(Q34694743)

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Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

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scholarly article

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Europe PubMed Central

PubMed publication ID

4 August 2017

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy (English)

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Europe PubMed Central

PubMed publication ID

4 August 2017

Lambert P van den Heuvel

12

object named as

Lambert P van den Heuvel

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Europe PubMed Central

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4 August 2017

6

object named as

Rolph Pfundt

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Europe PubMed Central

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4 August 2017

author name string

Paulien Smits

1

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Europe PubMed Central

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4 August 2017

Ann Saada

2

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Europe PubMed Central

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4 August 2017

Saskia B Wortmann

3

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Europe PubMed Central

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4 August 2017

Angelien J Heister

4

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Europe PubMed Central

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4 August 2017

Maaike Brink

5

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Europe PubMed Central

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4 August 2017

Chaya Miller

7

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Europe PubMed Central

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4 August 2017

Dorothea Haas

8

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Europe PubMed Central

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4 August 2017

Ralph Hantschmann

9

1 reference

Europe PubMed Central

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4 August 2017

Richard J T Rodenburg

10

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Europe PubMed Central

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4 August 2017

Jan A M Smeitink

11

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4 August 2017

language of work or name

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publication date

29 December 2010

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Europe PubMed Central

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4 August 2017

European Journal of Human Genetics

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Europe PubMed Central

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4 August 2017

19

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Europe PubMed Central

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4 August 2017

4

1 reference

Europe PubMed Central

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4 August 2017

394-399

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.214

0 references

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

1 reference

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7 July 2018

Acute infantile liver failure due to mutations in the TRMU gene.

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7 July 2018

Electrophoresis techniques to investigate defects in oxidative phosphorylation

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7 July 2018

The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

C6ORF66 is an assembly factor of mitochondrial complex I

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

SIFT: Predicting amino acid changes that affect protein function

1 reference

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7 July 2018

Some practical aspects of providing a diagnostic service for respiratory chain defects

1 reference

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7 July 2018

Human non-synonymous SNPs: server and survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

Human NADH:ubiquinone oxidoreductase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

The small subunit of the mammalian mitochondrial ribosome. Identification of the full complement of ribosomal proteins present

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

Protein secondary structure prediction based on position-specific scoring matrices

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

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7 July 2018

Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060326

7 July 2018

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

1 reference

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7 July 2018

Regulation of ribosomal protein synthesis in Escherichia coli B/r

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7 July 2018

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.214

21 January 2018

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study

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https://api.crossref.org/works/10.1038%2FEJHG.2010.214

21 January 2018

Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.214

21 January 2018

Reconstructing the evolution of the mitochondrial ribosomal proteome.

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https://api.crossref.org/works/10.1038%2FEJHG.2010.214

21 January 2018

Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/21189481

12 December 2020

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Identifiers

10.1038/EJHG.2010.214

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Dimensions Publication ID

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

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