Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy. (Q51639080)

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16 January 2020

title

Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy (English)

1 reference

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Sophie Tezenas du Montcel

16 January 2020

author

7

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16 January 2020

Gisèle Bonne

8

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16 January 2020

Rabah Ben Yaou

6

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16 January 2020

author name string

B Granger

1

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16 January 2020

L Gueneau

2

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16 January 2020

V Drouin-Garraud

3

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16 January 2020

V Pedergnana

4

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16 January 2020

F Gagnon

5

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16 January 2020

publication date

10 November 2010

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16 January 2020

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16 January 2020

volume

129

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16 January 2020

issue

2

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16 January 2020

page(s)

149-159

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https://scigraph.springernature.com/pub.10.1007/s00439-010-0909-1

16 January 2020

exact match

0 references

cites work

THE SICKLE-CELL and HAEMOGLOBIN C GENES IN SOME AFRICAN POPULATIONS

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Overdominance in the human genome and olfactory receptor activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

A genomewide assessment of inbreeding depression: gene number, function, and mode of action.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Multipoint oligogenic analysis of age-at-onset data with applications to Alzheimer disease pedigrees

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Age-of-onset of hypertension vs. a single measurement of systolic blood pressure in a combined linkage and segregation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

A score for Bayesian genome screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Identifying modifier loci in existing genome scan data

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Emery-Dreifuss muscular dystrophy - a 40 year retrospective

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Genome scan for quantitative trait loci influencing HDL levels: evidence for multilocus inheritance in familial combined hyperlipidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Identifying modifier genes of monogenic disease: strategies and difficulties.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Markov chain Monte Carlo segregation and linkage analysis for oligogenic models

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Empirical significance values for linkage analysis: trait simulation using posterior model distributions from MCMC oligogenic segregation analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Disruption of striated preferentially expressed gene locus leads to dilated cardiomyopathy in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Ascertainment correction for Markov chain Monte Carlo segregation and linkage analysis of a quantitative trait.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Modifier genes in mice and humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Joint linkage and segregation analysis under multiallelic trait inheritance: simplifying interpretations for complex traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Alkali myosin light chains in man are encoded by a multigene family that includes the adult skeletal muscle, the embryonic or atrial, and nonsarcomeric isoforms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Linkage analysis of quantitative traits for obesity, diabetes, hypertension, and dyslipidemia on the island of Kosrae, Federated States of Micronesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

The human desmin locus: gene organization and LCR-mediated transcriptional control

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Evidence for balancing selection from nucleotide sequence analyses of human G6PD

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Joint oligogenic segregation and linkage analysis using bayesian Markov chain Monte Carlo methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Multipoint linkage analysis with many multiallelic or dense diallelic markers: Markov chain-Monte Carlo provides practical approaches for genome scans on general pedigrees

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Linkage and association analyses identify a candidate region for apoB level on chromosome 4q32.3 in FCHL families

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

"Laminopathies": a wide spectrum of human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0909-1

Monte Carlo Markov chain methods for genome screening.

21 January 2018

1 reference

12 December 2020

MCMC segregation and linkage analysis

1 reference

12 December 2020

High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation

1 reference

12 December 2020

Genome scans for Q1 and Q2 on general population replicates using Loki.

1 reference

12 December 2020

The sickle-cell and haemoglobin C genes in some African populations

1 reference

12 December 2020

Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

1 reference

12 December 2020

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

1 reference

12 December 2020

Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

1 reference

12 December 2020