Results 1 to 10 of about 19,176 (234)
Case Report: Prenatal diagnosis of 10 fetuses with 15q11-q13 duplication and pregnancy outcome in a cohort of Chinese women [PDF]
Frontiers in NeuroscienceThe chromosome 15q11-q13 duplication (dup15q) is defined as the presence of three or more copies of 15q11.2-q13.1. The features of the chromosome 15q11-q13 duplication syndrome include developmental delay, intellectual disability, hypotonia, facial ...
Ke Wu, Xiao Li, Hongmei Zhou, Yan Cong
exaly +4 more sources
t(11;22)(q13;q13) HRASLS5/PHF21B [PDF]
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2017 Review on t(11;22)(q13;q13), with data on clinics, and the genes involved.
Nathalie Douet-Guilbert +2 more
exaly +3 more sources
A rare case of acute myeloid leukemia with t(12;19)(q13;q13)
Leukemia Research Reports, 2020 Acute myeloid leukemia (AML) is characterized by chromosomal abnormalities affecting both prognosis and course of treatment. While most AML patients have well described chromosomal aberrations, around 10% present with rare chromosomal abnormalities.We ...
Alain Chebly +8 more
doaj +3 more sources
A case of 15q11‐q13 duplication syndrome and literature review
Brain and Behavior, 2021 Background The chromosomal 15q11‐q13 regions are structurally complex, and their abnormalities are associated with various neuropsychiatric disorders, including autism spectrum disorder (ASD), epilepsy, Angelman syndrome, and Prader–Willi syndrome.
Guang-Lu Yang
exaly +2 more sources
Genetic analysis and prenatal diagnosis of 15q11-q13 microduplication syndrome
Journal of Maternal-Fetal and Neonatal MedicineObjective 15q11-q13 microduplication syndrome, a genetic disorder caused by duplications in the 15q11-q13 region, has been associated with autism spectrum disorder (ASD); however, research on chromosome 15 microduplications is scarce.
Yijing Ma +4 more
exaly +3 more sources
Molecular genetic characterization of myeloid neoplasms with idic(X)(q13) and i(X)(q10)
Frontiers in OncologyBackground/AimIsodicentric [idic(X)(q13)] and isochromosome [i(X)(q10)] are infrequent aberrations in neoplastic diseases. The former is mainly reported in elderly women with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), whereas the ...
Marta Brunetti +2 more
exaly +3 more sources
Price discovery and market efficiency of cardamom in India [PDF]
Vilakshan (XIMB Journal of Management), 2022 Purpose – Transparent and fair price discovery is essential to commodity market participants in the trade value chain for competitive benefit. The purpose of this paper is to investigate the price discovery of Indian cardamom at e-auction, spot and ...
A.N. Vijayakumar
doaj +1 more source
Analysis of 2 men with t(8;22)(q13;q13) and t(8;14)(q13;q22) chromosomal translocation karyotypes
Medicine, 2022 Male infertility is a multifactorial condition that is closely associated with chromosomal abnormalities. Reciprocal chromosomal translocation (RCT) is a significant structural genetic abnormality. The specific mechanisms of forms of RCT affecting male infertility include the product of chromosomally unbalanced gametes, thereby disrupting the structure
Qijia Sun +5 more
openaire +2 more sources
Analysis of dairy value chain in Ada’a Berga district, Ethiopia
Studia Ekonomiczne i Regionalne, 2021 Subject and purpose of work: Dairy production has key functions in food security and poverty reduction, but, dairy farmers do not always benefit from production. The aim of the study was to analyze the dairy value chain in Ada’a Berga district, Ethiopia.
Jara Gemechu O., Tolassa Tekle B.
doaj +1 more source
ECONOMICS, 2022 The aim of this paper is the detection crisis phenomena in the world grain market in the 2022/23 marketing year (MY), which worsened during the Russia-Ukraine invasion on February 24, 2022.
Kovtoniuk Kateryna, Molchanova Ellana
doaj +1 more source