Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Chinese CARASIL Patient Caused by Novel Compound Heterozygous Mutations in HTRA1.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Oct 2018

Xie Fei, Zhang Li-San

Abstract excerpt

Our objective is to reported a Chinese CARASIL patient caused by novel compound heterozygous mutations in HTRA1. Detailed clinical and neuroimaging examination were conducted in proband and her available family members. Sanger sequencing of NOTCH3 and HTRA1 was used to investigate causative mutations. The patient was born in an outbred family. She experienced recurrent transient ischemic attacks, hair loss, and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alopecia
Share to Cerebral Infarction
Share to Heredity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Temperature Requirement A Serine Peptidase 1

Share to Intracranial Hemorrhages

Share to Ischemic Attack, Transient

Share to Leukoencephalopathies

Share to Spinal Diseases

Source

Identifiers

PMID: 30068478
DOI: 10.1016/j.jstrokecerebrovasdis.2018.06.017

Genes

HTRA1
NOTCH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Chinese CARASIL Patient Caused by Novel Compound Heterozygous Mutations in HTRA1.PMID 30068478Read ↗

Genetically Confirmed CARASIL: Case Report with Novel HTRA1 Mutation and Literature Review.Semantic proximity Read ↗

A CARASIL Patient from Americas with Novel Mutation and Atypical Features: Case Presentation and Literature Review.Semantic proximity Read ↗

Clinical features and pathogenicity assessment in patients with HTRA1-autosomal dominant disease.Semantic proximity Read ↗

A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree.Semantic proximity Read ↗

[Carasil].Semantic proximity Read ↗

Characterization of Heterozygous HTRA1 Mutations in Taiwanese Patients With Cerebral Small Vessel Disease.Semantic proximity Read ↗

One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family.Semantic proximity Read ↗

[CARASIL: Identification of the clinical concept].Semantic proximity Read ↗

CARASIL families from India with 3 novel null mutations in the HTRA1 gene.Semantic proximity Read ↗

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification.Semantic proximity Read ↗

Novel mutations in HTRA1-related cerebral small vessel disease and comparison with CADASIL.Semantic proximity Read ↗

Autosomal dominant inheritance of a heterozygous mutation in HTRA1: A case report and literature review.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.