(Q42367931)

28 October 2017

0 references

Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing (English)

1 reference

28 October 2017

Marco De Gobbi

14

1 reference

ORCID Public Data File 2021

author name string

Ludovica Ferbo

1

1 reference

28 October 2017

Paola M Manzini

2

1 reference

28 October 2017

Sadaf Badar

3

1 reference

28 October 2017

Natascia Campostrini

4

1 reference

28 October 2017

Alberto Ferrarini

5

1 reference

28 October 2017

Massimo Delledonne

6

1 reference

28 October 2017

Tiziana Francisci

7

1 reference

28 October 2017

Valter Tassi

8

1 reference

28 October 2017

Adriano Valfrè

9

1 reference

28 October 2017

Anna M Dall'omo

10

1 reference

28 October 2017

Sergio D'antico

11

1 reference

28 October 2017

Domenico Girelli

12

1 reference

28 October 2017

Antonella Roetto

13

1 reference

28 October 2017

28 April 2016

1 reference

Blood transfusion = Trasfusione del sangue

28 October 2017

1 reference

28 October 2017

14

1 reference

28 October 2017

6

1 reference

28 October 2017

531-534

1 reference

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).

28 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5111378

Application of next-generation sequencing technologies in Neurology

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5111378

Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5111378

Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5111378

A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5111378

Ferroportin disease: a systematic meta-analysis of clinical and molecular findings

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5111378

Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5111378

Evaluation of hepcidin isoforms in hemodialysis patients by a proteomic approach based on SELDI-TOF MS.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5111378

Hereditary hemochromatosis due to resistance to hepcidin: high hepcidin concentrations in a family with C326S ferroportin mutation

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5111378

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5111378

Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5111378

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5111378

Impact of D181V and A69T on the function of ferroportin as an iron export pump and hepcidin receptor.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5111378

Monitoring of hepcidin levels in a patient with G80S-linked ferroportin disease undergoing iron depletion by phlebotomy

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5111378

Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5111378

Hepcidin is decreased in TFR2 hemochromatosis

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5111378

Immunoassay for human serum hepcidin

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5111378

Heterogeneity of hemochromatosis in Italy

30 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27177411

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.2450/2016.0286-15

1 reference

28 October 2017

1 reference

28 October 2017

PubMed publication ID

27177411

1 reference