(Q48204568)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876815%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

title

Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere's disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876815%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876815%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Carmen Martín-Sierra

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876815%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Alvaro Gallego-Martinez

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876815%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Teresa Requena

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876815%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Lidia Frejo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876815%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Angel Batuecas-Caletrio

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876815%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

author name string

Carmen Martín-Sierra

1

1 reference

9 February 2018

Alvaro Gallego-Martinez

2

1 reference

9 February 2018

Teresa Requena

3

1 reference

9 February 2018

Lidia Frejo

4

1 reference

9 February 2018

Angel Batuecas-Caletrío

5

1 reference

9 February 2018

publication date

23 November 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876815%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

28 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876815%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876815%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876815%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

page(s)

200-207

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876815%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2016.154

28 March 2020

exact match

0 references

cites work

A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere's disease.

1 reference

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Can whole-exome sequencing data be used for linkage analysis?

22 May 2018

1 reference

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The use of whole-exome sequencing to disentangle complex phenotypes

22 May 2018

1 reference

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Genetic aspects and clinical characteristics of familial Meniere's disease in a South Korean population.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Accompanying Symptoms Overlap during Attacks in Menière's Disease and Vestibular Migraine

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Intronic variants in the NFKB1 gene may influence hearing forecast in patients with unilateral sensorineural hearing loss in Meniere's disease

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Semaphorin 3d and semaphorin 3e direct endothelial motility through distinct molecular signaling pathways

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Deafness gene expression patterns in the mouse cochlea found by microarray analysis

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Improved exome prioritization of disease genes through cross-species phenotype comparison

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Genetic evidence for an ethnic diversity in the susceptibility to Ménière's disease

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Meniere's disease might be an autoimmune condition?

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

High prevalence of systemic autoimmune diseases in patients with Menière's disease

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

A probabilistic disease-gene finder for personal genomes.

22 May 2018

1 reference

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Allergic and immunologic features of Ménière's disease

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Dermatopontin interacts with fibronectin, promotes fibronectin fibril formation, and enhances cell adhesion

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Genetic investigations of Meniere's disease

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Dermatopontin, a novel player in the biology of the extracellular matrix

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Meniere's disease: prevalence of contralateral ear involvement

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Axon guidance cues in auditory development

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

The ligand-binding face of the semaphorins revealed by the high-resolution crystal structure of SEMA4D

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Regulating actin dynamics in neuronal growth cones by ADF/cofilin and rho family GTPases

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Dermatopontin interacts with transforming growth factor beta and enhances its biological activity

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Prevalence, associated factors, and comorbid conditions for Ménière's disease

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Confirmation of GRHL2 as the gene for the DFNA28 locus.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

High incidence of Meniere-like symptoms in relatives of Meniere patients in the areas of Oulu University Hospital and Kainuu Central Hospital in Finland

14 August 2018

1 reference

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Familial clustering and genetic heterogeneity in Meniere's disease.

14 August 2018

1 reference

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Allelic variants in TLR10 gene may influence bilateral affectation and clinical course of Meniere's disease.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Vestibular migraine: diagnostic criteria.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

MICA-STR A.4 is associated with slower hearing loss progression in patients with Ménière's disease.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Genetic aspects of familial Ménière's disease.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Impact of bilaterality and headache on health-related quality of life in Meniere's disease.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Familial Ménière's disease: clinical and genetic aspects.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Familial Ménière's disease in five generations.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5255954

Diagnostic criteria for Menière's disease

14 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2016.154

inferred from DOI database lookup

7 January 2021

based on heuristic

Gluten sensitivity in Meniere's disease

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2016.154

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2016.154

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876815%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876815%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

1 reference