Results 181 to 190 of about 862,872 (284)

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang   +16 more
wiley   +1 more source

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh   +5 more
wiley   +1 more source

Mental Health Stigma in Psychiatric Genetics: Insights and Recommendations From the ISPG Member Survey on Stigma

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Little is known about how stigma is perceived within psychiatric genetics, a field increasingly central to public discussions about heredity, neurodiversity, and psychiatric risk. Understanding how stigma is perceived and experienced by psychiatric geneticists is important for guiding responsible communication and future stigma‐reduction ...
Anaïs B. Thijssen   +14 more
wiley   +1 more source

The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle   +3 more
wiley   +1 more source

Outline of activities of the American women's hospitals, organized in 1917 by the Medical Women's National Association

open access: yes
Brochure describing activies of the American Women's Hospitals in France, Serbia, Russia, Turkey, Republic of Armenia, Greece and the Islands of the Aegean ...

core  

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

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