(Q34388211)

1 August 2017

title

Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31 (English)

1 reference

autosomal dominant distal myopathy

1 August 2017

1 reference

1 reference

7

Rouleau GA

1 reference

1 August 2017

Feit H

1

1 reference

1 August 2017

Silbergleit A

2

1 reference

1 August 2017

Schneider LB

3

1 reference

1 August 2017

Gutierrez JA

4

1 reference

1 August 2017

Fitoussi RP

5

1 reference

1 August 2017

Réyès C

6

1 reference

1 August 2017

Brais B

8

1 reference

1 August 2017

Jackson CE

9

1 reference

1 August 2017

Beckmann JS

10

1 reference

1 August 2017

Seboun E

11

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 December 1998

1 reference

American Journal of Human Genetics

1 August 2017

number of pages

11

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

1 August 2017

volume

63

1 reference

1 August 2017

issue

6

1 reference

1 August 2017

page(s)

1732-1742

1 reference

Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Identification of a genetic locus for familial atrial fibrillation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Parametric and nonparametric linkage analysis: a unified multipoint approach

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Cloning and sequencing of a human cDNA encoding a putative transcription factor containing a bromodomain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

A comprehensive genetic map of the human genome based on 5,264 microsatellites

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Autosomal dominant distal myopathy: linkage to chromosome 14.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Toward fully automated genotyping: genotyping microsatellite markers by deconvolution.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Hereditary distal spinal muscular atrophy with vocal cord paralysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Computer-simulation methods in human linkage analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

A second-generation linkage map of the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Faster linkage analysis computations for pedigrees with loops or unused alleles.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377645

Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9837826

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9837826

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302166

1 reference

1 August 2017

1 reference

1 August 2017

1 reference