(Q35644285)

9 August 2017

title

An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene (English)

1 reference

9 August 2017

1 reference

F Quan

1

1 reference

9 August 2017

J Zonana

2

1 reference

9 August 2017

K Gunter

3

1 reference

9 August 2017

K L Peterson

4

1 reference

9 August 2017

R E Magenis

5

1 reference

9 August 2017

B W Popovich

6

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9 August 2017

language of work or name

English

0 references

publication date

1 May 1995

1 reference

9 August 2017

number of pages

10

1 reference

American Journal of Human Genetics

inferred from page(s)

published in

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9 August 2017

volume

56

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9 August 2017

issue

5

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9 August 2017

page(s)

1042-1051

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

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

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12 July 2018

1 reference

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Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

Fine structure of the human FMR1 gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

Advances in molecular analysis of fragile X syndrome

12 July 2018

1 reference

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High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation

12 July 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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

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

12 July 2018

1 reference

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The 1993-94 Généthon human genetic linkage map

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

A de novo deletion in FMR1 in a patient with developmental delay

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26?qter

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

12 July 2018

A marker X chromosome

1 reference

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

A YAC contig across the fragile X site defines the region of fragility

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

Fragile X genotype characterized by an unstable region of DNA.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

New polymorphic DNA marker close to the fragile site FRAXA.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

Fragile-X syndrome: unique genetics of the heritable unstable element

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

Fragile X syndrome without CCG amplification has an FMR1 deletion

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

DNA methylation represses FMR-1 transcription in fragile X syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801461

A peculiar subphenotype in the fra(X) syndrome: extreme obesity-short stature-stubby hands and feet-diffuse hyperpigmentation. Further evidence of disturbed hypothalamic function in the fra(X) syndrome?

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7726157

12 December 2020

inferred from PubMed ID database lookup

An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7726157

12 December 2020

inferred from PubMed ID database lookup

Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7726157

12 December 2020

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1801461

1 reference

9 August 2017

1 reference