-
1
-
-
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
-
2
-
-
0033561342
-
HFE mutations analysis in 711 hemochro-matosis probands: Evidence for S65C implication in mild form of hemo-chromatosis
-
Mura C, Raguenes O, Ferec C. HFE mutations analysis in 711 hemochro-matosis probands: evidence for S65C implication in mild form of hemo-chromatosis. Blood 1999;93:2502-2505.
-
(1999)
Blood
, vol.93
, pp. 2502-2505
-
-
Mura, C.1
Raguenes, O.2
Ferec, C.3
-
3
-
-
0035514049
-
Genetic profile of contemporary Jewish populations
-
Ostrer HA. Genetic profile of contemporary Jewish populations. Nat Rev Genet 2001;2:891-897.
-
(2001)
Nat Rev Genet
, vol.2
, pp. 891-897
-
-
Ostrer, H.A.1
-
4
-
-
8544231423
-
The Jewish people: Their ethnic history, genetic disorders and specific cancer susceptibility
-
Kedar-Barnes I, Rozen P. The Jewish people: their ethnic history, genetic disorders and specific cancer susceptibility. Fam Cancer 2004;3:193-199.
-
(2004)
Fam Cancer
, vol.3
, pp. 193-199
-
-
Kedar-Barnes, I.1
Rozen, P.2
-
6
-
-
0030839925
-
HLA-H mutations in the Ashkenazi Jewish population
-
Beutler E, Gelbart T. HLA-H mutations in the Ashkenazi Jewish population. Blood Cells Mol Dis 1997;23:95-98.
-
(1997)
Blood Cells Mol Dis
, vol.23
, pp. 95-98
-
-
Beutler, E.1
Gelbart, T.2
-
7
-
-
33644867495
-
Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity
-
Matas M, Guix P, Castro JA, et al. Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity. Clin Genet 2006;69:155-162.
-
(2006)
Clin Genet
, vol.69
, pp. 155-162
-
-
Matas, M.1
Guix, P.2
Castro, J.A.3
-
9
-
-
4043144318
-
Hemochromatosis mutations are not linked to dilated cardiomyopathy in Israeli patients
-
Goland S, Kaftouri BN, Shimoni A, Caspi S, Malnick SD. Hemochromatosis mutations are not linked to dilated cardiomyopathy in Israeli patients. Eur J Heart Failure 2004;6:547-550.
-
(2004)
Eur J Heart Failure
, vol.6
, pp. 547-550
-
-
Goland, S.1
Kaftouri, B.N.2
Shimoni, A.3
Caspi, S.4
Malnick, S.D.5
-
10
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
11
-
-
0030780201
-
A cheaper and more rapid polymerase chain reaction-restriction fragment length polymorphism method for the detection of the HLA-H gene mutations occurring in hereditary hemochromatosis
-
Lynas C. A cheaper and more rapid polymerase chain reaction-restriction fragment length polymorphism method for the detection of the HLA-H gene mutations occurring in hereditary hemochromatosis. Blood 1997;90: 4235-4236.
-
(1997)
Blood
, vol.90
, pp. 4235-4236
-
-
Lynas, C.1
-
12
-
-
20244372858
-
Hemochromatosis and iron-overload screening in a racially diverse population
-
Adams PC, Reboussin DM, Barton JC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N EnglJ Med 2005;352: 1769-1778.
-
(2005)
N EnglJ Med
, vol.352
, pp. 1769-1778
-
-
Adams, P.C.1
Reboussin, D.M.2
Barton, J.C.3
-
13
-
-
0033517343
-
A population-based study of the clinical expression of the hemochromatosis gene
-
Olynyk JK, Cullen DJ, Aquilia S, Rossi E, Summerville L, Powell LW. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 1999;341:718-724.
-
(1999)
N Engl J Med
, vol.341
, pp. 718-724
-
-
Olynyk, J.K.1
Cullen, D.J.2
Aquilia, S.3
Rossi, E.4
Summerville, L.5
Powell, L.W.6
-
14
-
-
0033862319
-
Geography of HFE C282Y and H63D mutations
-
Merryweather-Clarke AT, Pointon JJ, Jouanolle AM, Rochette J, Robson KJ. Geography of HFE C282Y and H63D mutations. Genet Test 2000;4: 183-198.
-
(2000)
Genet Test
, vol.4
, pp. 183-198
-
-
Merryweather-Clarke, A.T.1
Pointon, J.J.2
Jouanolle, A.M.3
Rochette, J.4
Robson, K.J.5
-
15
-
-
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
-
16
-
-
33646682366
-
Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in a cohort of 1000 neonates in Madrid (Spain)
-
Ropero P, Briceño O, Mateo M, et al. Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in a cohort of 1000 neonates in Madrid (Spain). Ann Hematol 2006;85:323-326.
