The fragile X premutation in carriers and its effect on mutation size in offspring (Q35644289)

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24 October 2019

title

The fragile X premutation in carriers and its effect on mutation size in offspring (English)

1 reference

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24 October 2019

author name string

G S Fisch

1

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24 October 2019

K Snow

2

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24 October 2019

S N Thibodeau

3

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24 October 2019

M Chalifaux

4

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24 October 2019

J J Holden

5

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24 October 2019

D L Nelson

6

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24 October 2019

P N Howard-Peebles

7

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24 October 2019

A Maddalena

8

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24 October 2019

language of work or name

English

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publication date

1 May 1995

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American Journal of Human Genetics

24 October 2019

published in

1 reference

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24 October 2019

volume

56

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24 October 2019

page(s)

1147-1155

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24 October 2019

issue

5

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Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

24 October 2019

cites work

1 reference

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Negative expansion of the myotonic dystrophy unstable sequence.

12 July 2018

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Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy

12 July 2018

1 reference

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A recombination-based assay demonstrates that the fragile X sequence is transcribed widely during development

12 July 2018

1 reference

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Aging and mortality: manifestations of increasing informational entropy of the genome?

12 July 2018

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

12 July 2018

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

12 July 2018

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

12 July 2018

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

12 July 2018

1 reference

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

12 July 2018

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Allele-specific replication timing of imprinted gene regions

12 July 2018

1 reference

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Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).

12 July 2018

1 reference

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Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

12 July 2018

1 reference

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Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

12 July 2018

1 reference

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Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region

12 July 2018

1 reference

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Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

12 July 2018

1 reference

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Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

12 July 2018

1 reference

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A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801463

Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.

12 July 2018

1 reference

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Length of uninterrupted CGG repeats determines instability in the FMR1 gene

12 July 2018

1 reference

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Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing

12 July 2018

1 reference

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Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801463

A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation

12 July 2018

1 reference

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Population incidence and segregation ratios in the Martin-Bell syndrome.

12 July 2018

1 reference

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Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation

12 July 2018

1 reference

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Genetic instability as the primary cause of human aging

12 July 2018

1 reference

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Genomic imprinting: a possible mechanism for the parental origin effect in Huntington's chorea

12 July 2018

2 references

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12 July 2018

12 December 2020

Anticipation in Huntington's disease is inherited through the male line but may originate in the female

1 reference

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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

12 July 2018

1 reference

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Covariate-dependent age-at-onset distributions for Huntington disease

12 July 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

12 July 2018

1 reference

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

12 July 2018

1 reference

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Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus

12 July 2018

1 reference

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A mathematical analysis of human embryonic and fetal growth data

12 July 2018

1 reference

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Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation

12 July 2018

1 reference

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The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy

12 July 2018

1 reference

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Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801463

Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801463

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801463

Population genetics of fragile X: a multiple allele model with variable risk of CGG repeat expansion.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801463

Randomness, redundancy and repair: roles and relevance to biological aging.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801463

The marker (X) syndrome: a cytogenetic and genetic analysis.

25 September 2018

1 reference

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Diagnosis of fragile X syndrome by direct mutation analysis

25 September 2018

1 reference

12 December 2020

Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island

1 reference

12 December 2020

How imprinting is relevant to human disease

1 reference

12 December 2020

Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat

1 reference

12 December 2020

Explanation for exclusive maternal origin for congenital form of myotonic dystrophy

1 reference

12 December 2020

Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy

1 reference

12 December 2020

Brief report: reverse mutation in myotonic dystrophy

1 reference

12 December 2020

Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene

1 reference

12 December 2020

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12 December 2020

Heritable unstable DNA sequences

1 reference

12 December 2020

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype

1 reference

12 December 2020

Segregation of the fragile X mutation from an affected male to his normal daughter

1 reference

12 December 2020

Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome

1 reference

12 December 2020

Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring

1 reference

12 December 2020

Improved sizing of fragile X CCG repeats by nested polymerase chain reaction

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12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726171%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference