-
1
-
-
0031030733
-
The relationship between iron overload, clinical symptoms and age in 410 patients with genetic hemochromatosis
-
Adams PC, Deugnier Y, Moirand R, et al: The relationship between iron overload, clinical symptoms and age in 410 patients with genetic hemochromatosis. Hepatology 25:162-166, 1997
-
(1997)
Hepatology
, vol.25
, pp. 162-166
-
-
Adams, P.C.1
Deugnier, Y.2
Moirand, R.3
-
2
-
-
0033599057
-
Disorders of iron metabolism
-
Andrews NC: Disorders of iron metabolism. N Engl J Med 341:1986-1995, 1999
-
(1999)
N Engl J Med
, vol.341
, pp. 1986-1995
-
-
Andrews, N.C.1
-
3
-
-
0020465049
-
Magnetic susceptibility measurement of human iron stores
-
Brittenham GM, Farrell DE, Harris JW, et al: Magnetic susceptibility measurement of human iron stores. N Engl J Med 307:1671-1675, 1982
-
(1982)
N Engl J Med
, vol.307
, pp. 1671-1675
-
-
Brittenham, G.M.1
Farrell, D.E.2
Harris, J.W.3
-
4
-
-
0023731825
-
Non invasive methods for early detection of hereditary hemochromatosis
-
Brittenham GM: Non invasive methods for early detection of hereditary hemochromatosis. Ann NY Acad Sci 526:199-208, 1988
-
(1988)
Ann NY Acad Sci
, vol.526
, pp. 199-208
-
-
Brittenham, G.M.1
-
5
-
-
13144259692
-
Juvenile and adult hemochromatosis are distinct genetic disorders
-
Camaschella C, Roetto A, Cicilano M, et al: Juvenile and adult hemochromatosis are distinct genetic disorders. Eur J Hum Genet 5:371-375, 1997
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 371-375
-
-
Camaschella, C.1
Roetto, A.2
Cicilano, M.3
-
7
-
-
0032899949
-
Inherited HFE-unrelated hemochromatosis in Italian families
-
Camaschella C, Fargion S, Sampietro M, et al: Inherited HFE-unrelated hemochromatosis in Italian families. Hepatology 29:1563-1564, 1999
-
(1999)
Hepatology
, vol.29
, pp. 1563-1564
-
-
Camaschella, C.1
Fargion, S.2
Sampietro, M.3
-
9
-
-
0034022636
-
The gene encoding transferrin receptor 2 is mutated in a new type of hemochromatosis mapping to 7q22
-
Camaschella C, Roetto A, Cali A, et al: The gene encoding transferrin receptor 2 is mutated in a new type of hemochromatosis mapping to 7q22. Nat Genet 25:14-15, 2000
-
(2000)
Nat Genet
, vol.25
, pp. 14-15
-
-
Camaschella, C.1
Roetto, A.2
Cali, A.3
-
10
-
-
16944363480
-
Mutation analysis of HLA-H gene in Italian hemochromatosis patients
-
Carella M, D'Ambrosio L, Totano A, et al: Mutation analysis of HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 60:828-832, 1997
-
(1997)
Am J Hum Genet
, vol.60
, pp. 828-832
-
-
Carella, M.1
D'Ambrosio, L.2
Totano, A.3
-
11
-
-
0021014865
-
Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotropic hypogonadism
-
Cazzola M, Ascari E, Barosi G, et al: Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotropic hypogonadism. Hum Genet 65:149-154, 1983
-
(1983)
Hum Genet
, vol.65
, pp. 149-154
-
-
Cazzola, M.1
Ascari, E.2
Barosi, G.3
-
12
-
-
0032531982
-
Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder
-
Cazzola M, Cerani P, Rovati A, et al: Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder. Blood 92:2979-2981, 1998
-
(1998)
Blood
, vol.92
, pp. 2979-2981
-
-
Cazzola, M.1
Cerani, P.2
Rovati, A.3
-
13
-
-
