Results 41 to 50 of about 14,442 (216)
Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells article [PDF]
, 2018 The most common human sex chromosomal disorder is Klinefelter syndrome (KS; 47,XXY). Adult patients with KS display a diverse phenotype but are nearly always infertile, due to testicular degeneration at puberty.
Aksglaede, Lise +11 more
core +2 more sources
An Investigation of Hyperostosis Frontalis Interna in a Modern Anatomical Body Donor Population
Clinical Anatomy, EarlyView.ABSTRACT This research sought to examine the prevalence and severity of hyperostosis frontalis interna (HFI) in the Chicagoland anatomical body donor population. The study further aimed to elucidate potential demographic risk factors for HFI, including sex, age at death, and structural vulnerability index (SVI), as well as any common comorbidities, as ...
Amy C. Beresheim, Amanda Hall
wiley +1 more source
iMetaOmics, EarlyView.SPARK is an interactive platform hosting 189,232 human testicular single‐cell transcriptomes across normal and infertile conditions. It enables automated, code‐free analysis and visualization, providing a powerful resource to explore cellular and molecular dynamics in male reproduction and infertility.
Lina Cui +9 more
wiley +1 more source
The Turkish Journal of Pediatrics, 2019 Klinefelter syndrome (KS) is characterized by an additional X chromosome in males leading to a karyotype of 47,XXY. It is associated with an increased risk of certain malignancies, including leukemia, breast cancer and extragonadal germ cell tumor such ...
Derya Özyörük +5 more
doaj +1 more source
Pregnancy outcome following prenatal diagnosis of chromosomal anomaly: a record linkage study of 26,261 pregnancies [PDF]
, 2016 Previous studies have demonstrated the influence of changes in the age at which women give birth, and of developments in prenatal screening and diagnosis on the number of pregnancies diagnosed and terminated with chromosomal anomalies.
Cooper, Sally-Ann +4 more
core +1 more source
The use of deidentified organ donor testes for research
Andrology, EarlyView.Abstract Our knowledge of testis development and function mainly comes from research using mammalian model organisms, primarily the mouse. However, there are integral differences between men and other mammalian species regarding cellular composition and expression profiles during fetal and post‐natal testis development and in the mature testis ...
Marina V. Pryzhkova +4 more
wiley +1 more source
A Unique Intersection: Exploring Cerebral Anomalies in Klinefelter Syndrome [PDF]
Iranian Journal of NeonatologyBackground: Klinefelter syndrome (KS) is the most prevalent sex-chromosome aberration and the leading genetic cause of male hypogonadism. This chromosomal anomaly results in male hypergonadotropic hypogonadism, androgen deficiency, impaired ...
Aslan Ahmadi +3 more
doaj +1 more source
Molecular Cytogenetics, 2022 Background Hemophilia A is considered one of the most common severe hereditary disorders. It is an X-linked recessive disease caused by a deficiency or lack of function of the blood clotting factor VIII.
Anibal Gaviria +7 more
doaj +1 more source
Pharmacogenetics of follicle‐stimulating hormone action in the male
Andrology, EarlyView.Abstract Male factor infertility (MFI) is involved in half of the cases of couple infertility. The follicle‐stimulating hormone (FSH) therapy is considered efficient to improve semen parameters and pregnancy rate in patients with idiopathic MFI, following the lesson learned from hypogonadotropic hypogonadism.
Andrea Graziani +7 more
wiley +1 more source
Klinefelter Syndrome With Leg Ulcers
Indian Journal of Dermatology, 1999 Leg ulcers are frequently caused by venous insufficiency, arterial insufficiency, neuropathy, or a combination of these factors. Klinefelter syndrome in association with chronic leg ulcers have been reported earlier.
Narendra G +3 more
doaj