-
(2006)
Ann Hematol
, vol.85
, pp. 323-326
-
-
Ropero, P.1
Briceño, O.2
Mateo, M.3
-
17
-
-
18344401294
-
Multicentric origin of hemochromatosis gene (HFE) mutations
-
Rochette J, Pointon JJ, Fisher CA, et al. Multicentric origin of hemochromatosis gene (HFE) mutations. Am J Hum Genet 1999;64:1056-1062.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1056-1062
-
-
Rochette, J.1
Pointon, J.J.2
Fisher, C.A.3
-
18
-
-
0031778690
-
The hemochromatosis 845 G->A and 187 C->G mutations: Prevalence in non-Caucasian populations
-
Cullen LM, Gao X, Easteal S, et al. The hemochromatosis 845 G->A and 187 C->G mutations: prevalence in non-Caucasian populations. Am J Hum Genet 1998;62:1403-1407.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1403-1407
-
-
Cullen, L.M.1
Gao, X.2
Easteal, S.3
-
19
-
-
17944369464
-
Screening for hemochromatosis: High prevalence and low morbidity in an unselected population of 65,238 persons
-
Asberg A, Hveem K, Thorstensen K, et al. Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol 2001;36:1108-1115.
-
(2001)
Scand J Gastroenterol
, vol.36
, pp. 1108-1115
-
-
Asberg, A.1
Hveem, K.2
Thorstensen, K.3
-
20
-
-
22544455045
-
Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis
-
Delatycki MB, Allen KJ, Nisselle AE, et al. Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet 2005;366:314-316.
-
(2005)
Lancet
, vol.366
, pp. 314-316
-
-
Delatycki, M.B.1
Allen, K.J.2
Nisselle, A.E.3
-
21
-
-
36549053552
-
Haemochromatosis
-
Adams PC, Barton JC. Haemochromatosis. Lancet 20071;370:1855-1860.
-
(2007)
Lancet
, vol.1
, Issue.370
, pp. 1855-1860
-
-
Adams, P.C.1
Barton, J.C.2
-
22
-
-
25444500981
-
Screening primary care patients for hereditary hemochromatosis with transferrin saturation and serum ferritin level: Systematic review for the American College of Physicians
-
Schmitt B, Golub RM, Green R. Screening primary care patients for hereditary hemochromatosis with transferrin saturation and serum ferritin level: systematic review for the American College of Physicians. Ann Intern Med 2005;143:522-536.
-
(2005)
Ann Intern Med
, vol.143
, pp. 522-536
-
-
Schmitt, B.1
Golub, R.M.2
Green, R.3
-
23
-
-
0033764751
-
Contribution of different HFE genotypes to iron overload disease: A pooled analysis
-
Burke W, Imperatore G, McDonnell SM, Baron RC, Khoury MJ. Contribution of different HFE genotypes to iron overload disease: a pooled analysis. Genet Med 2000;2:271-277.
-
(2000)
Genet Med
, vol.2
, pp. 271-277
-
-
Burke, W.1
Imperatore, G.2
McDonnell, S.M.3
Baron, R.C.4
Khoury, M.J.5
-
24
-
-
0034999045
-
Variable phenotypic presentation of iron overload in H63D homozygotes: Are genetic modifiers the cause?
-
Aguilar-Martinez P, Bismuth M, Picot MC, et al. Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause? Gut 2001;48:836-842.
-
(2001)
Gut
, vol.48
, pp. 836-842
-
-
Aguilar-Martinez, P.1
Bismuth, M.2
Picot, M.C.3
-
25
-
-
0034609577
-
The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic
-
Beutler E, Felitti V, Gelbart T, Ho N. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Ann Intern Med 2000;133:329-337.
-
(2000)
Ann Intern Med
, vol.133
, pp. 329-337
-
-
Beutler, E.1
Felitti, V.2
Gelbart, T.3
Ho, N.4
-
26
-
-
0031433062
-
Phenotype-genotype correlation in haemochromatosis subjects
-
Mura C, Nousbaum JB, Verger P, et al. Phenotype-genotype correlation in haemochromatosis subjects. Hum Genet 1997;101:271-276.
-
(1997)
Hum Genet
, vol.101
, pp. 271-276
-
-
Mura, C.1
Nousbaum, J.B.2
Verger, P.3
-
27
-
-
16944363480
-
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
-
Carella M, D'Ambrosio L, Totaro A, et al. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 1997;60:828-832.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 828-832
-
-
Carella, M.1
D'Ambrosio, L.2
Totaro, A.3
-
28
-
-
67449092552
-
Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: A possible synergic effect?
