-
3
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13: 399-408
-
(1996)
Nat Genet
, vol.13
, pp. 399-408
-
-
Feder, J.N.1
Gnirke, A.2
Thomas, W.3
-
4
-
-
0032955556
-
Molecular medicine and hemochromatosis: At the crossroads
-
Bacon BR, Powell LW, Adams PC, Kresina TF, Hoofnagle JH. Molecular medicine and hemochromatosis: at the crossroads. Gastroenterology 1999; 116: 193-207
-
(1999)
Gastroenterology
, vol.116
, pp. 193-207
-
-
Bacon, B.R.1
Powell, L.W.2
Adams, P.C.3
Kresina, T.F.4
Hoofnagle, J.H.5
-
5
-
-
0346753577
-
A European allele map of the C282Y mutation of hemochromatosis: Celtic versus Viking origin of the mutation?
-
Lucotte G, Dieterlen F. A European allele map of the C282Y mutation of hemochromatosis: Celtic versus Viking origin of the mutation? Blood Cells Mol Dis 2003; 31: 262-267
-
(2003)
Blood Cells Mol Dis
, vol.31
, pp. 262-267
-
-
Lucotte, G.1
Dieterlen, F.2
-
7
-
-
0030827084
-
The significance of the 187G (H63D) mutation in hemochromatosis
-
Beutler E. The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet 1997; 61: 762-764
-
(1997)
Am J Hum Genet
, vol.61
, pp. 762-764
-
-
Beutler, E.1
-
8
-
-
33750819627
-
The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis
-
Walsh A, Dixon JL, Ramm GA, et al. The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis. Clin Gastroenterol Hepatol 2006; 4: 1403-1410
-
(2006)
Clin Gastroenterol Hepatol
, vol.4
, pp. 1403-1410
-
-
Walsh, A.1
Dixon, J.L.2
Ramm, G.A.3
-
9
-
-
10844258104
-
Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
-
Nemeth E, Tuttle MS, Powelson J, et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 2004; 306: 2090-2093
-
(2004)
Science
, vol.306
, pp. 2090-2093
-
-
Nemeth, E.1
Tuttle, M.S.2
Powelson, J.3
-
10
-
-
0037460697
-
Disrupted hepcidin regulation in HFE-Associated haemochromatosis and the liver as a regulator of body iron homoeostasis
-
Bridle KR, Frazer DM, Wilkins SJ, et al. Disrupted hepcidin regulation in HFE-Associated haemochromatosis and the liver as a regulator of body iron homoeostasis. Lancet 2003; 361: 669-673
-
(2003)
Lancet
, vol.361
, pp. 669-673
-
-
Bridle, K.R.1
Frazer, D.M.2
Wilkins, S.J.3
-
11
-
-
9144252017
-
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
-
Papanikolaou G, Samuels ME, Ludwig EH, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet 2004; 36: 77-82
-
(2004)
Nat Genet
, vol.36
, pp. 77-82
-
-
Papanikolaou, G.1
Samuels, M.E.2
Ludwig, E.H.3
-
12
-
-
20244388240
-
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
-
Roetto A, Papanikolaou G, Politou M, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 2003; 33: 21-22
-
(2003)
Nat Genet
, vol.33
, pp. 21-22
-
-
Roetto, A.1
Papanikolaou, G.2
Politou, M.3
-
13
-
-
0034022636
-
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
-
Camaschella C, Roetto A, Calì A, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 2000; 25: 14-15
-
(2000)
Nat Genet
, vol.25
, pp. 14-15
-
-
Camaschella, C.1
Roetto, A.2
Calì, A.3
-
14
-
-
77957340866
-
Ferroportin disease: A systematic metaanalysis of clinical and molecular findings
-
Mayr R, Janecke AR, Schranz M, et al. Ferroportin disease: a systematic metaanalysis of clinical and molecular findings. J Hepatol 2010; 53: 941-949
-
(2010)
J Hepatol
, vol.53
, pp. 941-949
-
-
Mayr, R.1
Janecke, A.R.2
Schranz, M.3
-
15
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
The 1000 Genomes Project Consortium
-
The 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 2010; 467: 1061-1073
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
-
16
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-Throughput sequencing data
-
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-Throughput sequencing data. Nucleic Acids Res 2010; 38: e164
-
(2010)
Nucleic Acids Res
, vol.38
, pp. e164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
17
-
-
20244372858
-
Hemochromatosis and iron-overload screening in a racially diverse population
-
