(Q30629302)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Family and molecular data for a fine analysis of age at onset in Huntington disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

0 references

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Emilio Di Maria

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Barbara Castellotti

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Ugo de Grazia

1 reference

ORCID Public Data File 2021

author name string

F Squitieri

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

G Sabbadini

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

P Mandich

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

C Gellera

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

E Bellone

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

E Nargi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

U de Grazia

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

M Frontali

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

publication date

1 December 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

4 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

volume

95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

366-373

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

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

4 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

Analysis of the 5' upstream sequence of the Huntington's disease (HD) gene shows six new rare alleles which are unrelated to the age at onset of HD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

Epidemiological and linkage studies on Huntington's disease in Italy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

Guidelines for the molecular genetics predictive test in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

Molecular analysis of late onset Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

Familial psychiatric presentation of Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

Predictive testing for Huntington's disease: ten years' experience in two Italian centres

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

Reduced penetrance of the Huntington's disease mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

Update on genetics of Huntington's disease: availability of direct and accurate predictive test

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001211%2995%3A4%3C366%3A%3AAID-AJMG13%3E3.0.CO%3B2-2

10.1002/1096-8628(20001211)95:4<366::AID-AJMG13>3.0.CO;2-2

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186892%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference