(Q53199534)

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Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.

scientific article published in June 2016

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5 March 2020

Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload (English)

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5 March 2020

Luciano Xumerle

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5 March 2020

Roberto Pozzi Mucelli

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5 March 2020

Alejandro Giorgetti

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5 March 2020

Oliviero Olivieri

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5 March 2020

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Sadaf Badar

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5 March 2020

Fabiana Busti

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5 March 2020

Alberto Ferrarini

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5 March 2020

Paolo Bozzini

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5 March 2020

Paola Capelli

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5 March 2020

Natascia Campostrini

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5 March 2020

Giovanna De Matteis

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5 March 2020

Sergio Marin Vargas

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5 March 2020

Massimo Delledonne

12

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5 March 2020

Domenico Girelli

14

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5 March 2020

publication date

1 June 2016

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5 March 2020

American Journal of Hematology

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5 March 2020

91

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5 March 2020

4

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5 March 2020

420-425

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5 March 2020

Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Current approach to hemochromatosis

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Systemic iron homeostasis

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Two to tango: regulation of Mammalian iron metabolism

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Reduced serum hepcidin levels in patients with chronic hepatitis C.

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

The metabolic syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Revaluation of clinical and histological criteria for diagnosis of dysmetabolic iron overload syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

EASL clinical practice guidelines for HFE hemochromatosis

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Clinical, pathological, and molecular correlates in ferroportin disease: a study of two novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

The ferroportin disease

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Hemochromatosis due to mutations in transferrin receptor 2.

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Non-HFE hemochromatosis.

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Molecular genetic testing and the future of clinical genomics

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Applications of high-throughput DNA sequencing to benign hematology

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Clinical exome sequencing for genetic identification of rare Mendelian disorders

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Enrichment of target sequences for next-generation sequencing applications in research and diagnostics

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Guidelines for diagnostic next-generation sequencing

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Next-generation sequencing: Application of a novel platform to analyze atypical iron disorders.

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis.

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Hereditary hemochromatosis--a new look at an old disease

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Towards a European consensus for reporting incidental findings during clinical NGS testing

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

VMD: visual molecular dynamics

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Pfam: the protein families database

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

SCOP: a structural classification of proteins database for the investigation of sequences and structures

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

The Protein Data Bank. A computer-based archival file for macromolecular structures

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

UCSF Chimera--a visualization system for exploratory research and analysis

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Electrostatics of nanosystems: application to microtubules and the ribosome

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Nonsense-mediated mRNA decay (NMD) mechanisms

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia

1 reference

https://api.crossref.org/works/10.1002%2FAJH.24304

21 January 2018

Identifiers

10.1002/AJH.24304

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26799139%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26799139%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

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