(Q38317054)

English

Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism.

scientific article published in February 2006

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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:16395671%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16395671%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

6

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Europe PubMed Central

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15 January 2020

José Antonio García Erce

7

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Europe PubMed Central

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15 January 2020

3

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Europe PubMed Central

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15 January 2020

author name string

Francesca Ferrari

1

1 reference

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15 January 2020

Barbara Foglieni

2

1 reference

Europe PubMed Central

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15 January 2020

Clara Camaschella

4

1 reference

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15 January 2020

Filomena Daraio

5

1 reference

Europe PubMed Central

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15 January 2020

Carole Beaumont

8

1 reference

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15 January 2020

Mario Cazzola

9

1 reference

Europe PubMed Central

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15 January 2020

Maurizio Ferrari

10

1 reference

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15 January 2020

Laura Cremonesi

11

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15 January 2020

publication date

1 February 2006

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15 January 2020

1 reference

Europe PubMed Central

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15 January 2020

27

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15 January 2020

2

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15 January 2020

201-208

1 reference

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15 January 2020

Development of a universal probe for electronic microarray and its application in characterization of the Staphylococcus aureus polC gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

21 January 2018

Rapid genotyping of common MeCP2 mutations with an electronic DNA microchip using serial differential hybridization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

21 January 2018

Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of New Mutations of the HFE, Hepcidin, and Transferrin Receptor 2 Genes by Denaturing HPLC Analysis of Individuals with Biochemical Indications of Iron Overload

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

7 January 2021

based on heuristic

inferred from DOI database lookup

C29G in the iron-responsive element of L-ferritin: a new mutation associated with hyperferritinemia-cataract

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel deletion of the l-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

7 January 2021

based on heuristic

inferred from DOI database lookup

Scanning mutations of the 5'UTR regulatory sequence of l-ferritin by denaturing high-performance liquid chromatography: identification of new mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

7 January 2021

based on heuristic

inferred from DOI database lookup

Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

7 January 2021

based on heuristic

inferred from DOI database lookup

Feasibility study for a microchip-based approach for noninvasive prenatal diagnosis of genetic diseases.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

7 January 2021

based on heuristic

inferred from DOI database lookup

Beta-thalassemia microelectronic chip: a fast and accurate method for mutation detection.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

7 January 2021

based on heuristic

inferred from DOI database lookup

Improvement of low-density microelectronic array technology to characterize 14 mutations/single-nucleotide polymorphisms from several human genes on a large scale

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

7 January 2021

based on heuristic

inferred from DOI database lookup

Single nucleotide polymorphic discrimination by an electronic dot blot assay on semiconductor microchips

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

7 January 2021

based on heuristic

inferred from DOI database lookup

An improved electronic microarray-based diagnostic assay for identification of MEFV mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

7 January 2021

based on heuristic

inferred from DOI database lookup

Pathogenesis of hyperferritinemia cataract syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid determination of single base mismatch mutations in DNA hybrids by direct electric field control

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

7 January 2021

based on heuristic

inferred from DOI database lookup

Sequence dependence of energy transfer in DNA oligonucleotides

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20294

7 January 2021

based on heuristic

inferred from DOI database lookup

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