(Q33833294)

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A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome.

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15096559%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15096559%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

8

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15096559%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

author name string

Abdullah Karadag

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15096559%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Mara Riminucci

2

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15096559%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Paolo Bianco

3

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27 December 2019

Natasha Cherman

4

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27 December 2019

Sergei A Kuznetsov

5

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27 December 2019

Nga Nguyen

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15096559%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Michael T Collins

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15096559%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Larry W Fisher

9

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15096559%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

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19 April 2004

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27 December 2019

Nucleic Acids Research

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15096559%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

32

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Europe PubMed Central

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27 December 2019

7

1 reference

Europe PubMed Central

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27 December 2019

e63

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15096559%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Is McCune-Albright syndrome overlooked in subjects with fibrous dysplasia of bone?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Presence of mitochondrial tRNA(Leu(UUR)) A to G 3243 mutation in DNA extracted from serum and plasma of patients with type 2 diabetes mellitus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Multiplex PCR/LDR for detection of K-ras mutations in primary colon tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Application of fluorescence resonance energy transfer in the clinical laboratory: routine and research

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Detection of the hereditary hemochromatosis gene mutation by real-time fluorescence polymerase chain reaction and peptide nucleic acid clamping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gsalpha-mutated skeletal progenitor cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Multiplex fluorescence-based primer extension method for quantitative mutation analysis of mitochondrial DNA and its diagnostic application for Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Single base pair mutation analysis by PNA directed PCR clamping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Sequence-selective recognition of DNA by strand displacement with a thymine-substituted polyamide

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Antisense and Antigene Properties of Peptide Nucleic Acids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

28 July 2018

Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

29 October 2018

Osteomalacic and hyperparathyroid changes in fibrous dysplasia of bone: core biopsy studies and clinical correlations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

29 October 2018

Quantitation of heteroplasmy in mitochondrial DNA mutations by primer extension using Vent(R)(exo-) DNA polymerase and RFLP analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

29 October 2018

Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

29 October 2018

An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

29 October 2018

Overexcited or inactive: ion channels in muscle disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=407839

29 October 2018

Detection and quantification of the A3243G mutation of mitochondrial DNA by ligation detection reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/15096559

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variability in the ratio of mutant to wildtype myosin heavy chain present in the soleus muscle of patients with familial hypertrophic cardiomyopathy. A new approach for the quantification of mutant to wildtype protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/15096559

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel GNAS1 mutation, R201G, in McCune-albright syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15096559

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone

1 reference

https://pubmed.ncbi.nlm.nih.gov/15096559

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/15096559

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative determination of heteroplasmy in Leber's hereditary optic neuropathy by single-strand conformation polymorphism

1 reference

https://pubmed.ncbi.nlm.nih.gov/15096559

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accumulation of somatic nucleotide substitutions in mitochondrial DNA associated with the 3243 A-to-G tRNA(leu)(UUR) mutation in encephalomyopathy and cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15096559

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accumulation of deletions and point mutations in mitochondrial genome in degenerative diseases.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15096559

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct detection of multiple point mutations in mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/15096559

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/NAR/GNH059

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15096559%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15096559%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15096559%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

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