Hemochromatosis and Iron Overload Screening (HEIRS) Study Research Investigators
-
Adams PC, Reboussin DM, Barton JC, et al.; Hemochromatosis and Iron Overload Screening (HEIRS) Study Research Investigators. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005; 352: 1769-1778
-
(2005)
N Engl J Med
, vol.352
, pp. 1769-1778
-
-
Adams, P.C.1
Reboussin, D.M.2
Barton, J.C.3
-
18
-
-
38349079861
-
Iron-overload-related disease in HFE hereditary hemochromatosis
-
Allen KJ, Gurrin LC, Constantine CC, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 2008; 358: 221-230
-
(2008)
N Engl J Med
, vol.358
, pp. 221-230
-
-
Allen, K.J.1
Gurrin, L.C.2
Constantine, C.C.3
-
19
-
-
0038578537
-
Population screening for hemochromatosis: A study in 5370 Spanish blood donors
-
Sánchez M, Villa M, Ingelmo M, et al. Population screening for hemochromatosis: a study in 5370 Spanish blood donors. J Hepatol 2003; 38: 745-750
-
(2003)
J Hepatol
, vol.38
, pp. 745-750
-
-
Sánchez, M.1
Villa, M.2
Ingelmo, M.3
-
22
-
-
0037132786
-
Penetrance of 845G-A (C282Y) HFE hereditary haemochromatosis mutation in the USA
-
Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845G-A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002; 359: 211-218
-
(2002)
Lancet
, vol.359
, pp. 211-218
-
-
Beutler, E.1
Felitti, V.J.2
Koziol, J.A.3
Ho, N.J.4
Gelbart, T.5
-
23
-
-
5044245698
-
Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload
-
Zaahl MG, Merryweather-Clarke AT, Kotze MJ, van der Merwe S, Warnich L, Robson KJ. Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload. Hum Genet 2004; 115: 409-417
-
(2004)
Hum Genet
, vol.115
, pp. 409-417
-
-
Zaahl, M.G.1
Merryweather-Clarke, A.T.2
Kotze, M.J.3
Van Der Merwe, S.4
Warnich, L.5
Robson, K.J.6
-
24
-
-
84860814886
-
Mild iron overload in an African American man with SLC40A1 D270V
-
Lee PL, Gaasterland T, Barton JC. Mild iron overload in an African American man with SLC40A1 D270V. Acta Haematol 2012; 128: 28-32
-
(2012)
Acta Haematol
, vol.128
, pp. 28-32
-
-
Lee, P.L.1
Gaasterland, T.2
Barton, J.C.3
-
25
-
-
59649083156
-
Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter
-
Rice AE, Mendez MJ, Hokanson CA, Rees DC, Björkman PJ. Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter. J Mol Biol 2009; 386: 717-732
-
(2009)
J Mol Biol
, vol.386
, pp. 717-732
-
-
Rice, A.E.1
Mendez, M.J.2
Hokanson, C.A.3
Rees, D.C.4
Björkman, P.J.5
-
26
-
-
79953179698
-
Sex and acquired cofactors determine phenotypes of ferroportin disease
-
e1
-
Le Lan C, Mosser A, Ropert M, et al. Sex and acquired cofactors determine phenotypes of ferroportin disease. Gastroenterology 2011; 140: 1199-1207.e1
-
(2011)
Gastroenterology
, vol.140
, pp. 1199-1207
-
-
Le Lan, C.1
Mosser, A.2
Ropert, M.3
-
27
-
-
36649003076
-
Global sequencing approach for characterizing the molecular background of hereditary iron disorders
-
CHU Montpellier AOI 2004 Working Group
-
Cunat S, Giansily-Blaizot M, Bismuth M, et al.; CHU Montpellier AOI 2004 Working Group. Global sequencing approach for characterizing the molecular background of hereditary iron disorders. Clin Chem 2007; 53: 2060-2069
-
(2007)
Clin Chem
, vol.53
, pp. 2060-2069
-
-
Cunat, S.1
Giansily-Blaizot, M.2
Bismuth, M.3
-
28
-
-
84865531574
-
Mutations in the HFE, TFR2 and SLC40A1 genes in patients with hemochromatosis
-
Del-Castillo-Rueda A, Moreno-Carralero MI, Cuadrado-Grande N, et al. Mutations in the HFE, TFR2 and SLC40A1 genes in patients with hemochromatosis. Gene 2012; 508: 15-20
-
(2012)
Gene
, vol.508
, pp. 15-20
-
-
Del-Castillo-Rueda, A.1
Moreno-Carralero, M.I.2
Cuadrado-Grande, N.3
-
29
-
-
30344475534
-
Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain
-
Bach V, Remacha A, Altés A, Barceló MJ, Molina MA, Baiget M. Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain. Blood Cells Mol Dis 2006; 36: 41-45
-
(2006)
Blood Cells Mol Dis
, vol.36
, pp. 41-45
-
-
Bach, V.1
Remacha, A.2
Altés, A.3
Barceló, M.J.4
Molina, M.A.5
Baiget, M.6
-
