Reproductive Biology and Endocrinology, 2023 Background The incidence of Y chromosome microdeletions varies among men with infertility across regions and ethnicities worldwide. However, comprehensive epidemiological studies on Y chromosome microdeletions in Chinese men with infertility are lacking.
Dongjia Chen +8 more
doaj +1 more source
Chromosomal Deletions in Myelodysplasia
Leukemia & Lymphoma, 1995 There are two major classes of genes implicated in human tumorigenesis, the oncogenes and the tumour suppressor genes. In haematological malignancies most emphasis has been placed upon the recurring translocations in which the juxtaposition of two gene sequences has resulted in the activation of an oncogene.
Boultwood, J, Fidler, C
openaire +3 more sources
Deletions of the derivative chromosome 9 occur at the time of the Philadelphia translocation and provide a powerful and independent prognostic indicator in chronic myeloid leukemia [PDF]
, 2001 Chronic myeloid leukemia (CML) is characterized by formation of the BCR-ABL fusion gene, usually as a consequence of the Philadelphia (Ph) translocation between chromosomes 9 and 22.
Bench, AJ +11 more
core +1 more source
Hypothyroidism and Chromosome 21 Deletion
Pediatric Neurology Briefs, 1996 A 12-year-old mentally retarded girl with a large deletion of the long arm of chromosome 21 and congenital hypothyroidism is reported from the Department of Clinical Genetics and Pediatrics, University Hospital, Uppsala, Sweden.
J Gordon Millichap
doaj +1 more source
Performance of four modern whole genome amplification methods for copy number variant detection in single cells [PDF]
, 2017 Whole genome amplification (WGA) has become an invaluable tool to perform copy number variation (CNV) detection in single, or a limited number of cells.
Cornelis, Senne +5 more
core +1 more source
Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome
Case Reports in Obstetrics and Gynecology, 2019 Background. Fetal akinesia refers to a broad spectrum of disorders with reduced or absent fetal movements. There is no established approach for prenatal diagnosis of the cause of fetal akinesia.
Masatake Toshimitsu +10 more
doaj +1 more source
Application value of NIPT for uncommon fetal chromosomal abnormalities
Molecular Cytogenetics, 2020 Objective To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities.
Lianli Yin +4 more
doaj +1 more source
A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensivity in a patient with xeroderma pigmentosum [PDF]
, 2010 Background: Radiotherapy-induced DNA double-strand breaks (DSBs) are critical cytotoxic lesions. Inherited defects in DNA DSB repair pathways lead to hypersensitivity to ionising radiation, immunodeficiency and increased cancer incidence.
Abbaszadeh, Fatemah +9 more
core +1 more source
InPhaDel: integrative shotgun and proximity-ligation sequencing to phase deletions with single nucleotide polymorphisms. [PDF]
, 2016 Phasing of single nucleotide (SNV), and structural variations into chromosome-wide haplotypes in humans has been challenging, and required either trio sequencing or restricting phasing to population-based haplotypes.
Bafna, Vineet +4 more
core +2 more sources
Genetic Requirements for Intra-Chromosomal Deletions [PDF]
, 2020 Chromosomal deletions are one of the most dangerous types of DNA damage and often arise as a result of inappropriately repaired DNA double strand breaks (DSB).
McPherson, Matthew
core