Results 271 to 280 of about 1,035,047 (359)

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini   +8 more
wiley   +1 more source

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis   +8 more
wiley   +1 more source

Bladder cancer variants share aggressive features including a CA125+ cell state and targetable TM4SF1 expression. [PDF]

open access: yesNat Commun
Yang H   +18 more
europepmc   +1 more source

Animal models of cisplatin‐induced neuropathic pain

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This article illustrates the modeling process of a cisplatin‐induced neuropathic pain model in rats or mice. Multiple modeling tests are required for rats or mice before, during, and after modeling. The appropriate injection method, dose, and modeling method are selected, and multiple assays are chosen for evaluation and comparison.
Ningxin Li   +9 more
wiley   +1 more source

Home - About - Disclaimer - Privacy