Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis (Q36900188)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8971113%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

title

Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8971113%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

0 references

Xavier Estivill i Pallejà

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8971113%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Matilde Calopa

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8971113%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

author name string

A Sánchez

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8971113%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

S Castellví-Bel

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8971113%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

M Milà

3

1 reference

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22 October 2019

D Genis

4

1 reference

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22 October 2019

D Jiménez

6

1 reference

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22 October 2019

language of work or name

English

0 references

publication date

1 December 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8971113%20AND%20SRC:MED&resulttype=core&format=json

Journal of Neurology, Neurosurgery and Psychiatry

22 October 2019

published in

1 reference

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22 October 2019

volume

61

1 reference

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22 October 2019

issue

6

1 reference

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22 October 2019

page(s)

625-627

1 reference

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Age at onset in Huntington's disease and methylation at D4S95

22 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486660

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486660

Trinucleotide repeat length instability and age of onset in Huntington's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486660

Huntington disease without CAG expansion: phenocopies or errors in assignment?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486660

Familial predisposition to recurrent mutations causing Huntington's disease: genetic risk to sibs of sporadic cases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486660

Gametic but not somatic instability of CAG repeat length in Huntington's disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486660

Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486660

A polymorphic DNA marker genetically linked to Huntington's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486660

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486660

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486660

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486660

A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486660

Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1).

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486660

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486660

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486660

De novo expansion of a (CAG)n repeat in sporadic Huntington's disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486660

Trinucleotide (CAG) repeat expansion in chromosomes of Spanish patients with Huntington's disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486660

Dynamic mutations hit double figures

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8971113

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JNNP.61.6.625

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8971113%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8971113%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

PubMed publication ID

8971113

1 reference