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

Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.

Scientific reports - 15 Nov 2017

Eandi Chiara M, Dallorto Laura, Spinetta Roberta, Micieli Maria Pia, Vanzetti Mario, Mariottini Alessandro, Passerini Ilaria, Torricelli Francesca, Alovisi Camilla, Marchese Cristiana

Abstract excerpt

We report results of DNA analysis with next generation sequencing (NGS) of 21 consecutive Italian patients from 17 unrelated families with clinical diagnosis of Usher syndrome (4 USH1 and 17 USH2) searching for mutations in 11 genes: MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, ADGVR1, DFNB31, CLRN1, PDZD7, HARS. Likely causative mutations were found in all patients: 25 pathogenic variants, 18 previously reported...

Read the complete abstract on PubMed

Topics

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

Share to Extracellular Matrix Proteins
Share to Italy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Myosin VIIa

Share to Myosins

Share to Receptors, G-Protein-Coupled

Share to Sequence Deletion

Share to Usher Syndromes

Source

Open in PubMed Open full text

Identifiers

PMID: 29142287
DOI: 10.1038/s41598-017-16014-z
PMCID: PMC5688149

Genes

ADGRV1
CDH23
CLRN1
PCDH15
PDZD7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.PMID 29142287Read ↗

MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.Semantic proximity Read ↗

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.Semantic proximity Read ↗

Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.Semantic proximity Read ↗

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.Semantic proximity Read ↗

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.Semantic proximity Read ↗

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.Semantic proximity Read ↗

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.Semantic proximity Read ↗

Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree.Semantic proximity Read ↗

Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.Semantic proximity Read ↗

Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.Semantic proximity Read ↗

Novel mutations of the USH2A gene and clinical phenotypes in Chinese Usher syndrome familiesSemantic proximity Read ↗

Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.Semantic proximity Read ↗

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