Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome (Q33676149)

28 July 2017

title

Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome (English)

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28 July 2017

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J N Macpherson

1

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28 July 2017

G Curtis

2

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28 July 2017

J A Crolla

3

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28 July 2017

N Dennis

4

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28 July 2017

B Migeon

5

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28 July 2017

P K Grewal

6

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28 July 2017

M C Hirst

7

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28 July 2017

K E Davies

8

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28 July 2017

P A Jacobs

9

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28 July 2017

language of work or name

English

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publication date

1 March 1995

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

32

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28 July 2017

issue

3

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28 July 2017

page(s)

236-239

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Clues to the pathogenesis of familial colorectal cancer

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=1050327

Genetic mapping of a locus predisposing to human colorectal cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050327

Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050327

Population studies of the fragile X: a molecular approach

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050327

A complex mutable polymorphism located within the fragile X gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050327

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050327

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050327

Frequency and stability of the fragile X premutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050327

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050327

Mismatch repair genes on chromosomes 2p and 3p account for a major share of hereditary nonpolyposis colorectal cancer families evaluable by linkage.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050327

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050327

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=1050327

Absence of expression of the FMR-1 gene 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=1050327

Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050327

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=1050327

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050327

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050327

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050327

Derepression with decreased expression of the G6PD locus on the inactive X chromosome in normal human cells

30 October 2018

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12 December 2020

Genetic mapping of a second locus predisposing to hereditary non–polyposis colon cancer

1 reference

12 December 2020

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12 December 2020

Recombination of DXS548 (RS46) with the FRAXA locus

1 reference

12 December 2020

Precursor arrays for triplet repeat expansion at the fragile X locus

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12 December 2020

Identifiers

DOI

10.1136/JMG.32.3.236

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28 July 2017

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28 July 2017

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