Results 91 to 100 of about 15,040 (204)

Genotypic and Phenotypic Profile of 50 Cases With Chromatin Remodeling Complexes‐Related Neurological Disorders

open access: yesCNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
CRC‐related neurological disorders are mainly caused by variants in the CHD and BAF complex. The predominant phenotypes of CRC‐related neurological disorders were GDD/ID and epilepsy. Variants in the CHD and BAF complexes have different phenotypes.
Shimeng Chen   +9 more
wiley   +1 more source

Industrial Hydrocarbons Exposure Deteriorates Sperm Integrity and Reproductive Function

open access: yesJournal of Biochemical and Molecular Toxicology, Volume 40, Issue 8, August 2026.
ABSTRACT Occupational exposure to polycyclic aromatic hydrocarbons (PAHs) or metal fumes in the workplace may be detrimental to male fertility. The present study compared sperm concentration, total motility, strict morphology and oxidative stress and SDF levels between 81 men, controls (n = 17) and workers from plastic industry workers (n = 18), steel ...
Madhan Kumar Pichandi   +2 more
wiley   +1 more source

Unilateral ductus deferens aplasia with terminal cystic dilation in a Bernese mountain dog

open access: yesVeterinary Record Case Reports, Volume 14, Issue 3, August 2026.
Abstract An incidental caudal abdominal mass was discovered in a 5‐year‐old, male, entire Bernese mountain dog. Investigations showed a terminal cystic dilation of the left ductus deferens. Castration, along with surgical resection of the mass, was performed, and histopathology of the mass and ductus deferens was consistent with segmental aplasia of ...
Daisy Johnson   +3 more
wiley   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

open access: yesClinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw   +30 more
wiley   +1 more source

Physiological and Behavioural Characterisation of a Novel Steroid Sulfatase‐Deficient Mouse

open access: yesGenes, Brain and Behavior, Volume 25, Issue 4, August 2026.
STS‐deficient mice are grossly healthy and breed as expected, but are mildly hyperactive and have heavier hearts compared with sex‐matched wildtype controls. ABSTRACT Steroid sulfatase (STS) cleaves sulphate groups from steroid hormones. In humans, STS deficiency is associated with X‐linked ichthyosis, an increased predisposition to neurodevelopmental ...
Trevor Humby   +7 more
wiley   +1 more source

Evaluation of low-dose hCG treatment for cryptorchidism

open access: yesThe Turkish Journal of Pediatrics, 2006
The aim of this study was to evaluate the efficiency of low-dose hCG (human chorionic gonadotropin) (500 IU/week for 3 weeks) in the treatment of cryptorchidism and in the assessment of Leydig cell functions.
Zehra Aycan   +4 more
doaj  

Microdissection testicular sperm extraction outcomes in azoospermic patients post-orchidopexy surgery: A systematic review and meta-analysis.

open access: yesPLoS ONE
Cryptorchidism is a common cause of male infertility, often necessitating microdissection testicular sperm extraction (m-TESE) for sperm retrieval post-surgery.
Hao-Nan He   +5 more
doaj   +1 more source

Cryptorchidism

open access: yesJournal of British Surgery, 1989
openaire   +2 more sources

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