Molecular Cytogenetics

Công bố khoa học tiêu biểu

* Dữ liệu chỉ mang tính chất tham khảo

Sắp xếp:  
Genetic affinities of six populations of Manipur using a microsatellite (STR) marker
Molecular Cytogenetics - Tập 7 - Trang 1-1 - 2014
Ahsana Shah, Ruqaiya Hussain, Mohammad Afzal
Detailed molecular cytogenetic characterisation of the myeloid cell line U937 reveals the fate of homologous chromosomes and shows that centromere capture is a feature of genome instability
Molecular Cytogenetics - Tập 13 - Trang 1-14 - 2020
Ruth N. MacKinnon, Joanne Peverall, Lynda J. Campbell, Meaghan Wall
The U937 cell line is widely employed as a research tool. It has a complex karyotype. A PICALM-MLLT10 fusion gene formed by the recurrent t(10;11) translocation is present, and the myeloid common deleted region at 20q12 has been lost from its near-triploid karyotype. We carried out a detailed investigation of U937 genome reorganisation including the chromosome 20 rearrangements and other complex r...... hiện toàn bộ
Một trường hợp bạch cầu lympho cấp tính tiền B ở người lớn với nhiều bất thường di truyền thứ cấp Dịch bởi AI
Molecular Cytogenetics - - 2014
Walid AL-Achkar, Abdulsamad Wafa, Moneeb Abdullah Kassem Othman, Faten Moassass, Abdulmunim Aljapawe, Thomas Liehr
Chúng tôi báo cáo một trường hợp bạch cầu lympho cấp tính (ALL) được chẩn đoán lâm sàng có những bất thường nhiễm sắc thể thứ cấp chưa được báo cáo. Phân tích cytogenetic và phân tích cytogenetic phân tử hoàn chỉnh, sử dụng phương pháp GTG, lai huỳnh quang trong tình huống (FISH) và phân băng đa sắc đã được chứng minh bằng mảng (aMCB), đối với một bệnh nhân nữ được chẩn đoán lâm sàng là bạch cầu l...... hiện toàn bộ
#bạch cầu lympho cấp tính #bất thường di truyền thứ cấp #phân tích cytogenetic #nghiên cứu phân tử
RAGE gene polymorphism and expression: risk factor for vascular complications in type 2 diabetes mellitus
Molecular Cytogenetics - - 2014
Diwesh Chawla, Savita Bansal, Pawan Kumar Kare, Basu Basu Dev, Sri Venkata Madhu, Anil Kumar Tripathi
Somatic mosaicism in the diseased brain
Molecular Cytogenetics - Tập 15 - Trang 1-11 - 2022
Ivan Y. Iourov, Svetlana G. Vorsanova, Oxana S. Kurinnaia, Sergei I. Kutsev, Yuri B. Yurov
It is hard to believe that all the cells of a human brain share identical genomes. Indeed, single cell genetic studies have demonstrated intercellular genomic variability in the normal and diseased brain. Moreover, there is a growing amount of evidence on the contribution of somatic mosaicism (the presence of genetically different cell populations in the same individual/tissue) to the etiology of ...... hiện toàn bộ
Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes
Molecular Cytogenetics - - 2019
Yang Yang, Wang Hao
Isodicentric Y chromosomes [idic(Y)] are one of the most common structural abnormalities of the Y chromosome. The prenatal diagnosis of isodicentric Y chromosomes is of vital importance, and the postnatal phenotypes vary widely. Therefore, we present six patients prenatally diagnosed with isodicentric Y chromosomes and review the literature concerning the genotype-phenotype correlations. The clini...... hiện toàn bộ
Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities
Molecular Cytogenetics - Tập 8 - Trang 1-6 - 2015
Carrie Guy, Xianfu Wang, Xianglan Lu, Jin Lu, Shibo Li
Central nervous system features have been rarely described to be associated with the small deletion or duplication of chromosome 22q11.21. We report two patients with chromosome 22q11.21 alterations and central nervous system abnormalities. Features described include semilobar holoprosencephaly in the patient with the small deletion and Chiari I malformation in the patient with the small duplicati...... hiện toàn bộ
Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7
Molecular Cytogenetics - Tập 4 - Trang 1-5 - 2011
Li-Ping Tsai, Kuei-Fang Lee, Jye-Siung Fang, Ingrid Y Liu
Clinical and molecular cytogenetic investigations of a newborn girl exhibiting facial dysmorphism with developmental delay. Phenotypic evaluation was first applied to examine the proband's developmental status. Computed tomography and colour transcranial Doppler were used then to investigate her brain structure and function. Subsequently, chromosomal abnormalities were examined by karyotyping and ...... hiện toàn bộ
Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene
Molecular Cytogenetics - Tập 15 - Trang 1-11 - 2022
Shengfang Qin, Xueyan Wang, Jin Wang
A male individual with a karyotype of 46,XX is very rare. We explored the genetic aetiology of an infertility male with a kayrotype of 46,XX and SRY negative. The peripheral blood sample was collected from the patient and subjected to a few genetic testing, including chromosomal karyotyping, azoospermia factor (AZF) deletion, short tandem repeat (STR) analysis for AMELX, AMELY and SRY, fluorescenc...... hiện toàn bộ
Disorders of sex development in Wolf–Hirschhorn syndrome: a genotype–phenotype correlation and MSX1 as candidate gene
Molecular Cytogenetics - Tập 14 - Trang 1-9 - 2021
Khouloud Rjiba, Hédia Ayech, Olfa Kraiem, Wafa Slimani, Afef Jelloul, Imen Ben Hadj Hmida, Nabiha Mahdhaoui, Ali Saad, Soumaya Mougou-Zerelli
Wolf–Hirschhorn (WHS) is a set of congenital physical anomalies and mental retardation associated with a partial deletion of the short arm of chromosome 4. To establish a genotype–phenotype correlation; we carried out a molecular cytogenetic analysis on two Tunisian WHS patients. Patient 1 was a boy of 1-year-old, presented a typical WHS phenotype while patient 2, is a boy of 2 days presented an h...... hiện toàn bộ
Tổng số: 732   
  • 1
  • 2
  • 3
  • 4
  • 5
  • 6
  • 10