Results 91 to 100 of about 55,696 (242)
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 +4 more
wiley +1 more source
Sleep Disorders in Klinefelter Syndrome and Other Sex Chromosome Aneuploidies: A Narrative Review
Andrology, EarlyView.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
British Journal of Haematology, EarlyView.Optical genome mapping (OGM) is feasible on fresh and frozen tissue lymphoma samples and demonstrated its added value for accurate diagnostic classification. OGM surpasses karyotype and FISH in refining diagnoses of lymphoma, identifying class‐defining rearrangements along with prognostic markers.
Coura Fall +15 more
wiley +1 more source
BJU International, EarlyView.Objective To clarify the impact of chromosomal aberrations on the offspring of patients with testicular germ cell tumour (TGCT) by evaluating the outcomes of intracytoplasmic sperm injection (ICSI). Patients and Methods Under the ethical review of Yokohama City University, 12 patients with TGCT and 25 with non‐TGCT cancer who had cryopreserved sperm ...
Haru Hamada +21 more
wiley +1 more source
Several consequences of aneuploidy
, 2015 Thesis: Ph. D., Massachusetts Institute of Technology, Department of Biology, September 2015.Cataloged from PDF version of thesis. "June 2015." Written on title page: "September 2015."Includes bibliographical references.Whole-chromosome aneuploidy, or a ...
Sheltzer, Jason (Jason Meyer)
core
Biogenesis of TNF‐α‐insights into proteostasis and inflammation
The FEBS Journal, EarlyView.TNF‐α biogenesis, trafficking, and signalling are tightly and reciprocally coupled to cellular proteostasis systems, including ER chaperones and endoplasmic reticulum‐associated degradation. This bidirectional crosstalk determines whether TNF‐α responses are adaptive or proteotoxic.
Bailasan Haidar +3 more
wiley +1 more source
International Journal of Laboratory Hematology, EarlyView.ABSTRACT Background Circadian clock disruption has emerged as a relevant axis in cancer; however, the expression patterns and diagnostic relevance of BMAL1 and CLOCK in multiple myeloma (MM) remain insufficiently defined. Methods BMAL1 and CLOCK mRNA expression was quantified by RT‐qPCR in bone marrow samples from 46 newly diagnosed MM patients and 13 ...
Hamide Albayrak +6 more
wiley +1 more source
Whole genome amplification for PGD and PND; molecular and a-CGH diagnosis
, 2009 Whole genome amplification amplifies the entire genome in a few hours from samples of minimal DNA quantities, even from single cells. This may have many applications, especially in prenatal diagnosis, PGD and PGS. The hypothesis for chapter 3 was: Can
Glentis, S.
core
Journal of Midwifery &Women's Health, EarlyView.Introduction Although providers may view the use of the noninvasive prenatal testing (NIPT) screen as an opportunity for patients to learn more about potential chromosomal variants of a fetus, research suggests that patients may view the genetic screening test primarily as an opportunity to learn about their fetus's sex chromosomes and may not ...
Erin P. Johnson +6 more
wiley +1 more source