(Q33596071)

28 July 2017

title

Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range (English)

1 reference

28 July 2017

0 references

K E De Rooij

1

1 reference

28 July 2017

P A De Koning Gans

2

1 reference

28 July 2017

M I Skraastad

3

1 reference

28 July 2017

R D Belfroid

4

1 reference

28 July 2017

M Vegter-Van Der Vlis

5

1 reference

28 July 2017

R A Roos

6

1 reference

28 July 2017

E Bakker

7

1 reference

28 July 2017

G J Van Ommen

8

1 reference

28 July 2017

J T Den Dunnen

9

1 reference

28 July 2017

M Losekoot

10

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 December 1993

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

30

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28 July 2017

issue

12

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28 July 2017

page(s)

996-1002

1 reference

Defining the proximal border of the Huntington disease candidate region by multipoint recombination analyses

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

A polymorphic DNA marker genetically linked to Huntington's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

Merging autosomal dominance and recessivity.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

A simple salting out procedure for extracting DNA from human nucleated cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

A genetic model for age at onset in Huntington disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

Anticipation in Huntington's disease is inherited through the male line but may originate in the female

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

Mapping of recombinants near the Huntington disease locus by using G8 (D4S10) and newly isolated markers in the D4S10 region

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

Fragile X genotype characterized by an unstable region of DNA.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

Age at onset in Huntington's disease: effect of line of inheritance and patient's sex.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

Dynamic mutations: a new class of mutations causing human disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

The Huntington's disease candidate region exhibits many different haplotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

Presymptomatic, prenatal, and exclusion testing for Huntington disease using seven closely linked DNA markers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016631

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8133511

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Evidence of founder chromosomes in fragile X syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8133511

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.30.12.996

1 reference

28 July 2017

1 reference

28 July 2017

1 reference