Results 171 to 180 of about 148,643 (304)
ABSTRACT Introduction Direct experimental investigation of Klinefelter syndrome (KS) in patients is limited because the syndrome manifests heterogeneously and affects multiple organ systems. Studying KS therefore requires a model that captures this complexity as accurately as possible while still permitting controlled experimental manipulation ...
Fariba Saadati, Joachim Wistuba
wiley +1 more source
Impact of temperature on karyotype differences in Cynodon dactylon of different ploidy levels at different latitudes. [PDF]
Wang L +5 more
europepmc +1 more source
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 +8 more
wiley +1 more source
Karyotype-based evaluation of ovarian reserve before ovarian tissue cryopreservation in Turner syndrome patients. [PDF]
Du J +13 more
europepmc +1 more source
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 +4 more
wiley +1 more source
Additional data of cryptic species of the blind mole rat (<i>Nannospalax</i>, Rodentia) (2n = 52, NF = 84) from the Eastern Anatolia Region of Türkiye. [PDF]
Yürümez G.
europepmc +1 more source
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 +6 more
wiley +1 more source
Tracking karyotype dynamics by flow cytometry reveals de novo chromosome duplications in laboratory cultures of Macrostomum lignano. [PDF]
Mouton S, Glazenburg L, Berezikov E.
europepmc +1 more source
Sleep Disorders in Klinefelter Syndrome and Other Sex Chromosome Aneuploidies: A Narrative Review
ABSTRACT Background Sex chromosome aneuploidies (SCAs) are among the most frequent types of chromosomal aneuploidies and include Klinefelter syndrome (47,XXY and higher‐grade variants), 47,XYY syndrome, Turner syndrome (45,X), and trisomy X (47,XXX).
Roberto Paparella +3 more
wiley +1 more source
Conversation with Future Clinical Cytogeneticists: The New Frontiers. [PDF]
Ye JC, Chowdhury R, Heng HH.
europepmc +1 more source

