Results 191 to 200 of about 101,879 (256)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Linking childhood trauma to endometriosis: evidence and implications for reproductive health screening. [PDF]

Ann Med Surg (Lond)
Irshad NUN, Atif MM, Talha M, Jaber Amin MH.   +3 more
europepmc   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Childhood trauma and anxiety symptoms among Chinese university students: the moderating and mediating roles of mindfulness. [PDF]

BMC Psychol
Chen X, Ma Y, Xiao D, Liu Y, Chen S, Xiong P.   +5 more
europepmc   +1 more source

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

American 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, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

Childhood Trauma, Coping Styles, and Mental Health in Polycystic Ovarian Syndrome. [PDF]

Behav Sci (Basel)
Schneider AN, Chin BN.
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

Associations of Childhood Trauma with Paranoia and Conspiracy Thinking Among Young Adults: Exploring the Indirect Role of Attachment Styles. [PDF]

Healthcare (Basel)
Fekih-Romdhane F, Ghorbel O, Cheour M, Harb F, Hallit S.   +4 more
europepmc   +1 more source

Validation and standardization of the Childhood Trauma Screener among Romanian children, adolescents, and college students. [PDF]

J Trauma Stress
David OA, Tomoiagă CT, Iuga IA.
europepmc   +1 more source

The relationship between childhood trauma, personality, and subjective well-being in early and late adolescence: a network analysis. [PDF]

Sci Rep
Zheng W, Zhou L, Lv X, Li J, Zhou Y.
europepmc   +1 more source