Results 321 to 330 of about 693,008 (395)

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

Causal relationship between attention deficit hyperactivity disorder and atherosclerosis: A bidirectional Mendelian randomization study. [PDF]

Medicine (Baltimore)
Hu XY, Chen GL, Yang XF, Zhang N.
europepmc   +1 more source

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek, Lauren Jenner, Abigail L. Hogan, Laura Friedman, Elizabeth Berry‐Kravis, Flora Tassone, Tatyana Adayev, Amanda J. Fairchild, Jane E. Roberts   +8 more
wiley   +1 more source

Cognitive and behavioral performance in children with epilepsy with myoclonic-atonic seizures. [PDF]

Dement Neuropsychol
Samoiloff EOR, Nakanishi DH, Miotto EC.
europepmc   +1 more source

Genomic Analysis of Trichotillomania

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trichotillomania (TTM) is a psychiatric condition in which people feel an overwhelming urge to pull out their hair, resulting in noticeable hair loss and significant distress. Twin and family studies suggest that TTM is at least partly genetic, but no genome‐wide analyses have been completed.
Matthew W. Halvorsen, Melanie E. Garrett, Michael L. Cuccaro, Allison E. Ashley‐Koch, James J. Crowley   +4 more
wiley   +1 more source

Web-Based Stress Management for Working Adults With Attention-Deficit/Hyperactivity Disorder (ADHD): Single-Arm, Open Pilot Trial. [PDF]

JMIR Form Res
Oscarsson M, Hammarbäck S, Blom Wiberg K, Rozental A, Ginsberg Y, Carlbring P, Andersson G, Jönsson F.   +7 more
europepmc   +1 more source

Correction to "Impact of the polygenic risk scores for attention-deficit/hyperactivity disorder in Alzheimer's disease". [PDF]

Alzheimers Dement
europepmc   +1 more source

The relationship between cognitive disengagement syndrome and misophonia in children with attention deficit hyperactivity disorder: the mediating role of cognitive disengagement syndrome symptoms. [PDF]

Ann Gen Psychiatry
Gercek HG, Gurbuz Ozgur B, Hayta Z, Sapanca A, Aksu H.   +4 more
europepmc   +1 more source

Association between autism spectrum disorder and intentional self-harm. [PDF]

Inj Epidemiol
Blanchard A, Chihuri S, Ing C, DiGuiseppi C, Li G.   +4 more
europepmc   +1 more source