Unravelling the Impact of an Additional Sex Chromosome in an Adult Female
Women with Triple X syndrome (TXS) appear to be at increased risk for decreased ovarian reserve; however, available data are limited. We present an asyndromic adult female with features of recurrent pregnancy loss and decreased ovarian reserve detected ...
Sigin George +3 more
doaj +1 more source
Painting of human chromosomes with probes generated from hybrid cell lines by PCR with Alu and L1 primers [PDF]
Specific amplification of human sequences of up to several kb length has recently been accomplished in man-hamster and man-mouse somatic hybrid cell DNA by IRS-PCR (interspersed repetitive sequence — polymerase chain reaction).
Cremer, Thomas +2 more
core +1 more source
This study aimed to evaluate the prognostic value of ELN2017 in predicting survival outcomes and to assess the impact of clinical and molecular factors such as age, FLT3 and NPM1 mutations, and allogeneic hematopoietic stem cell transplantation (allo‐HSCT).
Mobina Shrestha +4 more
wiley +1 more source
The lack of clear morphological markers of cotton chromosomes contributed to the development of an unconventional method for marking chromosomes using translocations. Today, tester translocation cotton lines represent the most complete set of cytological
M. F. Sanamyan, Sh. U. Bobokhujayev
doaj +1 more source
Chromosomal Aberrations in 224 Couples with Recurrent Pregnancy Loss
Background: Recurrent pregnancy loss (RPL) is a major reproductive health issue, affecting 2%–5% of couples. Genetic factors, mainly chromosomal abnormalities, are the most common cause of early miscarriage accounting for 50%–60% of first trimester ...
Ghada Mohamed Elhady +2 more
doaj +1 more source
Two-dimensional matrix algorithm using detrended fluctuation analysis to distinguish Burkitt and diffuse large B-cell lymphoma [PDF]
Copyright © 2012 Rong-Guan Yeh et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.A ...
Abbod, MF +3 more
core +3 more sources
Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang +3 more
wiley +1 more source
Comparing Lymphocyte Radiosensitivity of Prostate Cancer Patients with Healthy Donors Using Micronuclei and Chemical Premature Chromosome Condensation Tests [PDF]
Background: Cytogenetic tests are usually used for diagnosing predisposed individuals to cancer by determining their lymphocyte radiosensitivity.Objective: To determine the potential role of radiosensitivity in predisposition of prostate cancer by ...
F Golfam, B Hashemi, A Haeri, A Nikoofar
doaj +1 more source
Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
Karyotypic variation in the Andean rodent Phyllotis xanthopygus (Waterhouse, 1837) (Rodentia, Cricetidae, Sigmodontinae) [PDF]
Phyllotis xanthopygus (Waterhouse, 1837) is an Andean rodent endemic to South America. Despite its wide geographical distribution in Argentina, few individuals have been studied on the cytogenetic level and only through conventional staining.
Cuello, Pablo Andrés +8 more
core +4 more sources