0014051104
-
Idiopathic hemochromatosis in young subjects, clinical pathological and chemical findings in four patients
-
Charlton RW, Abrahams C, Bothwell TH, et al: Idiopathic hemochromatosis in young subjects, clinical pathological and chemical findings in four patients. Arch Pathol 83:132-140, 1967
-
(1967)
Arch Pathol
, vol.83
, pp. 132-140
-
-
Charlton, R.W.1
Abrahams, C.2
Bothwell, T.H.3
-
14
-
-
0029265722
-
Geographical distribution of 18 autosomal recessive disorders in French Canadian population of Saguenay Lac-Saint-Jean (Quebec)
-
De Braekeleer M: Geographical distribution of 18 autosomal recessive disorders in French Canadian population of Saguenay Lac-Saint-Jean (Quebec). Am Hum Biol 22:111-122, 1995
-
(1995)
Am Hum Biol
, vol.22
, pp. 111-122
-
-
De Braekeleer, M.1
-
15
-
-
0031438752
-
Clinical features of cystic fibrosis patients with rare genotypes in Saguenay Lac-Saint-Jean (Quebec, Canada)
-
De Braekeleer M, Mari G, Verlingue C, et al: Clinical features of cystic fibrosis patients with rare genotypes in Saguenay Lac-Saint-Jean (Quebec, Canada). Ann Genet 40:205-208, 1997
-
(1997)
Ann Genet
, vol.40
, pp. 205-208
-
-
De Braekeleer, M.1
Mari, G.2
Verlingue, C.3
-
16
-
-
0033833865
-
Juvenile hemochromatosis associated with β-thalassaemia treated by phlebotomy and recombinant human erythropoietin
-
De Gobbi M, Pasquero P, Brunello F, et al: Juvenile hemochromatosis associated with β-thalassaemia treated by phlebotomy and recombinant human erythropoietin. Haematologica 85:865-867, 2000
-
(2000)
Haematologica
, vol.85
, pp. 865-867
-
-
De Gobbi, M.1
Pasquero, P.2
Brunello, F.3
-
18
-
-
0029092104
-
Successful pregnancy following gonadotropin therapy in a young female with juvenile idiopathic hemochromatosis and secondary hypogonadotropic hypogonadism
-
Farina G, Pedrotti C, Cerani P, et al: Successful pregnancy following gonadotropin therapy in a young female with juvenile idiopathic hemochromatosis and secondary hypogonadotropic hypogonadism. Haematologica 80:335-337, 1995
-
(1995)
Haematologica
, vol.80
, pp. 335-337
-
-
Farina, G.1
Pedrotti, C.2
Cerani, P.3
-
19
-
-
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 13:399-408, 1996
-
(1996)
Nat Genet
, vol.13
, pp. 399-408
-
-
Feder, J.N.1
Gnirke, A.2
Thomas, W.3
-
20
-
-
0014108295
-
Hemochromatosis in two young sisters. Case studies and a family survey
-
Felts JH, Nelson JR, Herndon DN, et al: Hemochromatosis in two young sisters. Case studies and a family survey. Ann Intern Med 67:117-123, 1967
-
(1967)
Ann Intern Med
, vol.67
, pp. 117-123
-
-
Felts, J.H.1
Nelson, J.R.2
Herndon, D.N.3
-
21
-
-
0028049495
-
Regulation of iron balance in humans
-
Finch C: Regulation of iron balance in humans. Blood 84: 697-702, 1994
-
(1994)
Blood
, vol.84
, pp. 697-702
-
-
Finch, C.1
-
22
-
-
0036242163
-
Clinical and histopathological findings in a family with hemochromatosis type 3, carrying a new mutation in transferrin receptor 2 gene
-
Girelli D, Bozzini C, Roetto A, et al: Clinical and histopathological findings in a family with hemochromatosis type 3, carrying a new mutation in transferrin receptor 2 gene. Gastroenterology 122:1295-1302, 2002.
