Human gene copy number spectra analysis in congenital heart malformations [PDF]
, 2012 The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined.
Bick, David P. +13 more
core +2 more sources
LSD1 is essential for oocyte meiotic progression by regulating CDC25B expression in mice [PDF]
, 2015 Mammalian oocytes are arrested at prophase I until puberty when hormonal signals induce the resumption of meiosis I and progression to meiosis II.
Chen, T +8 more
core +1 more source
Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory [PDF]
, 2016 Objectives: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples.
De Smet, Matthias +7 more
core +2 more sources
Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [PDF]
, 2011 We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and ...
Dipple, Katrina M +3 more
core +2 more sources
Middle East Fertility Society Journal, 2022 Background Chromosomal abnormalities represent an important cause of human infertility. Little is known about the prevalence of chromosomal abnormalities among Egyptian couples with infertility.
Faeza El-Dahtory +3 more
doaj +1 more source
Pregnancy outcome following prenatal diagnosis of chromosomal anomaly: a record linkage study of 26,261 pregnancies [PDF]
, 2016 Previous studies have demonstrated the influence of changes in the age at which women give birth, and of developments in prenatal screening and diagnosis on the number of pregnancies diagnosed and terminated with chromosomal anomalies.
Cooper, Sally-Ann +4 more
core +1 more source
Genetic Features of Metachronous Esophageal Cancer Developed in Hodgkin's Lymphoma or Breast Cancer Long-Term Survivors: An Exploratory Study. [PDF]
, 2015 Background Development of novel therapeutic drugs and regimens for cancer treatment has led to improvements in patient long-term survival. This success has, however, been accompanied by the increased occurrence of second primary cancers.
Alfieri, R +11 more
core +7 more sources
Differences and homologies of chromosomal alterations within and between breast cancer cell lines: A clustering analysis [PDF]
, 2014 BACKGROUND: The MCF7 (ER+/HER2-), T47D (ER+/HER2-), BT474 (ER+/HER2+) and SKBR3 (ER-/HER2+) breast cancer cell lines are widely used in breast cancer research as paradigms of the luminal and HER2 phenotypes.
Botta, C. (Cristina) +10 more
core +1 more source
Study on Types of Chromosomal Abnormalities among Children and Adolescents in Hamadan
پژوهان, 2021 Aims: Problems caused by chromosomal abnormalities along with long-term disabilities can have devastating effects on the patient, family, health care system and society.
Fatemeh Bahreini +2 more
doaj
Haematologica, 2010 Background Acute promyelocytic leukemia is a subtype of acute myeloid leukemia characterized by the t(15;17). The incidence and prognostic significance of additional chromosomal abnormalities in acute promyelocytic leukemia is still a controversial ...
José Cervera +19 more
doaj +1 more source