielkes, Amber van Zandbeek, Gerdine Bres, Mandy Herinx, Wouter G. Staal, Nanda Rommelse   +10 more
doaj   +1 more source

Natural interests of adolescents [PDF]

, 1911
William Albert Wilkinson
openalex   +1 more source

A Social Neuroscience Perspective on Adolescent Risk-Taking.

Developmental Review, 2008
L. Steinberg
semanticscholar   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source