Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males (Q54413738)

29 May 2018

https://api.crossref.org/works/10.1002/AJMG.A.33626

title

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males (English)

1 reference

2 July 2024

6

Michael E Zwick

1 reference

29 May 2018

author name string

Bradford Coffee

5

1 reference

29 May 2018

Stephen C. Collins

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20799337

2 July 2024

Steven M. Bray

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20799337

2 July 2024

Joshua A. Suhl

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20799337

2 July 2024

David J. Cutler

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20799337

2 July 2024

Stephen T. Warren

7

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2 July 2024

language of work or name

English

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publication date

1 October 2010

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29 May 2018

full work available at URL

https://europepmc.org/articles/pmc2946449?pdf=render

file format

Portable Document Format

online access status

open access

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20799337/pdf/?tool=EBI

2 July 2024

file format

Portable Document Format

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20799337

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20799337/?tool=EBI

2 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20799337

https://europepmc.org/articles/PMC2946449

2 July 2024

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20799337

https://europepmc.org/articles/PMC2946449?pdf=render

2 July 2024

file format

Portable Document Format

online access status

open access

content deliverer

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20799337

https://doi.org/10.1002/ajmg.a.33626

2 July 2024

online access status

open access

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https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.33626

2 July 2024

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https://api.crossref.org/works/10.1002/AJMG.A.33626

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.33626

2 July 2024

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https://api.crossref.org/works/10.1002/AJMG.A.33626

American Journal of Medical Genetics

2 July 2024

published in

1 reference

29 May 2018

volume

152A

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29 May 2018

issue

10

1 reference

29 May 2018

page(s)

2512-2520

1 reference

29 May 2018

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

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Combining microarray-based genomic selection (MGS) with the Illumina Genome Analyzer platform to sequence diploid target regions

4 June 2018

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4 June 2018

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4 June 2018

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4 June 2018

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Quantification of rare allelic variants from pooled genomic DNA

4 June 2018

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The diploid genome sequence of an Asian individual

4 June 2018

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4 June 2018

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Fragile X mental retardation protein FMRP binds mRNAs in the nucleus

4 June 2018

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SNP frequency estimation using massively parallel sequencing of pooled DNA.

4 June 2018

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Next-generation DNA sequencing

4 June 2018

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Mapping short DNA sequencing reads and calling variants using mapping quality scores

4 June 2018

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Substantial biases in ultra-short read data sets from high-throughput DNA sequencing

4 June 2018

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The complete genome of an individual by massively parallel DNA sequencing

4 June 2018

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The microRNA.org resource: targets and expression

4 June 2018

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The diploid genome sequence of an individual human

4 June 2018

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Multigene amplification and massively parallel sequencing for cancer mutation discovery

4 June 2018

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

4 June 2018

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PMUT: a web-based tool for the annotation of pathological mutations on proteins.

4 June 2018

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Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes

4 June 2018

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4 June 2018

Human MicroRNA targets

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Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects.

4 June 2018

1 reference

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The roles of Sp1, Sp3, USF1/USF2 and NRF-1 in the regulation and three-dimensional structure of the Fragile X mental retardation gene promoter

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

SIFT: Predicting amino acid changes that affect protein function

4 June 2018

1 reference

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Human non-synonymous SNPs: server and survey

4 June 2018

1 reference

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Interaction of the transcription factors USF1, USF2, and alpha -Pal/Nrf-1 with the FMR1 promoter. Implications for Fragile X mental retardation syndrome

4 June 2018

1 reference

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A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein

4 June 2018

1 reference

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FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association

4 June 2018

1 reference

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Analysis of domains affecting intracellular localization of the FMRP protein.

4 June 2018

1 reference

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In vitro reactivation of the FMR1 gene involved in fragile X syndrome

4 June 2018

1 reference

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Improved splice site detection in Genie

4 June 2018

1 reference

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Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

A nuclear role for the Fragile X mental retardation protein

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

Severe mental retardation and macroorchidism without mutation in the FMR1 gene

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

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

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

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

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

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

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

DNA methylation represses FMR-1 transcription in fragile X syndrome

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

Deep sequencing to reveal new variants in pooled DNA samples

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

AP-2alpha selectively regulates fragile X mental retardation-1 gene transcription during embryonic development.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

Occupancy and synergistic activation of the FMR1 promoter by Nrf-1 and Sp1 in vivo

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

Prevalence of the fragile X syndrome in Yugoslav patients with non-specific mental retardation.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

Screening for fragile X syndrome: results from a school for mentally retarded children.

13 August 2018

1 reference

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Single-strand conformation polymorphism analysis in the FMR1 gene.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

Point mutation analysis of the FMR-1 gene in autism

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

In vitro DNA methylation inhibits FMR-1 promoter.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

Rare variants in the promoter of the fragile X syndrome gene (FMR1)

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946449

The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals

30 November 2018

1 reference

12 December 2020

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

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

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

Severe mental retardation and macroorchidism without mutation in the FMR1 gene

https://api.crossref.org/works/10.1002/AJMG.A.33626

46

1 reference

2 July 2024

Identifiers

DOI

10.1002/AJMG.A.33626

1 reference

29 May 2018

PMC publication ID

2946449

1 reference

29 May 2018

1 reference

29 May 2018