(Q81083809)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18412117%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

review article

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title

Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature (English)

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5 January 2020

1 reference

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3

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5 January 2020

author name string

Bradford Coffee

1

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5 January 2020

Morna Ikeda

2

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5 January 2020

Lawrence N Hjelm

4

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5 January 2020

Walter E Kaufmann

5

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5 January 2020

Stephen T Warren

6

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5 January 2020

publication date

1 May 2008

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American Journal of Medical Genetics

5 January 2020

published in

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5 January 2020

volume

146A

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5 January 2020

issue

10

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5 January 2020

page(s)

1358-1367

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FMR1 gene deletion/reversion: a pitfall of fragile X carrier testing

5 January 2020

cites work

1 reference

12 December 2020

Mosaicism for FMR1 and FMR2 deletion: a new case

1 reference

12 December 2020

Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl

1 reference

12 December 2020

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

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12 December 2020

Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome

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12 December 2020

Fragile X syndrome without CCG amplification has an FMR1 deletion

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene

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12 December 2020

Two new cases of FMR1 deletion associated with mental impairment.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.

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12 December 2020

The pathophysiology of fragile x syndrome.

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12 December 2020

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

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12 December 2020

Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

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12 December 2020

Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome

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12 December 2020

Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.

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12 December 2020

A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient.

1 reference

12 December 2020

Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene

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12 December 2020

Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation

1 reference

12 December 2020

Deletion in the FMR1 gene in a fragile-X male

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12 December 2020

The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells

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12 December 2020

"Reduction" of CGG trinucleotide expansion from mother to offspring in seven fragile-X families.

1 reference

12 December 2020

Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.

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12 December 2020

Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression

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12 December 2020

Fragile X syndrome and deletions in FMR1: new case and review of the literature

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12 December 2020

Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case.

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12 December 2020

Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth.

1 reference

12 December 2020

Mosaicism for a full mutation and a normal size allele in two fragile X males

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12 December 2020

Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene.

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12 December 2020

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.

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12 December 2020

Fragile X syndrome with FMR1 and FMR2 deletion

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12 December 2020

The DNA sequence of the human X chromosome

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12 December 2020

Mosaicism for an FMR1 gene deletion in a fragile X female.

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12 December 2020

Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male.

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12 December 2020

A fragile X case with an amplification/deletion mosaic pattern.

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12 December 2020

Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification.

1 reference

12 December 2020

Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.32261

1 reference

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5 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18412117%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

PubMed publication ID

18412117

1 reference