Results 151 to 160 of about 796,715 (305)

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira   +11 more
wiley   +1 more source

Equitable inclusion of people with disabilities in clinical trials: a scoping review. [PDF]

BMJ Open
Jo G, Castro F, Cerilli C, Varadaraj V, Rosman L, Kamenov K, Barrett D, Swenor B.   +7 more
europepmc   +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

American 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

Homicides among people with disabilities, United States, 2003-2022. [PDF]

Inj Epidemiol
Wilson RF, Harrison DD, Amoakohene E, Lyons BH.   +3 more
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Long-Term Mortality After Tuberculosis Among People With Disabilities in Korea. [PDF]

J Korean Med Sci
Min J, Kim SY, Park JE, Kim YY, Yang HS, Park BH, Jeon SW, Kim YJ, Yang B, Yeob KE, Park JH.   +10 more
europepmc   +1 more source

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

American 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, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Extreme weather and sanitation in Bangladesh: a mixed-methods study of lived experiences of people with disabilities. [PDF]

Lancet Reg Health Southeast Asia
Nawaz S, Wilbur J, Upoma TA, Tabassum KF, Goshami A, Podder B, Akter J, Hasan M, D'Mello-Guyett L, Shoaib DM, Ruuska D, Banks LM, Kovats S, Chen S, Alam MU.   +14 more
europepmc   +1 more source

Evidence of State-Level Variability in the Economic and Demographic Well-Being of People with Disabilities in India [PDF]

Among countries with comparable levels of income, India has one of the more progressive disability policy frameworks; however, people with disabilities in India are subject to multiple disadvantages.
Menon, Nidhiya, Parish, Susan L., Rose, Roderick A.   +2 more
core  

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source