Articles with "chromosomal abnormalities" as a keyword



Clinical and Prognostic Significance of Additional Chromosomal Abnormalities at Diagnosis of Chronic Myeloid Leukemia

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Published in 2025 at "American Journal of Hematology"

DOI: 10.1002/ajh.27608

Abstract: The influence of t(v;22) sole, major route ACAs all (+8, n = 14; +Ph, n = 10; +19, n = 1), and -Y sole on progression-free survival. Survival curves are compared with those of patients with the standard t(9;22) translocation. Other… read more here.

Keywords: prognostic significance; clinical prognostic; significance additional; abnormalities diagnosis ... See more keywords

Sequential application of copy number variation sequencing and quantitative fluorescence polymerase chain reaction in genetic analysis of miscarriage and stillbirth.

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Published in 2023 at "Molecular genetics & genomic medicine"

DOI: 10.1002/mgg3.2187

Abstract: BACKGROUND Copy number variation sequencing (CNV-seq) could detect most chromosomal abnormalities except polyploidy, and quantitative fluorescence polymerase chain reaction (QF-PCR) is a supplementary method to CNV-seq in triploid detection. This study aimed to evaluate the… read more here.

Keywords: chromosomal abnormalities; cnv seq; seq; analysis ... See more keywords

Time-Lapse Imaging for the Detection of Chromosomal Abnormalities in Primate Preimplantation Embryos.

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Published in 2018 at "Methods in molecular biology"

DOI: 10.1007/978-1-4939-7780-2_19

Abstract: The use of time-lapse microscopic imaging has proven to be a powerful tool for the study of mitotic divisions and other cellular processes across diverse species and cell types. Although time-lapse monitoring (TLM) of human… read more here.

Keywords: embryos; time; preimplantation; chromosomal abnormalities ... See more keywords

Assessment of sperm chromosomal abnormalities using fluorescence in situ hybridization (FISH): implications for reproductive potential

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Published in 2024 at "Journal of Assisted Reproduction and Genetics"

DOI: 10.1007/s10815-024-03224-4

Abstract: Chromosomal abnormalities play an important role in male infertility, which is becoming a significant issue in human fertility. Aim of this study was to evaluate the incidence of spermatic aneuploidies and diploidies in human sperm,… read more here.

Keywords: hybridization fish; reproductive potential; fluorescence situ; situ hybridization ... See more keywords

Chromosomal abnormalities of 19,000 couples with recurrent spontaneous abortions: a multicenter study.

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Published in 2022 at "Fertility and sterility"

DOI: 10.1016/j.fertnstert.2022.01.011

Abstract: OBJECTIVE To investigate the demographic data and karyotypes of 19,000 couples who experienced recurrent spontaneous abortion (RSA). DESIGN A cross-sectional study of 19,000 couples. SETTING Five hospitals. PATIENT(S) A total of 19,000 couples experiencing RSA.… read more here.

Keywords: age; study; chromosomal abnormalities; chromosomal aberrations ... See more keywords

Prevalence of common aneuploidy in twin pregnancies

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Published in 2022 at "Journal of Human Genetics"

DOI: 10.1038/s10038-021-01001-0

Abstract: The incidence of chromosomal abnormalities in twin pregnancies is not well-studied. In this retrospective study, we investigated the frequency of chromosomal abnormalities in twin pregnancies and compared the incidence of chromosomal abnormalities in dichorionic diamniotic… read more here.

Keywords: chromosomal abnormalities; incidence chromosomal; twin pregnancies; incidence ... See more keywords

Chromosomal abnormalities of mesenchymal stromal cells in hematological malignancies

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Published in 2025 at "Oncogene"

DOI: 10.1038/s41388-025-03528-4

Abstract: Historically, hematological malignancies (HMs) and solid cancers were primarily attributed to cell-intrinsic mechanisms. However, overwhelming evidence highlights the crucial role of the tumor microenvironment in this process. Abnormalities in the bone marrow microenvironment (BMM) contribute… read more here.

Keywords: cas; mesenchymal stromal; hematological malignancies; stromal cells ... See more keywords

Clinical course of autologous recovery with chromosomal abnormalities after allogeneic hematopoietic stem cell transplantation

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Published in 2019 at "Bone Marrow Transplantation"

DOI: 10.1038/s41409-019-0765-0

Abstract: After primary graft failure following allogeneic hematopoietic stem cell transplantation, some patients experience autologous recovery of hematopoiesis without salvage transplantation. However, clinicians occasionally encounter unusual chromosomal abnormalities in recipient cells, not related to the original… read more here.

Keywords: chromosomal abnormalities; transplantation; cell transplantation; autologous recovery ... See more keywords

Retrospective study on NIPT or NIPT plus combined with ultrasound in screening fetal chromosomal abnormalities

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Published in 2025 at "Scientific Reports"

DOI: 10.1038/s41598-025-97230-w

Abstract: This retrospective study analyzed 306 pregnant women, with 182 undergoing genetic testing using NIPT plus and CMA, and 124 undergoing standard NIPT and CMA. The study aimed to compare the clinical performance of NIPT and… read more here.

Keywords: nipt plus; combined ultrasound; plus combined; study ... See more keywords

Perinatal outcomes of pregnancies with prenatally diagnosed foetal congenital heart disease

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Published in 2022 at "Journal of Obstetrics and Gynaecology"

DOI: 10.1080/01443615.2021.2000944

Abstract: Abstract We aimed to assess the types of prenatally diagnosed congenital heart disease (CHD) and their association with structural and chromosomal abnormalities and to evaluate the perinatal outcomes according to the type of the heart… read more here.

Keywords: chromosomal abnormalities; prenatally diagnosed; congenital heart; heart ... See more keywords
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The most relevant chromosomal abnormalities in the north of Rio Grande do Sul, Brazil: 26 years of cytogenetic analysis

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Published in 2019 at "Annals of Human Biology"

DOI: 10.1080/03014460.2019.1586995

Abstract: Abstract From 1992 to 2018, cytogenetic analyses were successfully performed to explore the chromosomal abnormalities of 729 patients, who utilised a pioneering counselling service in the city of Passo Fundo in the northern part of… read more here.

Keywords: cytogenetic analysis; chromosomal abnormalities; grande sul; rio grande ... See more keywords