Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Thinh Huy, Tran"'
Autor:
Vu Viet Ha Vuong, Phuoc-Dung Nguyen, Nha Nguyen Thi, Phuong Le Thi, Dang Thi Minh Nguyet, Manh Ha Nguyen, Hai Anh Tran, Nhat-Minh Dang-Tran, The-Hung Bui, Thinh Huy Tran, Thanh Van Ta, Van-Khanh Tran
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 3, Pp 375-380 (2024)
Objectives: α-thalassemia is an autosomal recessive monogenic blood disorder, affecting up to 5% of the world's population. The occurrence rate of the disease in Vietnam varies up to up to 51.5%, with high rate of mutation carriers, of couples consi
Externí odkaz:
https://doaj.org/article/97b2709f55004b258e4dd79714c5b636
Autor:
Van Khanh Tran, My Ha Cao, Thi Thanh Hai Nguyen, Phuong Thi Le, Hai Anh Tran, Dung Chi Vu, Ha Thu Nguyen, Mai Thi Phương Nguyen, The-Hung Bui, Thanh Binh Nguyen, Thanh Van Ta, Thinh Huy Tran
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundPathogenic variants in the IGHMBP2 gene are associated with two distinct autosomal recessive neuromuscular disorders: spinal muscular atrophy with respiratory distress type 1 (SMARD1; OMIM #604320) and Charcot–Marie–Tooth type 2S (CMT2S
Externí odkaz:
https://doaj.org/article/34e601b1ab524311b5ad6983acea6d57
Autor:
Hung Manh Pham, Duy Phuong Dang, Thanh Dat Ta, Thi Phuong Le, Dinh Phong Phan, Hoai An Trinh, Tuan Viet Tran, Thi Lan Anh Luong, Ha Minh Nguyen, The‐Hung Bui, Thinh Huy Tran, Thanh Van Ta, Van‐Khanh Tran
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background Brugada syndrome (BrS) is a rare genetic disease that causes sudden cardiac death (SCD) and arrhythmia. SCN5A pathogenic variants (about 30% of diagnosed patients) are responsible for BrS. Aims Lack of knowledge regarding molecula
Externí odkaz:
https://doaj.org/article/0f0b031ef8d4428c9c6d5ec81044eadf
Autor:
Dao Nguyen Ha Linh, Nguyen Van Huy, Phuoc‐Dung Nguyen, Phuong Le Thi, Hoang Anh Tuan, Trong Van Nguyen, Thu Ha Tran, Hai Anh Tran, Thanh Dat Ta, Tuan L. A. Pham, The‐Hung Bui, Thinh Huy Tran, Thanh Van Ta, Van‐Khanh Tran
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 11, Pp n/a-n/a (2023)
Abstract Background Retinoblastoma (RB), an intraocular malignancy commonly diagnosed in children, is mostly caused by inactivating mutations of both alleles of the RB1 gene. Early genetic screening for RB1 gene mutations would greatly improve treatm
Externí odkaz:
https://doaj.org/article/6aa8a8dd1de147cc936ffd732b2f07dd
Autor:
Thi Minh Phuong Bui, Van Khanh Tran, Thi Thanh Hai Nguyen, Thi Phuong Le, Thi Mai Nguyen, Hai Anh Tran, Vu Dung Luu, Manh Ha Nguyen, The-Hung Bui, Thanh Van Ta, Thinh Huy Tran
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 6, Pp 1009-1014 (2022)
Objective: Hemophilia A (HA) is an X-linked recessive bleeding disease caused by a deficiency or dysfunction of blood coagulation factor VIII (FVIII). Available treatment to replenish the missing factor may not reach a good outcome for all patients b
Externí odkaz:
https://doaj.org/article/d37e2a63a61e4e1da8201b46278843f0
Autor:
Van Khanh Tran, Ngoc-Lan Nguyen, Lan Ngoc Thi Tran, Phuong Thi Le, Anh Hai Tran, Tuan L. A. Pham, Nguyen Thi Kim Lien, Nguyen Thi Xuan, Le Tat Thanh, Thanh Van Ta, Thinh Huy Tran, Huy-Hoang Nguyen
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), also known as laminin-α2 chain-deficient congenital muscular dystrophy (LAMA2-MD), is an autosomal recessive disease caused by biallelic variants in the LAMA2 gene. In MDC1
Externí odkaz:
https://doaj.org/article/00fc6956be4d4d9eaf9b0684d9146f12
Autor:
Nam‐Chung Tran, Tuan Anh Nguyen, Thanh Dat Ta, Thinh Huy Tran, Phuoc‐Dung Nguyen, Chi Dung Vu, Van‐Hung Nguyen, The‐Hung Bui, Thanh Van Ta, Van Khanh Tran
Publikováno v:
Clinical Case Reports, Vol 11, Iss 3, Pp n/a-n/a (2023)
Abstract Limb‐girdle muscular dystrophy‐type 2C (LGMD2C) is caused by mutations in the SGCG gene. Here, we report a case of a 26‐year‐old male who had inactive walking due to proximal muscle weakness. Targeted next‐generation sequencing fou
Externí odkaz:
https://doaj.org/article/a0cf2653b0764123ace118f3fbae2f31
Autor:
Van Khanh Tran, Quang Minh Diep, Zilong Qiu, Thi Phuong Le, Long Duy Do, Hai Anh Tran, The-Hung Bui, Thanh Van Ta, Thinh Huy Tran
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 1, Pp 153-156 (2022)
Objective: We investigated a strategy of exome sequencing DNA from the unaffected parents and applied a set of filtering criteria to identify genes where both partners are heterozygous for a potentially pathogenic variant. Case report: We report a no
Externí odkaz:
https://doaj.org/article/7d0c80ef47ca4f5dbd1835c5e5e4cd1f
Autor:
Van Khanh Tran, Quang Minh Diep, Qiu Zilong, Le Thi Phuong, Hai Anh Tran, Nguyen Van Tung, Nguyen Thi Kim Lien, Nguyen Thi Xuan, Le Thi Ha, Thanh Van Ta, Thinh Huy Tran, Nguyen Huy Hoang
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundHarlequin ichthyosis (HI) is a severe rare genetic disease that mainly affects the skin. Neonates with this disease are born with thick skin and large diamond-shaped plates covering most of their bodies. Affected neonates lose the ability t
Externí odkaz:
https://doaj.org/article/ca519a899c2e4d529e2a60e94cf7f822
Autor:
Thuy Mau Thi Nguyen, Khanh Van Tran, Van Thanh Ta, Linh Mai Tran, Chi Khanh Tran, Huy Le Trinh, Dat Thanh Ta, Binh Thanh Nguyen, Thinh Huy Tran
Publikováno v:
Respiratory Medicine Case Reports, Vol 42, Iss , Pp 101804- (2023)
Natural killer (NK) cells have developed as a potent tool in cancer immunotherapy. Especially, patients who have failed in the first-line or maintenance treatment received a good response with immunotherapy in association with other approaches. We re
Externí odkaz:
https://doaj.org/article/8387d4e57c5248a986dcf7dc755bb944