Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing

Autor: Thi Huyen Thuong Ma, Thi Lan Anh Luong, Thu Lan Hoang, Thi Thanh Hoa Nguyen, Thi Ha Vu, Van Khoa Tran, Duy Bac Nguyen, Tien Sang Trieu, Hai Ha Nguyen, Van Hai Nong, Dang Ton Nguyen

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)

Abstract Background Dystrophic epidermolysis bullosa (DEB) is a rare inherited disorder characterized by skin fragility leading to trauma‐induced subepidermal blisters and healing with scarring. DEB is caused by mutations in COL7A1, the gene encodi

Externí odkaz: https://doaj.org/article/12f506dda081432889c0d35679680a8f

Preimplantation Genetic Testing of Aneuploidy by Next Generation Sequencing: Association of Maternal Age and Chromosomal Abnormalities of Blastocyst

Autor: Hoang Le, Thi Mui Phung, Vu Thi Nga, Thi-Bich-Van Nguyen, Duy Bac Nguyen, Tien-Truong Dang, Van Luong Hoang, Thi Lien Huong Nguyen, Dinh-Toi Chu, Thi Sim Nguyen

Publikováno v: Open Access Macedonian Journal of Medical Sciences
Open Access Macedonian Journal of Medical Sciences; Vol. 7 No. 24 (2019): Dec 30 (Basic and Clinical Medical Researches in Vietnam); 4427-4431
Open Access Macedonian Journal of Medical Sciences, Vol 7, Iss 24 (2019)

BACKGROUND: Aneuploidy is a major cause of miscarriages and implantation failure. Preimplantation genetic testing for aneuploidy (PGT-A) by Next Generation Sequencing (NGS) is able to detect of the numeral and structural chromosomal abnormalities of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c79864462950ed3fe04b51b538a1e268
http://europepmc.org/articles/PMC7084032

Một số đặc điểm rối loạn nhiễm sắc thể ở phôi ngày năm thụ tinh trong ống nghiệm

Autor: Tien Truong Dang, Van Luong Hoang, Thi Bich Van Nguyen, Viet Tien Nguyen, Duy Bac Nguyen

Publikováno v: Tạp chí Phụ sản. 16:138-141

Sàng lọc di truyền trước chuyển phôi (Preimplantation Genetics Screening – PGS) là phương pháp sử dụng các kỹ thuật sàng lọc phân tích bản chất di truyền bên trong của phôi để chọn được những phôi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::100485210bebdcc788e3dd45457aadf6
https://doi.org/10.46755/vjog.2018.1.716

Academy Journal No. 10(12), 2018// Chief Editor Susan Belih /OEAPS Inc.(Open European Academy of Public Sciences). Barcelona, Spain. 09.12.2018

Autor: Inc. OEAPS, Duy Bac Nguyen Minh Hoang Le, al. et.

"Academy Journal" is an international, peer-reviewed monthly journal. It is devoted to the publication of original scientific research articles dealing with various academic disciplines.Articles that may be of interest to a wide range of researchers

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::18bc5c40f07b8ee3a388bea96158b2b2
https://doi.org/10.31219/osf.io/483dt

Whole Genome Sequencing of a Vietnamese Family from a Dioxin Contamination Hotspot Reveals Novel Variants in the Son with Undiagnosed Intellectual Disability

Autor: Van Ba Nguyen, Dang Ton Nguyen, Thi Hoa Nguyen, Hai Ha Nguyen, Jing Hao Wong, Kazuhiro Maejima, Akihiro Fujimoto, Aya Sasaki-Oku, Kaoru Nakano, Thuy Duong Nguyen, Duy Bac Nguyen, Hidewaki Nakagawa, Tatsuhiko Tsunoda, Bach Quang Le, Van Hai Nong

Publikováno v: International Journal of Environmental Research and Public Health
Volume 15
Issue 12
International Journal of Environmental Research and Public Health, Vol 15, Iss 12, p 2629 (2018)

Although it has been a half-century since dioxin-contaminated herbicides were used to defoliate the landscape during the Vietnam War, dioxin contamination &ldquo
hotspots&rdquo
still remain in Vietnam. Environmental and health impacts of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77cb8236f5c1e89e3d9c68009eed31d6
https://pubmed.ncbi.nlm.nih.gov/30477169