(Q35030967)

English

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

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scholarly article

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5 August 2017

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. (English)

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Europe PubMed Central

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5 August 2017

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X-linked intellectual disability

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disability affecting intellectual abilities

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based on heuristic

inferred from title

2

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5 August 2017

Vera M. Kalscheuer

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17

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5 August 2017

Martine Raynaud

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Martine Raynaud

10

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Richard Reinhardt

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Richard Reinhardt

20

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18

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Olaf Riess

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5 August 2017

Bettina Lipkowitz

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Bettina Lipkowitz

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5 August 2017

Luciana Musante

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Luciana Musante

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Jamel Chelly

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Arjan P M de Brouwer

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Arjan P M de Brouwer

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Anna Hackett

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Andreas Walter Kuss

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Andreas W Kuss

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Hans-Hilger Ropers

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Hans-Hilger Ropers

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5 August 2017

author name string

Lars R Jensen

1

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Bettina Moser

3

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Christopher Schroeder

5

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Andreas Tzschach

7

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Ilaria Meloni

9

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Hilde van Esch

11

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Sigrun van der Haar

15

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Wolfram Henn

16

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Michael Bonin

19

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5 August 2017

publication date

26 January 2011

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5 August 2017

number of pages

4

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European Journal of Human Genetics

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19

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6

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5 August 2017

717-720

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5 August 2017

Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110040

8 July 2018

The genetic landscape of intellectual disability arising from chromosome X.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110040

8 July 2018

Hybrid selection of discrete genomic intervals on custom-designed microarrays for massively parallel sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110040

8 July 2018

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110040

8 July 2018

An overview of custom array sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110040

8 July 2018

Genetics of intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110040

8 July 2018

Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110040

8 July 2018

High prevalence of SLC6A8 deficiency in X-linked mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110040

8 July 2018

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110040

8 July 2018

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110040

8 July 2018

The epidemiology of mental retardation: challenges and opportunities in the new millennium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110040

8 July 2018

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.244

21 January 2018

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.244

21 January 2018

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.244

21 January 2018

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.244

21 January 2018

High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays

1 reference

https://pubmed.ncbi.nlm.nih.gov/21267006

12 December 2020

based on heuristic

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Identifiers

10.1038/EJHG.2010.244

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PMC publication ID

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Europe PubMed Central

PubMed publication ID

5 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

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