(Q36455759)

English

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 (English)

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

1 reference

based on heuristic

inferred from title

Usher syndrome type 3

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Gudrun Nürnberg

5

object named as

Gudrun Nürnberg

0 references

Hanno Jörn Bolz

11

object named as

Hanno Jörn Bolz

0 references

Peter Nürnberg

6

object named as

Peter Nürnberg

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

object named as

Rima Slim

2

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author name string

Tobias Eisenberger

1

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Ahmad Mansour

3

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Markus Nauck

4

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Christian Decker

7

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Claudia Dafinger

8

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Inga Ebermann

9

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Carsten Bergmann

10

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

publication date

2 September 2012

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

7

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

59

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Role for a novel Usher protein complex in hair cell synaptic maturation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

Genetic mapping and exome sequencing identify variants associated with five novel diseases

1 reference

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30 September 2017

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

Clinical utility gene card for: Usher syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

The changing face of Usher syndrome: clinical implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

Usher syndrome: molecular links of pathogenesis, proteins and pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

Defining the phenotype in human genetic studies: forward genetics and reverse phenotyping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

Allegro, a new computer program for multipoint linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

30 September 2017

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3518140

28 June 2018

Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-59

21 January 2018

Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-59

21 January 2018

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/22938382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GRR: graphical representation of relationship errors

1 reference

https://pubmed.ncbi.nlm.nih.gov/22938382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-7-59

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

ResearchGate publication ID

0 references

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