Results 121 to 130 of about 497,572 (262)

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman   +15 more
wiley   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro   +5 more
wiley   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera   +15 more
wiley   +1 more source

A preclinical mouse model mimicking the ovarian cancer‐induced estrogen deficiency‐depression axis

open access: yesAnimal Models and Experimental Medicine, EarlyView.
A preclinical mouse model of ovarian cancer–related depression was developed by combining intraperitoneal tumor cell injection, ovariectomy, and chronic restraint stress. The model replicates key clinical features including estrogen deficiency, depressive‐like behaviors, and tumor progression, and provides a reliable tool for studying the endocrine ...
Jiamin Liu   +6 more
wiley   +1 more source

Correction: Efficacy of dual triggering in poor ovarian responders defined according to Bologna and POSEIDON criteria: a systematic review with meta-analysis. [PDF]

open access: yesJ Assist Reprod Genet
Mercorio A   +9 more
europepmc   +1 more source

Clotrimazole‐loaded PLGA microparticles for local drug delivery to the vagina: Shape does matter

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Clotrimazole‐loaded PLGA microparticles for intravaginal delivery. Abstract Background Intravaginal drug administration is the most promising strategy for treating vaginal infections to protect women's health, such as vulvovaginal candidiasis (VVC). However, conventional vaginal formulations in the clinic face challenges such as drug leakage and low ...
Yanyu Li   +8 more
wiley   +1 more source

Home - About - Disclaimer - Privacy