Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype (Q33539785)

27 July 2017

title

Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype (English)

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27 July 2017

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8

Michael E Zwick

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27 July 2017

Stephen C Collins

1

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27 July 2017

Brad Coffee

2

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27 July 2017

Paul J Benke

3

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27 July 2017

Elizabeth Berry-Kravis

4

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27 July 2017

Fred Gilbert

5

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27 July 2017

Ben Oostra

6

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27 July 2017

Dicky Halley

7

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27 July 2017

David J Cutler

9

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27 July 2017

Stephen T Warren

10

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27 July 2017

language of work or name

English

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publication date

5 March 2010

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27 July 2017

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27 July 2017

volume

5

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27 July 2017

issue

3

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27 July 2017

page(s)

e9476

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Creative Commons Attribution 4.0 International

27 July 2017

copyright license

start time

5 March 2010

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

The story of Rett syndrome: from clinic to neurobiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832695

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832695

High-throughput variation detection and genotyping using microarrays

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832695

Severe mental retardation and macroorchidism without mutation 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=2832695

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832695

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832695

Intragenic loss of function mutations demonstrate the primary role of FMR1 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=2832695

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=2832695

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832695

Fragile X syndrome without CCG amplification has an FMR1 deletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832695

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832695

Microarray-based genomic selection for high-throughput resequencing

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832695

Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832695

Single-strand conformation polymorphism analysis in the FMR1 gene

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832695

Point mutation analysis of the FMR-1 gene in autism

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832695

No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832695

Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome

31 October 2018

1 reference

12 December 2020

Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0009476

Identifiers

DOI

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27 July 2017

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27 July 2017

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