Results 41 to 50 of about 44,278 (289)

Interactive Karyotyping Training [PDF]

Journal of Krishna Institute of Medical Sciences University, 2013
Despite the wide use of newer techniques in genetic diagnostics, there remains a need for technologists to learn human chromosome morphology, identify abnormal metaphases and report clinical abnormalities.
Ashwin Kotwaliwale
doaj  

Fragile-X Syndrome

Pediatric Neurology Briefs, 1988
A characteristic epileptogenic EEG pattern is described in five of 12 male subjects with fragile-X syndrome evaluated at the Instituto Oasi, via C. Ruggero, Troina, Italy, and Clinica Neurologica, II Universita Roma and Bologna, Italy.
J Gordon Millichap
doaj   +1 more source

Karyotype evolution of the Asterids insights from the first genome sequences of the family Cornaceae [PDF]

, 2022
Congcong Dong, Shang Wang, Han Zhang, Jianquan Liu, Minjie Li   +4 more
openalex   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Karyotype Diversity, Mode, and Tempo of the Chromosomal Evolution of Attina (Formicidae: Myrmicinae: Attini): Is There an Upper Limit to Chromosome Number? [PDF]

, 2021
Danon Clemes Cardoso, Maykon Passos Cristiano   +1 more
openalex   +1 more source

Disrupting Lipid Raft Microdomains to Block Polyploid Giant Cancer Cell Budding and Enhance Radiotherapy Response

Advanced Science, EarlyView.
Radiation induces polyploid giant cancer cells (PGCCs) that regenerate tumors through virus‐like budding. This process depends on a SNCG–FLOT2–CHMP4B signaling axis functioning in lipid raft microdomains. Disrupting these domains using statins or anti‐PCSK9 antibodies blocks PGCC budding, suppresses tumor repopulation, and enhances radiotherapy ...
Zheng Deng, Haoran Sun, Jin Cheng, Ruyi Zhao, Jianzhu Xie, Yanwei Song, Yucui Zhao, Chenwei Lin, Binjie Hu, Yanping Gong, Jun Lin, Sijia He, Yuntao Luo, Minghui Zhao, Yiwei Wang, Ming Jiao, Yuqin Yang, Jikun Li, Shujie Xia, Chuanyuan Li, Qian Huang   +20 more
wiley   +1 more source

Clinically Irrelevant Terminal 16q21 Deletion Detected by NIPT Is Attributable to Inherited Fragility at FRA16B

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genome‐wide non‐invasive prenatal testing (NIPT) is a powerful tool for prenatal detection of the common aneuploidies causing Down‐, Edwards‐, and Patau syndrome. Its genome‐wide reach also enables the detection of unbalanced structural chromosomal abnormalities.
Servi J. C. Stevens, Wanwisa van Dijk, Nicole Y. Souren, Merryn V. E. Macville, Guillaume van de Zande, Brigitte H. W. Faas, Bart de Koning, Arthur van den Wijngaard, Sonja de Munnik, Masoud Zamani Esteki   +9 more
wiley   +1 more source

Effect of Induced Polyploidy on Morphology, Antioxidant Activity, and Dissolved Sugars in Allium cepa L.

Horticulturae
The role of onion as the second most-consumed and cultivated vegetable around the world and its renowned qualities that lead it to be called the “queen of the kitchen” have positioned it as a vital source of nutritional and economic contributions around ...
Mujahid Ado Abubakar, Novitskaya Elena Gennadievna, Son Oksana Mikhailovna, Kim Ekaterina Mikhailovna   +3 more
doaj   +1 more source

Fluorescence In Situ Hybridization (FISH)-Based Karyotyping Reveals Rapid Evolution of Centromeric and Subtelomeric Repeats in Common Bean (Phaseolus vulgaris) and Relatives

G3: Genes, Genomes, Genetics, 2016
Fluorescence in situ hybridization (FISH)-based karyotyping is a powerful cytogenetics tool to study chromosome organization, behavior, and chromosome evolution.
Aiko Iwata-Otsubo, Brittany Radke, Seth Findley, Brian Abernathy, C. Eduardo Vallejos, Scott A. Jackson   +5 more
doaj   +1 more source

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds, Jeanne M. Pimenta, Andrea Low, Deepali Mittal, Smeet Gala, Digant Gupta   +5 more
wiley   +1 more source