Results 151 to 160 of about 478,719 (265)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli   +18 more
wiley   +1 more source

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar   +3 more
wiley   +1 more source

“It's Not Deterministic and It Will Never Be Deterministic”: A Qualitative Study on Stakeholder Perspectives of Polygenic Risk Score Testing for Post‐Traumatic Stress Disorder

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Post‐traumatic stress disorder (PTSD) causes significant mental and physical distress, yet only a small subset of individuals exposed to trauma develop the disorder. Scientists and clinicians are still unable to predict who will get the disorder or how it will manifest.
Brandy M. Fox
wiley   +1 more source

Women's health and chiropractic: Educational audit and development of core competencies. [PDF]

open access: yesJ Chiropr Educ
Weis CA   +9 more
europepmc   +1 more source

Social Determinants of Health and Health‐Related Quality of Life: The Potential Mediating Role of Social Activities, Access to Medical Services, and Access to Social Services

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This study explored the mediating influences of access to social activities, social services, and health and medical services on the relationship between social determinants of health and health‐related quality of life. A survey of 602 adults was conducted in a regional area of Australia.
Candice Oster   +4 more
wiley   +1 more source

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