Molecular Cytogenetics

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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
De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome
Molecular Cytogenetics - - 2017
Qin Wang, Geng Qian, Qinghua Zhou, Fuwei Luo, Peining Li, Jiansheng Xie
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
Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature
Molecular Cytogenetics - Tập 11 - Trang 1-7 - 2018
Bagas A. Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R. L. Batubara, Alida R. Harahap, Nanis S. Marzuki
A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24...... 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
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