(Q48915184)

16 February 2018

title

Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease. (English)

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16 February 2018

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linkage disequilibrium

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K Endo

1

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16 February 2018

H Sasaki

2

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16 February 2018

A Wakisaka

3

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16 February 2018

H Tanaka

4

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16 February 2018

M Saito

5

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16 February 2018

S Igarashi

6

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16 February 2018

Y Takiyama

7

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16 February 2018

K Sanpei

8

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16 February 2018

K Iwabuchi

9

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16 February 2018

Y Suzuki

10

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16 February 2018

K Onari

11

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16 February 2018

T Suzuki

12

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16 February 2018

J Weissenbach

13

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16 February 2018

J L Weber

14

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16 February 2018

Y Nomura

15

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16 February 2018

M Segawa

16

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16 February 2018

M Nishizawa

17

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16 February 2018

S Tsuji

18

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16 February 2018

publication date

1 September 1996

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16 February 2018

American Journal of Medical Genetics Part A

published in

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16 February 2018

volume

67

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16 February 2018

issue

5

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16 February 2018

page(s)

437-444

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16 February 2018

Measuring the strength of associations between HLA antigens and diseases

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Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions

21 January 2018

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A comparison of linkage disequilibrium measures for fine-scale mapping

21 January 2018

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Machado-Joseph-Azorean disease. A ten-year study.

21 January 2018

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

21 January 2018

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Eight families with Joseph's disease in India

21 January 2018

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CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

21 January 2018

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A new family with Joseph disease in Japan. Homovanillic acid, magnetic resonance, and sleep apnea studies.

21 January 2018

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Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

21 January 2018

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Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

21 January 2018

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Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

21 January 2018

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Machado-Joseph disease in an American-Italian family

21 January 2018

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The Huntington's disease candidate region exhibits many different haplotypes

21 January 2018

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Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts

21 January 2018

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Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

21 January 2018

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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

21 January 2018

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CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission, and correlation with disease phenotype.

21 January 2018

1 reference

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DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence

21 January 2018

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Machado-Joseph disease in a Sicilian-American family.

21 January 2018

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The gene for Machado-Joseph disease maps to human chromosome 14q

21 January 2018

1 reference

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Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960920%2967%3A5%3C437%3A%3AAID-AJMG1%3E3.0.CO%3B2-H

Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960920%2967%3A5%3C437%3A%3AAID-AJMG1%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

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Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity.

21 January 2018

1 reference

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Fragile X genotype characterized by an unstable region of DNA.

21 January 2018

1 reference

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Genetic Linkage Studies of Machado-Joseph Disease with Chromosome 14q STRPs in 16 Portuguese-Azorean Kindreds

21 January 2018

1 reference

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Machado-Joseph-Azorean disease in India

21 January 2018

1 reference

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Presumably Azorean disease in a presumably non-Portuguese family

21 January 2018

1 reference

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Origin of the expansion mutation in myotonic dystrophy

21 January 2018

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Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorena Portuguese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960920%2967%3A5%3C437%3A%3AAID-AJMG1%3E3.0.CO%3B2-H

Evidence of founder chromosomes in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960920%2967%3A5%3C437%3A%3AAID-AJMG1%3E3.0.CO%3B2-H

Joseph disease in a non-Portuguese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960920%2967%3A5%3C437%3A%3AAID-AJMG1%3E3.0.CO%3B2-H

A large Japanese family with Machado-Joseph disease: clinical and genetic studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960920%2967%3A5%3C437%3A%3AAID-AJMG1%3E3.0.CO%3B2-H

Joseph's disease: clinical and pathological studies in a Japanese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960920%2967%3A5%3C437%3A%3AAID-AJMG1%3E3.0.CO%3B2-H

10.1002/(SICI)1096-8628(19960920)67:5<437::AID-AJMG1>3.0.CO;2-H

21 January 2018

Identifiers

DOI

1 reference

16 February 2018

release_6sutshx4jfhslgkojameubizca

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6sutshx4jfhslgkojameubizca

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

16 February 2018