Results 81 to 90 of about 18,812 (235)
, 2017 Detection rate and false positive rate for microdeletion and microduplication of artificially affected samples.
Kyriakos Tsangaras (585075) +10 more
core +1 more source
Role of testicular fine‐needle aspiration in the modern male reproductive urologist′s practice
UroPrecision, EarlyView.Abstract Background Azoospermia affects 10%–15% of infertile men, with non‐obstructive azoospermia (NOA) most often managed by microdissection testicular sperm extraction (mTESE). Despite AUA/ASRM guidelines recommending mTESE, some urologists employ testicular fine‐needle aspiration (TFNA) mapping as a diagnostic adjunct.
Parth Joshi +3 more
wiley +1 more source
A novel familial 9q31.2q32 microdeletion: muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature [PDF]
, 2019 We report a novel 9q31.2q32 (chr9: 109195179-113974353, hg 18) microdeletion characterized by fatigue, muscle cramps, short stature, delayed puberty, sensorineural hearing loss, and mild developmental delay.
Ramineni, Anand K. +8 more
core +1 more source
Andrology, EarlyView.ABSTRACT Background The Klinefelter syndrome is a common genetic cause of male infertility, and testicular sperm extraction (TESE) enables sperm retrieval in a subset of affected patients. However, predicting TESE success remains challenging due to the heterogeneous clinical and endocrinological presentation of the Klinefelter syndrome.
Murat Gül +14 more
wiley +1 more source
The significance of the parental origin of the affected chromosome in the development of microdeletion syndromes [PDF]
, 2014 Microdeletion syndromes are complex diseases caused by loss of genetic information resulting from cryptic deletions which are smaller than 5 Mb. They are cause a large number of phenotypic features.
Rašpličková, Tereza
core
Andrology, EarlyView.ABSTRACT Background Metabolic health plays a critical role in maintaining male fertility and may influence offspring health. Therefore, it is necessary to incorporate metabolic indicators into the clinical assessment of male fertility. However, the relationships between different metabolic abnormalities and semen quality remain incompletely understood.
Rubing Hu +4 more
wiley +1 more source
3q26.33-3q27.2 microdeletion: A new microdeletion syndrome?
We describe three unrelated patients of European descent carrying an overlapping 3q26.33-3q27.2 microdeletion who share common clinical features: neonatal hypotonia, severe feeding problems, specific facial features, abnormal dentition, recurrent upper ...
Faravelli F +11 more
core +2 more sources
Molecular Genetics & Genomic Medicine, 2019 Background 20p13 microdeletion syndrome has been reported to be associated with developmental delays, intellectual disability, epilepsy, and unspecific dysmorphic characteristics.
Hung‐Hsiang Fang +5 more
doaj +1 more source
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor
Frontiers in Molecular Neuroscience, 2020 Multiple TREX mRNA export complex subunits (e.g., THOC1, THOC2, THOC5, THOC6, THOC7) have now been implicated in neurodevelopmental disorders (NDDs), neurodegeneration and cancer. We previously implicated missense and splicing-defective THOC2 variants in
Raman Kumar +36 more
doaj +1 more source
Andrology, EarlyView.ABSTRACT Background A large number of children have been born using testicular sperm from men with Klinefelter syndrome (KS), whereas reports of children conceived using ejaculated sperm are rare. Objective To review all published cases of children conceived using ejaculated sperm from men with KS, assess their health and karyotype, and evaluate ...
Jens Fedder, Freja Sørensen
wiley +1 more source