Results 1 to 10 of about 17,094 (197)
Xq24/IL13RA1 aberrations as key drivers of female bias in primary mediastinal large B‐cell lymphoma [PDF]
HemaSphereFemale‐biased incidence in primary mediastinal large B‐cell lymphoma (PMBCL) is enigmatic and points to a potential contribution of the X chromosome in this disease.
Lukas Marcelis +17 more
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Prenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq [PDF]
BMC Pregnancy and ChildbirthBackground The aim of this study was to investigate the detection capability of medium-coverage whole-genome sequencing for chromosomal mosaicism in prenatal diagnosis, and to evaluate the pregnancy outcome of mosaicism.
Jiazhen Chang +7 more
doaj +2 more sources
Toxics, 2022 Ionizing radiation is a well-known carcinogen that causes genomic instability. However, the biological and carcinogenetic effects of occupational radiation exposure at low doses have not been extensively studied.
Yang Jee Kim +5 more
doaj +1 more source
Aberrations of chromosome 8 in myelodysplastic syndromes: Clinical and biological significance [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2006 Introduction: Rearrangements of any single chromosome in human karyotype have been reported in patients with pMDS. Objective: To examine the role of aberrations of chromosome 8 in pathogenesis, clinical presentation and progression of myelodysplastic ...
Marisavljević Dragomir +3 more
doaj +1 more source
Asian Journal of Andrology, 2020 Chromosomal abnormalities and Y chromosome microdeletions are considered to be the two more common genetic causes of spermatogenic failure. However, the relationship between chromosomal aberrations and Y chromosome microdeletions is still unclear.
Hong-Ge Li +6 more
doaj +1 more source
Turner Syndrome with Mosaicism of X Chromosome: A Case Report
Journal of Nepal Medical Association, 2023 Turners’ syndrome, although common, is a complex syndrome that requires a multidisciplinary team to manage it. If undiagnosed prenatally or in childhood, Turners’ syndrome females often present later to gynaecologists with premature ovarian ...
Priyanka Vaidya, Achala Vaidya
doaj +1 more source
Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings
Animals, 2021 Clinical cytogenetic studies in horses have been ongoing for over half a century and clearly demonstrate that chromosomal disorders are among the most common non-infectious causes of decreased fertility, infertility, and congenital defects.
Monika Bugno-Poniewierska +1 more
doaj +1 more source
Analysis of Y chromosome microdeletions and CFTR gene mutations as genetic markers of infertility in Serbian men [PDF]
Vojnosanitetski Pregled, 2007 Background/Aim. Impaired fertility of a male partner is the main cause of infertility in up to one half of all infertile couples. At the genetic level, male infertility can be caused by chromosome aberrations or gene mutations.
Dinić Jelena +5 more
doaj +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2006 Objective: To retrospectively investigate the 10-year experience of prenatal diagnosis of fetal chromosome aberrations by second-trimester amniocentesis.
Jenn-Jhy Tseng +5 more
doaj +1 more source
Pediatria Polska, 2022 Sex chromosome aneuploidies (SCAs) are common chromosomal disorders characterised by an atypical number of sex chromosomes. Turner syndrome (TS), Klinefelter syndrome (KS), and Jacobs syndrome (JS) are associated with a wide spectrum of skeletal ...
Dawid Gruszczyński +3 more
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