30
-
-
84903454743
-
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients
-
Callebaut I, Joubrel R, Pissard S, et al. Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients. Hum Mol Genet 2014; 23: 4479-4490
-
(2014)
Hum Mol Genet
, vol.23
, pp. 4479-4490
-
-
Callebaut, I.1
Joubrel, R.2
Pissard, S.3
-
31
-
-
79953687361
-
Hereditary hemochromatosis: Mutations in genes involved in iron homeostasis in Brazilian patients
-
Santos PC, Cançado RD, Pereira AC, et al. Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients. Blood Cells Mol Dis 2011; 46: 302-307
-
(2011)
Blood Cells Mol Dis
, vol.46
, pp. 302-307
-
-
Santos, P.C.1
Cançado, R.D.2
Pereira, A.C.3
-
32
-
-
33644798951
-
Genetic and clinical heterogeneity of ferroportin disease
-
Cremonesi L, Forni GL, Soriani N, et al. Genetic and clinical heterogeneity of ferroportin disease. Br J Haematol. 2005; 131: 663-670
-
(2005)
Br J Haematol
, vol.131
, pp. 663-670
-
-
Cremonesi, L.1
Forni, G.L.2
Soriani, N.3
-
33
-
-
38749083019
-
SLC40A1 c.1402G-A results in aberrant splicing, ferroportin truncation after glycine 330 and an autosomal dominant hemochromatosis phenotype
-
Lee PL, Gelbart T, West C, Barton JC. SLC40A1 c.1402G-A results in aberrant splicing, ferroportin truncation after glycine 330 and an autosomal dominant hemochromatosis phenotype. Acta Haematol 2007; 118: 237-241
-
(2007)
Acta Haematol
, vol.118
, pp. 237-241
-
-
Lee, P.L.1
Gelbart, T.2
West, C.3
Barton, J.C.4
-
34
-
-
84940166646
-
Iron chelation with deferasirox in a patient with de-novo ferroportin mutation
-
Unal S, Piperno A, Gumruk F. Iron chelation with deferasirox in a patient with de-novo ferroportin mutation. J Trace Elem Med Biol 2015; 30: 1-3
-
(2015)
J Trace Elem Med Biol
, vol.30
, pp. 1-3
-
-
Unal, S.1
Piperno, A.2
Gumruk, F.3
-
35
-
-
84855566198
-
Performance comparison of whole-genome sequencing platforms
-
Lam HY, Clark MJ, Chen R, et al. Performance comparison of whole-genome sequencing platforms. Nat Biotechnol 2012; 30: 78-82
-
(2012)
Nat Biotechnol
, vol.30
, pp. 78-82
-
-
Lam, H.Y.1
Clark, M.J.2
Chen, R.3
-
36
-
-
10744225120
-
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
-
Merryweather-Clarke AT, Cadet E, Bomford A, et al. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum Mol Genet 2003; 12: 2241-2247
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2241-2247
-
-
Merryweather-Clarke, A.T.1
Cadet, E.2
Bomford, A.3
-
37
-
-
84949208967
-
Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data
-
e-pub-Ahead of print 5 March 2015
-
De Castro M, Johnston J, Biesecker L. Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data. Genet Med 2015; e-pub-Ahead of print 5 March 2015
-
(2015)
Genet Med
-
-
De Castro, M.1
Johnston, J.2
Biesecker, L.3
-
38
-
-
84864397328
-
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
-
National Heart Lung and Blood Institute (NHLBI) GO Exome Sequencing Project; Lung GO
-
Emond MJ, Louie T, Emerson J, et al.; National Heart, Lung and Blood Institute (NHLBI) GO Exome Sequencing Project; Lung GO. Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nat Genet 2012; 44: 886-889
-
(2012)
Nat Genet
, vol.44
, pp. 886-889
-
-
Emond, M.J.1
Louie, T.2
Emerson, J.3
-
39
-
-
0035009328
-
Association studies between haemochromatosis gene mutations and the risk of cardiovascular diseases
-
Hetet G, Elbaz A, Gariepy J, et al. Association studies between haemochromatosis gene mutations and the risk of cardiovascular diseases. Eur J Clin Invest 2001; 31: 382-388
-
(2001)
Eur J Clin Invest
, vol.31
, pp. 382-388
-
-
Hetet, G.1
Elbaz, A.2
Gariepy, J.3
-
40
-
-
84871680844
-
Hemochromatosis gene (HFE) polymorphisms and risk of type 2 diabetes mellitus: A meta-Analysis
-
Rong Y, Bao W, Rong S, et al. Hemochromatosis gene (HFE) polymorphisms and risk of type 2 diabetes mellitus: a meta-Analysis. Am J Epidemiol 2012; 176: 461-472
-
(2012)
Am J Epidemiol
, vol.176
, pp. 461-472
-
-
Rong, Y.1
Bao, W.2
Rong, S.3
|