Results 81 to 90 of about 588,573 (284)
46,XY disorders of sex development (DSD)
, 2009 The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical.
MENDONCA, Berenice Bilharinho +3 more
core +1 more source
Management framework paradigms for disorders of sex development
Archives of Endocrinology and Metabolism, 2015 Until 2005, questions regarding medical treatment and diagnostic information on Disorders of Sex Development (DSD) were not systematically discussed with both the patients and their families; however, the way these patients are currently treated have ...
Mariana Telles-Silveira +2 more
doaj +1 more source
Long‐term hippocampal alterations and cognitive impairment in a murine model of surgical sepsis
FEBS Open Bio, EarlyView.Using a mouse model of surgical sepsis, we tested long‐term memory and analyzed the transcriptome of single cells isolated from the hippocampus. Survivor mice showed worse memory, loss of certain brain cell subpopulations, and abnormal immune cell activity—suggesting that post‐sepsis brain alterations may be linked to cognitive deficits.
Dong Seong Cho +4 more
wiley +1 more source
Developmental trajectories in genetic disorders
, 2011 Book synopsis: This special issue is among the first volumes to examine the topic of early development in children with neurogenetic disorders associated with intellectual disability.
Thomas, Michael S.C. +3 more
core +1 more source
FEBS Open Bio, EarlyView.Early‐life exposure to a high‐fat diet altered intact Achilles tendons in rat offspring, making them thinner, stiffer, and molecularly distinct even without injury. These findings suggest that developmental high‐fat diet exposure may impair tendon quality and increase susceptibility to mechanical overload or tendon injury later in life.
Heyong Yin +3 more
wiley +1 more source
Oligogenic Origin of Differences of Sex Development in Humans. [PDF]
, 2020 Sex development is a very complex biological event that requires the concerted collaboration of a large network of genes in a spatial and temporal correct fashion.
Audí, Laura +5 more
core +1 more source
Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development [PDF]
ClinicsOBJECTIVES: Single nucleotide variants (SNVs) are the most common type of genetic variation among humans. High-throughput sequencing methods have recently characterized millions of SNVs in several thousand individuals from various populations, most of ...
Luciana R. Montenegro +4 more
doaj +2 more sources
FEBS Open Bio, EarlyView.KIF26B plays an important role in kidney development. We engineered mice lacking the C‐terminal region of KIF26B and found severe kidney defects, including bilateral renal agenesis, similar to full Kif26b knockout mice. The mutation disrupted nephron progenitor condensation and reduced Gdnf‐Wnt11 signaling, showing that the KIF26B C‐terminal region is ...
Yuta Yamamura +19 more
wiley +1 more source
Disorders of sex development (DSD): an overview of recent scientific advances
, 2014 Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by
Conway, GS
core
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease. [PDF]
, 2019 Disorders/differences of sex development (DSD) are the result of a discordance between chromosomal, gonadal, and genital sex. DSD may be due to mutations in any of the genes involved in sex determination and development in general, as well as gonadal and/
Audí, Laura +17 more
core +1 more source