Results 41 to 50 of about 2,432,280 (329)

Effectiveness of Chromosomal Microarray Analysis for Prenatal Diagnosis of Fetal Echogenic Intracardiac Focus: A Single-Center Experience

open access: yesInternational Journal of General Medicine, 2021
Hailong Huang,1,* Meiying Cai,1,* Linyu Liu,1,2 Liangpu Xu,1 Na Lin1 1Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian ...
Huang H, Cai M, Liu L, Xu L, Lin N
doaj  

Cytogenetic features in primary myelodysplastic syndrome Egyptian patients

open access: yesJournal of Advanced Research, 2018
Karyotype is the most important diagnostic and prognostic parameter in myelodysplastic syndromes (MDS) and is abnormal in approximately 50% of patients.
Yasser Elnahass, Lamiaa Youssif
doaj   +1 more source

Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype

open access: yesOpen Life Sciences, 2022
Chromosomal abnormality is one of the important causes of dysplasia in children. However, due to regional and ethnic differences, the reported rates of chromosomal abnormalities in patients with dysplasia vary greatly.
Miao Zong-Yu   +4 more
doaj   +1 more source

A Case of Trisomy 9 Mosaicism Confirmed by Microarray Test [PDF]

open access: yesKosin Medical Journal, 2020
Trisomy 9 mosaicism syndrome is a rare chromosomal abnormality with a high incidence of natural abortion and perinatal death. This syndrome is characterized by intrauterine growth retardation, mental retardation, craniofacial dysmorphism including a ...
Park Chang-Eon   +3 more
doaj   +1 more source

Chromosome Abnormalities

open access: yesVeterinary Clinics of North America: Food Animal Practice, 1993
Chromosome abnormalities have been described in food animals since 1964. Some are self-limiting because they cause sterility or other developmental defects incompatible with normal growth and development, making them unacceptable for production systems.
openaire   +2 more sources

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

open access: yesMolecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Heterozygous loss‐of‐function alleles associate the conserved 3′‐5′ exoribonuclease EXOSC10 with hypersensitivity to the anticancer drug 5‐fluorouracil

open access: yesMolecular Oncology, EarlyView.
EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain   +10 more
wiley   +1 more source

Transcriptional profiling of circulating extracellular vesicles from prebiopsy prostate cancer patients

open access: yesMolecular Oncology, EarlyView.
RNA profiling of circulating extracellular vesicles (EVs) from blood samples of men undergoing prostate biopsy identifies transcripts associated with clinically significant prostate cancer. Integrative analysis with public tumor datasets links EV‐derived gene signatures to tumor stage and progression‐free survival, highlighting CASP3, XRCC2, and RIT1 ...
Stefan Werner   +14 more
wiley   +1 more source

Chromosomal abnormalities and psychosis [PDF]

open access: yesBritish Journal of Psychiatry, 2006
SummaryThe search for susceptibility genes for schizophrenia and severe affective disorder has been enhanced by the study of cytogenetic abnormalities that disrupt genes directly. One such gene is DISCI and there is increasing evidence that it may be an important modulator of risk of psychosis.
Muir, Walter J.   +2 more
openaire   +4 more sources

Clinical performance of the urine‐based TERT promoter AbsoluteQ Digital PCR for non‐invasive detection of bladder cancer

open access: yesMolecular Oncology, EarlyView.
A urine‐based digital PCR assay targeting two hotspot TERT promoter variants detected bladder cancer with high sensitivity and no false positives in this case–control cohort. The streamlined AbsoluteQ workflow outperformed Sanger sequencing and supports non‐invasive molecular testing for bladder cancer detection.
Anna Nykel   +12 more
wiley   +1 more source

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