Cargando…

Rapid identification of a pathogenic variant of PROS1 in a thrombophilic family by whole exome sequencing: A case report

RATIONALE: Venous thrombosis remains a significant problem in modern days. Genetic factors contribute to a subset of patients with venous thrombosis. It is sometimes challenging to identify the underlying culprit in thrombophilic individuals based on traditional laboratory testing and Sanger sequenc...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhang, Wenwen, Huang, Chen, Zhou, Wei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2021
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8718207/ https://www.ncbi.nlm.nih.gov/pubmed/34967380 http://dx.doi.org/10.1097/MD.0000000000028436

Ejemplares similares

Whole exome sequencing unveils a frameshift mutation in CNGB3 for cone dystrophy: A case report of an Indian family
por: Gupta, Shashank, et al.
Publicado: (2017)

Exome sequencing identifies a novel UNC5D mutation in a severe myopic anisometropia family: A case report
por: Feng, Lei, et al.
Publicado: (2017)

Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports
por: Wang, Li, et al.
Publicado: (2022)

Uncovering a new SASH1 mutation associated with dyschromatosis universalis hereditaria using whole-exome-sequencing: A case report
por: Yang, Yue, et al.
Publicado: (2023)

Performance characterization of PCR-free whole genome sequencing for clinical diagnosis
por: Zhou, Guiju, et al.
Publicado: (2022)

Genetic analysis and management of a familial hypercholesterolemia pedigree with polygenic variants: Case report
por: Han, Yu, et al.
Publicado: (2023)

Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review
por: Li, Niu, et al.
Publicado: (2017)

A novel F8 variant in a Chinese hemophilia A family and involvement of X-chromosome inactivation: A case report
por: Zhang, Honghong, et al.
Publicado: (2023)

Identification of a novel heterozygous TSC2 splicing variant in a patient with Tuberous sclerosis complex: A case report
por: Liu, Linli, et al.
Publicado: (2022)

Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report
por: Huang, Xinyi, et al.
Publicado: (2022)

Identification of THSD7B and PRMT9 mutations as risk factors for familial lung adenocarcinoma: A case report
por: Zhang, Qianqian, et al.
Publicado: (2023)

Case report: Novel GJB2 variant c.113T>C associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in a Han family
por: Lan, Xinqiang, et al.
Publicado: (2019)

CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia
por: Liu, Li, et al.
Publicado: (2021)

Whole exome sequencing in thrombophilic pedigrees to identify genetic risk factors for venous thromboembolism
por: Cunha, Marisa L. R., et al.
Publicado: (2017)

New compound heterozygous variants of the cholinergic receptor nicotinic delta subunit gene in a Chinese male with congenital myasthenic syndrome: A case report
por: Feng, Huiru, et al.
Publicado: (2017)

Hypertrophic cardiomyopathy caused by a heterozygous variant in TTR gene: A case report
por: Yuan, Huayuan, et al.
Publicado: (2023)

Genotype and clinical phenotype analysis of a Family with Kennedy disease
por: Cai, Ben-Chi, et al.
Publicado: (2023)

The genetic variants in calcium signaling related genes influence anti-tuberculosis drug induced liver injury: A prospective study
por: Lyu, Mengyuan, et al.
Publicado: (2019)

Determinants of Plasma Renin Activity: Role of a Human Renin Gene Variant as a Genetic Factor
por: Konoshita, Tadashi, et al.
Publicado: (2014)

A mutation of EYA1 gene in a Chinese Han family with Branchio-Oto syndrome
por: Han, Rui, et al.
Publicado: (2021)

Spinocerebellar ataxia 2 in a family with different phenotypes: Two case reports
por: Li, Yuanyuan, et al.
Publicado: (2019)

Preimplantation genetic testing and prenatal diagnosis in a family with pseudovaginal perineoscrotal hypospadias: A case report
por: Chen, Jiayao, et al.
Publicado: (2023)

Clinical assessment and FGFR2 mutation analysis in a Chinese family with Crouzon syndrome: A case report
por: Shi, Huijun, et al.
Publicado: (2021)

A novel compound heterozygous COL4A4 mutation in a Chinese family with Alport syndrome: A care case report
por: Chen, Ji-Yu, et al.
Publicado: (2021)

Prenatal detection of a 7q11.21 microdeletion (517–605 kb): A variant with normal characteristics at birth (STROBE)
por: Zhang, Hongguo, et al.
Publicado: (2021)

Loss-of-function mutation of PCSK9 as a protective factor in the clinical expression of familial hypercholesterolemia: A case report
por: Bayona, Ane, et al.
Publicado: (2020)

A novel AVPR2 missense mutation in an Asian family with inherited nephrogenic diabetes insipidus: A case report
por: Zhang, Min, et al.
Publicado: (2019)

Functional Restriction for the Fear of Falling In Family Caregivers
por: Shen, Jing, et al.
Publicado: (2015)

Identification of key genes and pathways in IgA nephropathy using bioinformatics analysis
por: Hu, Shou-Liang, et al.
Publicado: (2020)

Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis: Case report
por: Jeong, Changhoon, et al.
Publicado: (2021)

Common variants in IL-17A/IL-17RA axis contribute to predisposition to and progression of congestive heart failure
por: Sandip, Chaugai, et al.
Publicado: (2016)

A genetic variant in GLP1R is associated with response to DPP-4 inhibitors in patients with type 2 diabetes
por: Han, Eugene, et al.
Publicado: (2016)

Hereditary Pancreatitis Associated With the N29T Mutation of the PRSS1 Gene in a Brazilian Family: A Case-Control Study
por: Dytz, Marcio Garrison, et al.
Publicado: (2015)

Familial chylomicronemia syndrome due to a heterozygous deletion of the chromosome 8 treated with the apoCIII inhibitor volanesorsen: A case report
por: Tünnemann-Tarr, Adrienn, et al.
Publicado: (2021)

Polymorphic variants in VAX1 and the risk of nonsyndromic cleft lip with or without cleft palate in a population from northern China
por: Li, Dongmei, et al.
Publicado: (2017)

Prenatal detection of terminal 9p24.3 microduplication encompassing DOCK8 gene: A variant of likely benign
por: Yue, Fagui, et al.
Publicado: (2021)

Identification of a novel heterozygous germline RAD52 missense mutation in a patient with gallbladder carcinoma: A case report
por: Zhao, Wenhu, et al.
Publicado: (2021)

Severe dysplasminogenemia due to homozygous PLG Ala620Thr variant in a Korean woman without a history of venous thromboembolism: A case report and literature review
por: Lee, Beomki, et al.
Publicado: (2022)

Identification of new genes of pleomorphic adenoma
por: Choi, Jeong-Seok, et al.
Publicado: (2019)

Heme Oxygenase 1 and 2 Common Genetic Variants and Risk for Essential Tremor
por: Ayuso, Pedro, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_kraoema3d976q1lbdaf68q8oqe