Zobrazeno 1 - 10
of 121
pro vyhledávání: '"Nong, Van Hai"'
Autor:
Nguyen Thuy Duong, Luong Thi Lan Anh, Nguyen Huu Sau, Nguyen Bao Anh, Miyake Noriko, Nong Van Hai, Matsumoto Naomichi
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
Abstract We present a homozygous missense mutation in the COL7A1 gene (NM_000094.4: c.6262G>A, p.G2088R) in a case of inversa recessive dystrophic epidermolysis bullosa (RDEB-I) from a nonconsanguineous Vietnamese family. Although a heterozygous form
Externí odkaz:
https://doaj.org/article/dc56089dd75746099c200cde83041a8e
Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome
Autor:
Nguyen Thuy Duong, Nguyen Phuong Anh, Nguyen Duy Bac, Le Bach Quang, Noriko Miyake, Nong Van Hai, Naomichi Matsumoto
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022)
Abstract We describe a case of Cockayne syndrome without photosensitivity in a Vietnamese family. This lack of photosensitivity prevented the establishment of a confirmed medical clinical diagnosis for 16 years. Whole-exome sequencing (WES) identifie
Externí odkaz:
https://doaj.org/article/4f1930f44c7e4793afe832c055eda3be
Autor:
Vu Phuong Nhung, Nguyen Dang Ton, Tran Thi Bich Ngoc, Ma Thi Huyen Thuong, Nguyen Thi Thanh Hai, Kim Thi Phuong Oanh, Le Thi Thu Hien, Pham Ngoc Thach, Nong Van Hai, Nguyen Hai Ha
Publikováno v:
Genes, Vol 13, Iss 10, p 1884 (2022)
Since the emergence and rapid transmission of SARS-CoV-2, numerous scientific reports have searched for the association of host genetic variants with COVID-19, but the data are mostly acquired from Europe. In the current work, we explored the link be
Externí odkaz:
https://doaj.org/article/2462b608bf134847a02e810786042376
Publikováno v:
Tạp chí Nghiên cứu Y học. 166:29-35
Autosomal dominant polycystic kidney disease (ADPKD) is a form of polycystic kidney disease (PKD) in which cysts develop within the kidneys, causing the kidneys to enlarge and lose function over time. ADPKD is caused by mutations in two major genes:
Autor:
Nguyen Thuy Duong, Luong Thi Lan Anh, Nguyen Huu Sau, Nguyen Bao Anh, Noriko Miyake, Nong Van Hai, Naomichi Matsumoto
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/cdb60e6b9ccb4d139d7df279e4bcfa81
Publikováno v:
Journal of Biology / TẠp chí Sinh HỌc. Jun2022, Vol. 44 Issue 2, p21-28. 8p.
Autor:
Nguyen Dang Ton, Nguyen Duc Thuan, Ma Thi Huyen Thuong, Tran Thi Bich Ngoc, Vu Phuong Nhung, Nguyen Thi Thanh Hoa, Nguyen Hoai Nam, Hoang Thi Dung, Nhu Dinh Son, Nguyen Van Ba, Nguyen Duy Bac, Tran Ngoc Tai, Le Thi Kim Dung, Nguyen Trong Hung, Nguyen Thuy Duong, Nguyen Hai Ha, Nong Van Hai
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background Early‐onset Parkinson's disease (EOPD) refers to that of patients who have been diagnosed or had onset of motor symptoms before age 50, accounting for 4% of Parkinson's disease patients. The PRKN and PINK1 genes, both involved i
Externí odkaz:
https://doaj.org/article/585ba16254974becac38f7c99b75ec93
Publikováno v:
Journal of Biology / TẠp chí Sinh HỌc. Mar2022, Vol. 44 Issue 1, p107-114. 8p.
Autor:
Pham Le Bich Hang, Nguyen Thi Thanh Hoa, Dao Duc Phong, Mac Thi Thom, Nguyen Dang Ton, Le Thi Thu Hien, Nong Van Hai, Nguyen Hai Ha
Publikováno v:
Journal of Clinical and Translational Endocrinology Case Reports, Vol 14, Iss , Pp - (2019)
Multiple endocrine neoplasia type 2A (MEN 2A) is a rare, autosomal dominant disease. It is characterized by complete penetrance of medullary thyroid carcinoma (MTC), lower prevalence of pheochromocytoma, hyperparathyroidism, and sometimes cutaneous l
Externí odkaz:
https://doaj.org/article/fea111e4dc1846dc942d2347d73f68f4
Autor:
Nguyen Xuan, Nong Van Hai
Publikováno v:
Iranian Journal of Basic Medical Sciences, Vol 21, Iss 1, Pp 3-8 (2018)
Klotho (KL) encodes a single-pass transmembrane protein and is predominantly expressed in the kidney, parathyroid glands, and choroid plexus. Genetic studies on the KL gene have revealed that DNA hypermethylation is one of the major risk factors for
Externí odkaz:
https://doaj.org/article/3820bf212df042d99b5b2ce6db348a75