-
Bukvic N, Sportelli F, Sessa F, et al. Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: a possible synergic effect? Hemoglobin 2009;33:155-157.
-
(2009)
Hemoglobin
, vol.33
, pp. 155-157
-
-
Bukvic, N.1
Sportelli, F.2
Sessa, F.3
-
29
-
-
19944430346
-
The role of HFE mutations on iron metabolism in beta-thalassemia carriers
-
Martins R, Picanco I, Fonseca A, Ferreira L, et al. The role of HFE mutations on iron metabolism in beta-thalassemia carriers. J Hum Genet 2004;49:651-655.
-
(2004)
J Hum Genet
, vol.49
, pp. 651-655
-
-
Martins, R.1
Picanco, I.2
Fonseca, A.3
Ferreira, L.4
-
30
-
-
34548672602
-
H63D mutation of the hemochromatosis gene and serum ferritin levels in Thai thalassemia carriers
-
Yamsri S, Sanchaisuriya K, Fucharoen S, et al. H63D mutation of the hemochromatosis gene and serum ferritin levels in Thai thalassemia carriers. Acta Haematol 2007;118:99-105.
-
(2007)
Acta Haematol
, vol.118
, pp. 99-105
-
-
Yamsri, S.1
Sanchaisuriya, K.2
Fucharoen, S.3
-
31
-
-
0035293235
-
Heterozygosity for the H63D mutation in the hereditary hemochromatosis (HFE) gene may lead into severe iron overload in beta-thalassemia minor: Observations in a thalassemic kindred
-
Ruiz-Arguelles GJ, Garces-Eisele J, Reyes-Nuñez V, et al. Heterozygosity for the H63D mutation in the hereditary hemochromatosis (HFE) gene may lead into severe iron overload in beta-thalassemia minor: observations in a thalassemic kindred. Rev Invest Clin 2001;53:117-120.
-
(2001)
Rev Invest Clin
, vol.53
, pp. 117-120
-
-
Ruiz-Arguelles, G.J.1
Garces-Eisele, J.2
Reyes-Nuñez, V.3
-
32
-
-
0036197547
-
H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers
-
Melis MA, Cau M, Deidda F, Barella S, Cao A, Galanello R. H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers. Haematologica 2002;87:242-245.
-
(2002)
Haematologica
, vol.87
, pp. 242-245
-
-
Melis, M.A.1
Cau, M.2
Deidda, F.3
Barella, S.4
Cao, A.5
Galanello, R.6
-
33
-
-
0028175486
-
Diversity of /3-globin mutations in Israeli ethnic groups reflects recent historic events
-
Filon D, Oron V, Krichevski S, et al. Diversity of /3-globin mutations in Israeli ethnic groups reflects recent historic events. Am J Hum Genet 1994; 54:836-843.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 836-843
-
-
Filon, D.1
Oron, V.2
Krichevski, S.3
-
34
-
-
0343502102
-
Diversity of molecular lesions causing beta B-thalassemia in Israel Jewish ethnic groups
-
Adam A, Bonne Tamir B, editors Cambridge, MA: Oxford Press
-
Rund D, Filon D, Doewling CE, Rachmilewitz E, Kazazian HH Jr, Oppen-heim A. Diversity of molecular lesions causing beta B-thalassemia in Israel Jewish ethnic groups. In: Adam A, Bonne Tamir B, editors. New perspectives in genetic markers and diseases among the Jewish people. Cambridge, MA: Oxford Press, 1992:228-236.
-
(1992)
New Perspectives in Genetic Markers and Diseases among the Jewish People
, pp. 228-236
-
-
Rund, D.1
Filon, D.2
Doewling, C.E.3
Rachmilewitz, E.4
Kazazian Jr., H.H.5
Oppen-Heim, A.6
-
35
-
-
7044222320
-
Iron, hemochromatosis, and hepatocellular carcinoma
-
Kowdley KV. Iron, hemochromatosis, and hepatocellular carcinoma. Gastroenterology 2004;127:S79-S86.
-
(2004)
Gastroenterology
, vol.127
-
-
Kowdley, K.V.1
-
36
-
-
3042757402
-
HFE C282Y and H63D in adults with malignancies in a community medical oncology practice
-
Barton JC, Bertoli LF, Acton RT. HFE C282Y and H63D in adults with malignancies in a community medical oncology practice. BMC Cancer 2004;4:6.
-
(2004)
BMC Cancer
, vol.4
, pp. 6
-
-
Barton, J.C.1
Bertoli, L.F.2
Acton, R.T.3
|