Results 21 to 30 of about 222,747 (199)

Predictive value of aberrant right subclavian artery for fetal chromosome aneuploidy in women of advanced maternal age

BMC Pregnancy and Childbirth, 2021
Background In the entire population, an aberrant right subclavian artery (ARSA) is closely associated with chromosomal abnormalities. ARSA with additional ultrasonic findings would increase risk of chromosomal abnormalities. The risk of fetal chromosomal
Li-Ping Chen, Yong-Feng Lai, Xiao-Hong Zhong, Jian-Hong You, Jiang-Hua Chen, Jing-Xian Xie, Xiao-Kang Chen, Xiao-Yan Chen, Guo-Rong Lyu   +8 more
doaj   +1 more source

Rare chromosomal abnormalities: Can they be identified using conventional first trimester combined screening methods?

European Journal of Obstetrics & Gynecology and Reproductive Biology: X, 2021
Objective: To evaluate the performance of first trimester combined screening for the detection of rare chromosomal abnormalities, other than Trisomies 21, 18 or 13 or 45 × . Study design: A database containing 36,254 pregnancies was analyzed.
Daniel Kane, Mary E. D’Alton, Fergal D. Malone   +2 more
doaj   +1 more source

Cytogenetic findings in patients with intellectual disability and/or multiple congenital anomalies [PDF]

Journal of Analytical Research in Clinical Medicine, 2016
Introduction: Chromosomal abnormalities are a major etiology of intellectual disability (ID) and multiple congenital anomalies (MCAs). Screening for chromosomal aberrations by clinical diagnostic techniques has been primarily performed ...
Sima Derakhshan, Mahmoud Khaniani
doaj   +1 more source

A case–control study identifying the frequency and spectrum of chromosomal anomalies and variants in a cohort of 1000 couples with a known history of recurrent pregnancy loss in the Eastern region of India

Journal of Human Reproductive Sciences, 2021
Background: Recurrent pregnancy loss (RPL) is a common occurrence that affects up to 15% of couples in their reproductive years. In both males and females with RPL and infertility, chromosomal abnormalities play a significant impact.
Abhik Chakraborty, Sujata Kar, Purna Chandra Mohapatra, Birendranath Banerjee   +3 more
doaj   +1 more source

Chromosomal instability in Streptomyces avermitilis: major deletion in the central region and stable circularized chromosome

BMC Microbiology, 2010
Background The chromosome of Streptomyces has been shown to be unstable, frequently undergoing gross chromosomal rearrangements. However, the mechanisms underlying this phenomenon remain unclear, with previous studies focused on two chromosomal ends as ...
Wen Ying, Chen Zhi, Zhang Xiaojuan, He Fei, Chen Wei, Li Jilun   +5 more
doaj   +1 more source

Analysis of high risk factors for chromosomal aberrations in peripheral blood lymphocytes of 200 radiation workers in Hainan Province

Shanghai yufang yixue, 2023
ObjectiveTo investigate the current status and high-risk factors of chromosomal aberrations in peripheral blood lymphocytes （PBL） of radiation workers in Hainan Province.MethodsA total of 200 radiological workers who underwent occupational health ...
ZHANG Yuhong, GU Yong, WU Qingshan, GAN Xiaofang, LIN Li, ZHANG Zhuangu   +5 more
doaj   +1 more source

Chromosomal Speciation Revisited: Modes of Diversification in Australian Morabine Grasshoppers (Vandiemenella, viatica Species Group)

Insects, 2011
Chromosomal rearrangements can alter the rate and patterns of gene flow within or between species through a reduction in the fitness of chromosomal hybrids or by reducing recombination rates in rearranged areas of the genome.
Steven J. B. Cooper, Takeshi Kawakami, Roger K. Butlin   +2 more
doaj   +1 more source

Chromosomal deletions detected at amniocentesis

Taiwanese Journal of Obstetrics & Gynecology, 2014
Objective: The aim of this study is to present the incidence, prenatal and postnatal findings, and modes of ascertainment in chromosomal deletions detected at amniocentesis.
Chen-Ju Lin, Chih-Ping Chen, Shu-Chin Chien, Chen-Chi Lee, Dai-Dyi Town, Wen-Lin Chen, Li-Feng Chen, Meng-Shan Lee, Chen-Wen Pan, Ku-Chien Lin, Tze-Tien Yeh   +10 more
doaj   +1 more source

Plasmodium falciparum gametogenesis essential protein 1 (GEP1) is a transmission‐blocking target

FEBS Letters, EarlyView.
This study shows Plasmodium falciparum GEP1 is vital for activating sexual stages of malarial parasites even independently of a mosquito factor. Knockout parasites completely fail gamete formation even when a phosphodiesterase inhibitor is added. Two single‐nucleotide polymorphisms (V241L and S263P) are found in 12%–20% of field samples.
Frederik Huppertz, Milagros Siebeck Caturelli, Lina S. Lehmann, Florian Kurth, Alexander G. Maier, Kai Matuschewski   +5 more
wiley   +1 more source

Rad27/FEN1 prevents accumulation of Okazaki fragments and ribosomal DNA copy number changes

FEBS Letters, EarlyView.
The budding yeast Rad27 is a structure‐specific endonuclease. Here, the authors reveal that Rad27 is crucial for maintaining the stability of the ribosomal RNA gene (rDNA) region. Rad27 deficiency leads to the accumulation of Okazaki fragments and changes in rDNA copy number.
Tsugumi Yamaji, Yuko Katayama, Nanase Arata, Mariko Sasaki   +3 more
wiley   +1 more source