Results 191 to 200 of about 22,210,683 (294)

Limited Clinical Impact of Androgen Receptor Repeat Length (CAG and GGC) in Klinefelter Syndrome: A Multivariable Analysis

Andrology, EarlyView.
ABSTRACT Background Klinefelter syndrome (KS) is characterized by marked phenotypic heterogeneity that might be influenced by genetic modifiers, including androgen receptor (AR) repeat length (CAGn and GGCn). The clinical relevance of these repeat lengths in patients with KS before testosterone replacement therapy (TRT) remains unclear.
Andrea Graziani, Alberto Scala, Maria Santa Rocca, Cinzia Vinanzi, Giuseppe Grande, Andrea Di Nisio, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +8 more
wiley   +1 more source

Research on the effectiveness of CMA and WES results in pregnant females with US findings and normal karyotype results from conventional karyotype analysis. [PDF]

Case Rep Perinat Med
Kayapınar M, Bütün Z, Akça Salık E, Kocagil S, Susam E.   +4 more
europepmc   +1 more source

CytoGPS: a web-enabled karyotype analysis tool for cytogenetics. [PDF]

Bioinformatics, 2019
Abrams ZB, Zhang L, Abruzzo LV, Heerema NA, Li S, Dillon T, Rodriguez R, Coombes KR, Payne PRO.   +8 more
europepmc   +1 more source

The Influence of Parenting Style on Neurocognitive Development of Children With an Extra X or Y Chromosome: A Prospective 1‐Year Follow‐Up Study

Andrology, EarlyView.
ABSTRACT Background As sex chromosome trisomies (SCTs), including 47, XXX, 47, XXY, and 47, XYY, are associated with increased risk for neurodevelopmental challenges, studying SCTs may help in understanding the role of early parental caregiving in shaping neurodevelopmental phenotypes of this genetically at‐risk population.
Sophie van Rijn, Nienke Bouw, Kimberly Kuiper, Evelien Urbanus, Hanna Swaab   +4 more
wiley   +1 more source

Impact of FSHB and FSHR Genes Polymorphisms on Hormonal Profile and Sperm Retrieval Outcome in Men With Klinefelter Syndrome: A Clinical–Genetic Predictive Study

Andrology, EarlyView.
ABSTRACT Background Genetic variability within the follicle‐stimulating hormone (FSH)‐related genes might contribute to phenotypic heterogeneity in patients with Klinefelter syndrome (KS), yet its clinical impact on sperm retrieval remains unclear. Objectives To investigate the association between FSHB c.211 G > T and FSHR polymorphisms (c.2039 A > G ...
Andrea Graziani, Giuseppe Grande, Maria Santa Rocca, Massimo Iafrate, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +6 more
wiley   +1 more source

Karyotype analysis in children with idiopathic intellectual disability. [PDF]

Sudan J Paediatr, 2019
Çaksen H, Okut H, İkbal M.
europepmc   +1 more source

Loss‐of‐Function Variants in CCDC189 Cause Human Oligoasthenoteratozoospermia by Disrupting Sperm Flagellar and Acrosomal Architecture

Andrology, EarlyView.
ABSTRACT Background Oligoasthenoteratozoospermia (OAT), characterized by reduced sperm count, impaired motility, and abnormal morphology, is a major cause of male infertility with substantial genetic heterogeneity. However, the underlying genetic etiology remains unresolved in a large proportion of affected individuals.
Jianteng Zhou, Ghulam Mustafa, Tingting Lin, Jingwei Ye, Huan Zhang, Hanwei Jiang, Kexin Yang, Guoning Huang, Qinghua Shi   +8 more
wiley   +1 more source

Karyotype analysis of eight cultivated Allium species. [PDF]

J Appl Genet, 2019
Maragheh FP, Janus D, Senderowicz M, Haliloglu K, Kolano B.   +4 more
europepmc   +1 more source

Feminizing Therapy in People With Klinefelter Syndrome and Gender Incongruence: Considerations for Treatment Without Testosterone Blockers

Andrology, EarlyView.
ABSTRACT Background Klinefelter syndrome (KS; 47, XXY) usually involves male sex development and gender identity. Small studies suggest gender incongruence may be more common in KS, but feminizing gender‑affirming hormone therapy in this group has been scarcely reported.
Maaike Kroon, Tamira Klaziene Klooker, Sabine Elisabeth Hannema, Martin Den Heijer   +3 more
wiley   +1 more source

Application of karyotype analysis combined with BACs-on-Beads for prenatal diagnosis. [PDF]

Exp Ther Med, 2018
Fang Y, Wang G, Gu L, Wang J, Suo F, Gu M, Gou L.   +6 more
europepmc   +1 more source