Results 51 to 60 of about 154,338 (261)

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

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

Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +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

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

Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 more
wiley   +1 more source

In silico characterization of chromosomally integrated blaCTX-M genes among clinical Enterobacteriaceae in Africa: insights from whole-genome analysis

Frontiers in Microbiology
Antimicrobial resistance (AMR) mediated by extended-spectrum β-lactamases (ESBLs) is a growing global concern, particularly among Enterobacteriaceae. The CTX-M-type ESBLs, encoded by the blaCTX-M gene, are of significant public health importance due to ...
Misheck Shawa, Misheck Shawa, Herman Chambaro, Harvey K. Kamboyi, Clement Sulwe, Joseph Y. Chizimu, Situmbeko J. Nasilele, Shohei Ogata, Shohei Ogata, Mulemba Samutela, Tuvshinzaya Zorigt, Steward Mudenda, Manyando Simbotwe, Mwamba Nsofwa, Jedidiah Chanda, Freeman Chabala, Mike Nundwe, Mike Nundwe, Joseph Ndebe, Msangwa Sinjani, Kyoko Hayashida, Kyoko Hayashida, Naganori Nao, Naganori Nao, Naganori Nao, Roma Chilengi, Hirofumi Sawa, Hirofumi Sawa, Hirofumi Sawa, Hirofumi Sawa, Hirofumi Sawa, Hirofumi Sawa, Hirofumi Sawa, Yasuhiko Suzuki, Yasuhiko Suzuki, Bernard Hang'ombe, Bernard Hang'ombe, Masahiro Kajihara, Masahiro Kajihara, Masahiro Kajihara, Hideaki Higashi, Hideaki Higashi   +41 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

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Per aspera ad astra: When harmful chromosomal translocations become a plus value in genetic evolution. Lessons from Saccharomyces cerevisiae [PDF]

, 2015
In this review we will focus on chromosomal translocations (either spontaneous or induced) in budding yeast. Indeed, very few organisms tolerate so well aneuploidy like Saccharomyces, allowing in depth studies on chromosomal numerical ...
Valentina Tosato, Carlo V. Bruschi
core   +1 more source