Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec (Q42656099)

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scientific article published on 10 May 2005

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English	Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec	scientific article published on 10 May 2005

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instance of

scholarly article

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stated in

Europe PubMed Central

PubMed publication ID

15883838

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4 November 2017

title

Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec (English)

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Europe PubMed Central

PubMed publication ID

15883838

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4 November 2017

main subject

myotonic dystrophy

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inferred from title

founder effect

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author

Evelyne Heyer

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14

object named as

Evelyne Heyer

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Bruno Toupance

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Bruno Toupance

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13

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Ewa Zietkiewicz

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Ewa Zietkiewicz

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3

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Claude Laberge

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16

object named as

Claude Laberge

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author name string

Vania Yotova

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1

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Europe PubMed Central

PubMed publication ID

15883838

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4 November 2017

Damian Labuda

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2

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PubMed publication ID

15883838

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4 November 2017

Dominik Gehl

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4

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PubMed publication ID

15883838

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4 November 2017

Alan Lovell

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5

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15883838

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4 November 2017

Jean-François Lefebvre

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6

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15883838

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4 November 2017

Stéphane Bourgeois

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7

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15883838

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Emilie Lemieux-Blanchard

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8

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15883838

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4 November 2017

Marcin Labuda

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9

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15883838

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4 November 2017

Hélène Vézina

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10

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15883838

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4 November 2017

Louis Houde

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11

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15883838

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4 November 2017

Marc Tremblay

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12

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PubMed publication ID

15883838

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4 November 2017

Thomas J Hudson

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15

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PubMed publication ID

15883838

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4 November 2017

publication date

10 May 2005

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Europe PubMed Central

PubMed publication ID

15883838

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4 November 2017

published in

Human Genetics

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Europe PubMed Central

PubMed publication ID

15883838

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4 November 2017

volume

117

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Europe PubMed Central

PubMed publication ID

15883838

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4 November 2017

issue

2-3

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PubMed publication ID

15883838

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4 November 2017

page(s)

177-187

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15883838

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4 November 2017

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Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1.

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Convergent Myotonie Dystrophy (DM) Haplotypes: Potential Inconsistencies in Human Disease Gene Localization

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Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

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Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians

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Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM)

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The human genome browser at UCSC

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Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

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Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.

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Prevalence of myotonic dystrophy in Israeli Jewish communities: inter-community variation and founder premutations

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Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19

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Does (CUG)n repeat in DMPK mRNA 'paint' chromosome 19 to suppress distant genes to create the diverse phenotype of myotonic dystrophy?: A new hypothesis of long-range cis autosomal inactivation

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Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans

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based on heuristic

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Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene

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New estimates of intergenerational time intervals for the calculation of age and origins of mutations

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Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.

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The 1993-94 Généthon human genetic linkage map

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Gene mapping and the muscular dystrophies

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Mutations of Bacteria from Virus Sensitivity to Virus Resistance

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Nuclear DNA diversity in worldwide distributed human populations

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Primer3 on the WWW for general users and for biologist programmers

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Functional gene testing of the Glu298Asp polymorphism of the endothelial NO synthase

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The genetic clock and the age of the founder effect in growing populations: a lesson from French Canadians and Ashkenazim

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PubMed

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12 December 2020

based on heuristic

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French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion

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PubMed

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based on heuristic

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Founder effect and prevalence of myotonic dystrophy in South Africans: molecular studies

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based on heuristic

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An unstable triplet repeat in a gene related to myotonic muscular dystrophy

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15883838

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12 December 2020

based on heuristic

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Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada)

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High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation

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Human genetics: lessons from Quebec populations

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Detecting population growth, selection and inherited fertility from haplotypic data in humans

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A high-resolution recombination map of the human genome

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based on heuristic

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Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis

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based on heuristic

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Unstable DNA sequence in myotonic dystrophy

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PubMed

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12 December 2020

based on heuristic

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A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16

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based on heuristic

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Expansion of unstable DNA region in Japanese myotonic dystrophy patients

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12 December 2020

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Measuring the strength of associations between HLA antigens and diseases

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12 December 2020

based on heuristic

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Presymptomatic diagnosis of myotonic dystrophy

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12 December 2020

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Myotonic dystrophy: linkage with apolipoprotein E and estimation of the gene carrier status with genetic markers

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12 December 2020

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Allelic disequilibrium and allele frequency distribution as a function of social and demographic history

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12 December 2020

based on heuristic

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The DM mutation; diagnostic applications in the Finnish population

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12 December 2020

based on heuristic

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Are moment bounds on the recombination fraction between a marker and a disease locus too good to be true? Allelic association mapping revisited for simple genetic diseases in the Finnish population

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12 December 2020

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Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis

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Identifiers

DOI

10.1007/S00439-005-1298-8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15883838

retrieved

4 November 2017

Dimensions Publication ID

1049921980

0 references

PubMed publication ID

15883838

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15883838

retrieved

4 November 2017

ResearchGate publication ID

7856941

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