Cargando…

Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder marked by incomplete retinal vascularization associated with exudation, neovascularization, and tractional retinal detachment. FEVR is genetically heterogeneous and is caused by variants in six genes: FZD4, LRP5, ND...

Descripción completa

Detalles Bibliográficos
Autores principales:	Trang, Duong Thu, Phu, Nguyen Minh, Hung, Do Manh, Nhung, Vu Phuong, Ha, Nguyen Ngan, Thuong, Ma Thi Huyen, Ngoc, Tran Thi Bich, Hiep, Nguyen Xuan, Ton, Nguyen Dang, Hai, Nong Van, Ha, Nguyen Hai
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115361/ https://www.ncbi.nlm.nih.gov/pubmed/37089697

Ejemplares similares

Genetic analyses of Vietnamese patients with oculocutaneous albinism
por: Thuong, Ma Thi Huyen, et al.
Publicado: (2022)

Host Genetic Risk Factors Associated with COVID-19 Susceptibility and Severity in Vietnamese
por: Nhung, Vu Phuong, et al.
Publicado: (2022)

Mutational screening of germline RB1 gene in Vietnamese patients with retinoblastoma reveals three novel mutations
por: Nguyen, Ha Hai, et al.
Publicado: (2018)

Novel mutations of the PAX6, FOXC1, and PITX2 genes cause abnormal development of the iris in Vietnamese individuals
por: Nguyen, Ha Hai, et al.
Publicado: (2021)

Single nucleotide and structural variants of CYP2D6 gene in Kinh Vietnamese population
por: Nguyen, Ha Hai, et al.
Publicado: (2019)

Rare and novel variants of PRKN and PINK1 genes in Vietnamese patients with early‐onset Parkinson’s disease
por: Ton, Nguyen Dang, et al.
Publicado: (2020)

Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing
por: Ma, Thi Huyen Thuong, et al.
Publicado: (2021)

Genetic variations of antioxidant genes and their association with male infertility in Vietnamese men
por: Bach, Huy Anh, et al.
Publicado: (2023)

Copy number variations of cytochrome P450 genes in Kinh Vietnamese
por: Vu, Nhung Phuong, et al.
Publicado: (2023)

Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family
por: Nguyen, Ngoc-Lan, et al.
Publicado: (2020)

The pattern of disorders of sex development in Vietnamese children
por: Nga, Pham Thu, et al.
Publicado: (2015)

Normative data for the Vietnamese smell identification test
por: Tran, Tai Ngoc, et al.
Publicado: (2023)

Genotype and phenotype of Vietnamese patients with androgen insensitivity syndrome
por: Dung, Vu Chi, et al.
Publicado: (2013)

A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report
por: Ho, Thuong Thi, et al.
Publicado: (2020)

Perception and Attitude about Child Sexual Abuse among Vietnamese School-Age Children
por: Do, Ha Ngoc, et al.
Publicado: (2019)

Polymorphisms of ABCG2 and SLC22A12 Genes Associated with Gout Risk in Vietnamese Population
por: Thuy Duong, Nguyen, et al.
Publicado: (2019)

Post-stroke depression in Vietnamese patients is associated with decreased sleep quality and increased fatigue: a one-institution cross-sectional analysis
por: Nguyen, Thao Thi Phuong, et al.
Publicado: (2022)

Mutations of ABCD1 gene and phenotype of Vietnamese patients with X-linked adrenoleukodystrophy (X-ALD)
por: Dung, Vu Chi, et al.
Publicado: (2013)

Molecular genetics and phenotype of 26 Vietnamese patients with congenital hyperinsulinism
por: Dung, Vu Chi, et al.
Publicado: (2013)

Biliary atresia combined Wilson disease identified by whole exome sequencing in Vietnamese patient with severe liver failure
por: Hoa, Nguyen Pham Anh, et al.
Publicado: (2022)

Anxiety and associated factors among Vietnamese students during COVID-19 pandemic: A cross-sectional study
por: Nguyen, Long Xuan, et al.
Publicado: (2023)

Understanding the Role of Prevotella Genus in the Digestion of Lignocellulose and Other Substrates in Vietnamese Native Goats’ Rumen by Metagenomic Deep Sequencing
por: Dao, Trong-Khoa, et al.
Publicado: (2021)

Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome
por: Duong, Nguyen Thuy, et al.
Publicado: (2022)

Phenotype & genotype of congenital adrenal hyperplasia due to mutation in the type ii 3β-hydroxysteroid dehydrogenase gene: a report of two Vietnamese families
por: Dung, Vu Chi, et al.
Publicado: (2015)

Telephone-Based Smoking Cessation Counseling Service: Satisfaction and Outcomes in Vietnamese Smokers
por: Ngo, Quy-Chau, et al.
Publicado: (2022)

Dataset on the compounds from the leaves of Vietnamese Machilus thunbergii and their anti-inflammatory activity
por: To, Dao Cuong, et al.
Publicado: (2023)

Onto the differences in formulating micro-/nanoparticulate drug delivery system from Thai silk and Vietnamese silk: A critical comparison
por: Nguyen, Ngoc Yen, et al.
Publicado: (2023)

COVID-19-related music-video-watching among the Vietnamese population: lessons on health education
por: Hung, Nguyen Tuan, et al.
Publicado: (2021)

Mandibuloacral dysplasia in a young Vietnamese girl caused by homozygous missense variant c.1579C>T in the LMNA gene with progeria and severe skin lesions
por: Doanh, Le Huu, et al.
Publicado: (2021)

Association of ADH1B rs1229984, ADH1C rs698, and ALDH2 rs671 with Alcohol abuse and Alcoholic Cirrhosis in People Living in Northeast Vietnam
por: Hoang, Yen Thi Thu, et al.
Publicado: (2023)

Quality of Life and Suitability with Vietnamese Harmonious Face Index in Class III Malocclusion Patients
por: Minh, Nguyen Hoang, et al.
Publicado: (2019)

Reliability and Validity of SARC-F Questionnaire to Assess Sarcopenia Among Vietnamese Geriatric Patients
por: Nguyen, Tam Ngoc, et al.
Publicado: (2020)

Bank provisioning practice during the pandemic: evidence from the COVID-19 outbreak
por: Nguyen, Tram-Anh, et al.
Publicado: (2023)

Heavy Metal Tolerance of Novel Papiliotrema Yeast Isolated from Vietnamese Mangosteen
por: Nguyen, Kim Cuc Thi, et al.
Publicado: (2020)

HIV knowledge and risk behaviors among drug users in three Vietnamese mountainous provinces
por: Nguyen, Tam Minh Thi, et al.
Publicado: (2019)

South Vietnamese Rural Mothers' Knowledge, Attitude, and Practice in Child Health Care
por: Thac, Dinh, et al.
Publicado: (2016)

Methylation Profiles of BRCA1, RASSF1A and GSTP1 in Vietnamese Women with Breast Cancer
por: Vu, Trang Lan, et al.
Publicado: (2018)

Retroperitoneal ectopic pregnancy after in vitro fertilization: A case report of a patient with bilateral salpingectomy
por: Anh, Nguyen Duy, et al.
Publicado: (2021)

Short Tandem Repeats Used in Preimplantation Genetic Testing of Β-Thalassemia: Genetic Polymorphisms For 15 Linked Loci in the Vietnamese Population
por: Truong, Dang Tien, et al.
Publicado: (2019)

Single Nucleotide Polymorphisms of ADH1B, ADH1C and ALDH2 Genes in 235 People Living in Thai Nguyen Province of Vietnam
por: Hoang, Yen Thi Thu, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_umgbtgvr9pe8b1evsb08rk6nvl