Results 11 to 20 of about 92,178 (328)

Diagnosis of Shashi-Pena Syndrome Caused by Chromosomal Rearrangement Using Nanopore Sequencing. [PDF]

Neurol Genet, 2021
Wang Y, Tan J, Wang Y, Liu A, Qiao F, Huang M, Zhang C, Zhou J, Hu P, Xu Z.   +9 more
europepmc   +3 more sources

Criteria to evaluate patterns of segmental and complete aneuploidies in preimplantation genetic testing for aneuploidy results suggestive of an inherited balanced translocation or inversion

F&S Reports, 2021
Objective: To define criteria for determining when preimplantation genetic testing for aneuploidy (PGT-A) results are suggestive of a potential balanced chromosomal rearrangement in the egg or sperm source and warrant karyotyping.
Alyssa C. Snider, Ph.D., C.G.C., Tristan Darvin, M.S., Lauren Spor, B.S., Adedoyin Akinwole, M.P.H., Cengiz Cinnioglu, Ph.D., Refik Kayali, Ph.D.   +5 more
doaj   +1 more source

Case report: Optical genome mapping revealed double rearrangements in a male undergoing preimplantation genetic testing

Frontiers in Genetics, 2023
Chromosome rearrangement is one of the main causes of abortion. In individuals with double chromosomal rearrangements, the abortion rate and the risk of producing abnormal chromosomal embryos are increased.
Jun Ren, Jun Ren, Jun Ren, Yuezhi Keqie, Yuezhi Keqie, Yuezhi Keqie, Yutong Li, Yutong Li, Yutong Li, Lingping Li, Lingping Li, Lingping Li, Min Luo, Min Luo, Min Luo, Meng Gao, Meng Gao, Meng Gao, Cuiting Peng, Cuiting Peng, Cuiting Peng, Han Chen, Han Chen, Han Chen, Ting Hu, Ting Hu, Ting Hu, Xinlian Chen, Xinlian Chen, Xinlian Chen, Shanling Liu, Shanling Liu, Shanling Liu   +32 more
doaj   +1 more source

Re-evaluation of the carcinogenic significance of hepatitis B virus integration in hepatocarcinogenesis [PDF]

, 2012
To examine the role of hepatitis B virus (HBV) integration in hepatocarcinogenesis, a systematic comparative study of both tumor and their corresponding non-tumor derived tissue has been conducted in a cohort of 60 HBV associated hepatocellular carcinoma
Chun-Ming Wong, Chunhui Xu, Fengmin Lu, Hui Zhuang, Jiangbo Zhang, Jinlin Hou, Malcolm A. McCrae, Pei-Jer Chen, Suzhen Jiang, Weijie Li, Xiangmei Chen, Xiaojun Li, Yongfeng Wang, Ziwei Yang   +13 more
core   +12 more sources

Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of “8p Inverted Duplication/Deletion Syndrome”

Biomedicines, 2022
Inverted duplication syndrome with an adjacent terminal deletion of the short arm of chromosome 8—inv dup del(8p)—is a rare complex structural chromosomal rearrangement with a wide range of clinical manifestations.
Darya A. Yurchenko, Marina E. Minzhenkova, Elena L. Dadali, Zhanna G. Markova, Galina E. Rudenskaya, Galina N. Matyushchenko, Ilya V. Kanivets, Nadezda V. Shilova   +7 more
doaj   +1 more source

Preimplantation genetic testing for aneuploidy and chromosomal structural rearrangement: A summary of a nationwide study by the Japan Society of Obstetrics and Gynecology

Reproductive Medicine and Biology, 2023
Purpose The Japan Society of Obstetrics and Gynecology conducted a nationwide clinical study to evaluate the pregnancy outcomes of preimplantation genetic testing for aneuploidy or chromosomal structural rearrangement (PGT‐A/SR).
Takeshi Iwasa, Akira Kuwahara, Toshiyuki Takeshita, Yuka Taniguchi, Mikio Mikami, Minoru Irahara   +5 more
doaj   +1 more source

Re-analysis of whole blastocysts after trophectoderm biopsy indicated chromosome aneuploidy

Human Genomics, 2020
Background To compare the concordance between trophectoderm (TE) analysis and whole blastocyst analysis of embryos from chromosomal structural rearrangement (SR) carriers.
Zhanhui Ou, Zhiheng Chen, Minna Yin, Yu Deng, Yunhao Liang, Wenjun Wang, Yuanqing Yao, Ling Sun   +7 more
doaj   +1 more source

Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation [PDF]

, 2015
The identification of chromosomal rearrangements is of utmost importance for the diagnosis and classification of specific leukaemia subtypes and therefore has an impact on therapy choices in individual cases.
Federico, C, Owoka, T, Saccone, S, Tosi, S, Vetter, M   +4 more
core   +2 more sources

MALT1, BCL10 and FOXP1 in salivary gland mucosa-associated lymphoid tissue lymphomas [PDF]

, 2006
In view of the certain anatomic site-dependent frequency of chromosomal translocations involved in extranodal marginal zone B cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) pathogenesis, 17 salivary gland MALT lymphoma cases were ...
Isaacson PG, Harris NL, Carbone A, Banham A, Streubel B, Ventura RA, Remstein ED, Baens M, Ye H   +8 more
core   +1 more source

Engineering chromosome rearrangements in cancer [PDF]

Disease Models & Mechanisms, 2021
ABSTRACT The identification of large chromosomal rearrangements in cancers has multiplied exponentially over the last decade. These complex and often rare genomic events have traditionally been challenging to study, in part owing to lack of tools that efficiently engineer disease-associated inversions, deletions and translocations in ...
Salvador Alonso, Lukas E. Dow
openaire   +3 more sources