(Q48062203)

8 February 2018

title

Fragile X founder effects and new mutations in Finland (English)

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8 February 2018

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Zhong N

1

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8 February 2018

Kajanoja E

2

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8 February 2018

Smits B

3

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8 February 2018

Pietrofesa J

4

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8 February 2018

Curley D

5

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8 February 2018

Wang D

6

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8 February 2018

Ju W

7

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8 February 2018

Nolin S

8

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8 February 2018

Dobkin C

9

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8 February 2018

Ryynänen M

10

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8 February 2018

Brown WT

11

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8 February 2018

publication date

1 July 1996

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8 February 2018

American Journal of Medical Genetics Part A

published in

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8 February 2018

volume

64

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8 February 2018

issue

1

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8 February 2018

page(s)

226-233

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8 February 2018

Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate

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1 reference

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Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

21 January 2018

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A point mutation in the FMR-1 gene associated with fragile X mental retardation

21 January 2018

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Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients

21 January 2018

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Length of uninterrupted CGG repeats determines instability in the FMR1 gene

21 January 2018

1 reference

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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

21 January 2018

1 reference

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Fragile X syndrome without CCG amplification has an FMR1 deletion

21 January 2018

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The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes

21 January 2018

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Origins of the fragile X syndrome mutation

21 January 2018

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Two new cases of FMR1 deletion associated with mental impairment.

21 January 2018

1 reference

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Huntington disease in Finland: a molecular and genealogical study

21 January 2018

1 reference

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Cystic fibrosis in Finland: a molecular and genealogical study

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation

21 January 2018

1 reference

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A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C226%3A%3AAID-AJMG41%3E3.0.CO%3B2-M

Absence of expression of the FMR-1 gene in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C226%3A%3AAID-AJMG41%3E3.0.CO%3B2-M

Dynamic mutations: a new class of mutations causing human disease

21 January 2018

1 reference

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Carrier diagnosis of the fragile X syndrome--a challenge in antenatal clinics.

21 January 2018

1 reference

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The fragile X syndrome: no evidence for any recent mutations

21 January 2018

1 reference

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Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C226%3A%3AAID-AJMG41%3E3.0.CO%3B2-M

Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C226%3A%3AAID-AJMG41%3E3.0.CO%3B2-M

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

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C226%3A%3AAID-AJMG41%3E3.0.CO%3B2-M

A complex mutable polymorphism located within the fragile X gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C226%3A%3AAID-AJMG41%3E3.0.CO%3B2-M

Fragile X founder chromosome effects: linkage disequilibrium or microsatellite heterogeneity?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C226%3A%3AAID-AJMG41%3E3.0.CO%3B2-M

Distribution of FMR-1 and associated microsatellite alleles in a normal Chinese population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C226%3A%3AAID-AJMG41%3E3.0.CO%3B2-M

A survey of FRAXE allele sizes in three populations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C226%3A%3AAID-AJMG41%3E3.0.CO%3B2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C226%3A%3AAID-AJMG41%3E3.0.CO%3B2-M

Founder effect in a Belgian-Dutch fragile X population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C226%3A%3AAID-AJMG41%3E3.0.CO%3B2-M

Precursor arrays for triplet repeat expansion at the fragile X locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C226%3A%3AAID-AJMG41%3E3.0.CO%3B2-M

Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C226%3A%3AAID-AJMG41%3E3.0.CO%3B2-M

Evidence of founder chromosomes in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C226%3A%3AAID-AJMG41%3E3.0.CO%3B2-M

Haplotype analysis at the FRAXA locus in the Japanese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C226%3A%3AAID-AJMG41%3E3.0.CO%3B2-M

Fragile X "gray zone" alleles: AGG patterns, expansion risks, and associated haplotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C226%3A%3AAID-AJMG41%3E3.0.CO%3B2-M

10.1002/(SICI)1096-8628(19960712)64:1<226::AID-AJMG41>3.0.CO;2-M

21 January 2018

Identifiers

DOI

1 reference

8 February 2018

1 reference

8 February 2018