-
(2002)
Gastroenterology
, vol.122
, pp. 1295-1302
-
-
Girelli, D.1
Bozzini, C.2
Roetto, A.3
-
23
-
-
0023847665
-
Hereditary hemochromatosis in children, adolescents and young adults
-
Haddy TB, Castro OL, Rana SR: Hereditary hemochromatosis in children, adolescents and young adults. Am J Pediatr Hematol Oncol 10:23-34, 1988
-
(1988)
Am J Pediatr Hematol Oncol
, vol.10
, pp. 23-34
-
-
Haddy, T.B.1
Castro, O.L.2
Rana, S.R.3
-
24
-
-
0027142505
-
Heart transplantation in a case of juvenile hereditary haemochromatosis followed up by MRI and endomyocardial biopsies
-
Jensen PD, Bagger JP, Jensen FT, et al: Heart transplantation in a case of juvenile hereditary haemochromatosis followed up by MRI and endomyocardial biopsies. Eur J Haematol 51:199-205, 1993
-
(1993)
Eur J Haematol
, vol.51
, pp. 199-205
-
-
Jensen, P.D.1
Bagger, J.P.2
Jensen, F.T.3
-
25
-
-
0026766811
-
Primary hemochromatosis in children; report of three newly diagnosed cases and review of the pediatric literature
-
Kaikov Y, Wadsworth LD, Hassall E, et al: Primary hemochromatosis in children; report of three newly diagnosed cases and review of the pediatric literature. Pediatrics 90:37-42, 1992
-
(1992)
Pediatrics
, vol.90
, pp. 37-42
-
-
Kaikov, Y.1
Wadsworth, L.D.2
Hassall, E.3
-
26
-
-
0031710042
-
Severe juvenile haemochromatosis (JH) missing HFE gene variants: Implications for a second gene locus leading to iron overload
-
Kaltwasser JP, Gottschalk R, Seidl CH: Severe juvenile haemochromatosis (JH) missing HFE gene variants: Implications for a second gene locus leading to iron overload. Br J Haematol 102:1111-1112, 1998
-
(1998)
Br J Haematol
, vol.102
, pp. 1111-1112
-
-
Kaltwasser, J.P.1
Gottschalk, R.2
Seidl, C.H.3
-
27
-
-
0031755098
-
Hereditary juvenile haemochromatosis: A genetically heterogeneous life-threatening iron storage disease
-
Kelly AL, Rhodes DA, Roland JM, et al: Hereditary juvenile haemochromatosis: A genetically heterogeneous life-threatening iron storage disease. Q J Med 91:607-618, 1998
-
(1998)
Q J Med
, vol.91
, pp. 607-618
-
-
Kelly, A.L.1
Rhodes, D.A.2
Roland, J.M.3
-
28
-
-
0034845503
-
Classification and genetic features of neonatal haemochromatosis: A study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism
-
Kelly AL, Lunt PW, Rodrigues F, et al: Classification and genetic features of neonatal haemochromatosis: A study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism. J Med Genet 38:599-610, 2001
-
(2001)
J Med Genet
, vol.38
, pp. 599-610
-
-
Kelly, A.L.1
Lunt, P.W.2
Rodrigues, F.3
-
29
-
-
0018427678
-
Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people
-
Lamon JM, Marynick SP, Rosenblat R, et al: Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people. Gastroenterology 76:178-183, 1978
-
(1978)
Gastroenterology
, vol.76
, pp. 178-183
-
-
Lamon, J.M.1
Marynick, S.P.2
Rosenblat, R.3
-
30
-
-
0034062537
-
Genes that modify the hemochromatosis phenotype in mice
-
Levy JE, Montross LK, Andrews NC: Genes that modify the hemochromatosis phenotype in mice. J Clin Invest 105:1209-1216, 2000
-
(2000)
J Clin Invest
, vol.105
, pp. 1209-1216
-
-
Levy, J.E.1
Montross, L.K.2
Andrews, N.C.3
-
31
-
-
0032927124
-
Phenotypic expression of HFE mutations: A French study of 1110 unrelated iron-overloaded patients and relatives
-
Moirand R, Jouanolle AM, Brissot P, et al: Phenotypic expression of HFE mutations: A French study of 1110 unrelated iron-overloaded patients and relatives. Gastroenterology 116: 372-377, 1999
-
(1999)
Gastroenterology
, vol.116
, pp. 372-377
-
-
Moirand, R.1
Jouanolle, A.M.2
Brissot, P.3
-
32
-
-
0034795445
-
Neonatal haemochromatosis
-
Murray KF, Kowdley KV: Neonatal haemochromatosis. Pediatrics 108:960-964, 2001
-
(2001)
Pediatrics
, vol.108
, pp. 960-964
-
-
Murray, K.F.1
Kowdley, K.V.2
-
33
-
-
0028862502
-
Liver iron stores in patients with secondary haemosiderosis under iron chelation therapy with deferoxamine or deferiprone
-
Nielsen P, Fischer R, Engelhardt R, et al: Liver iron stores in patients with secondary haemosiderosis under iron chelation therapy with deferoxamine or deferiprone. Br J Haematol 91:827-833, 1995
-
(1995)
Br J Haematol
, vol.91
, pp. 827-833
-
-
Nielsen, P.1
Fischer, R.2
Engelhardt, R.3
-
34
-
-
0031001278
-
Iron chelating therapy and the treatment of thalassemia
-
Olivieri NF, Brittenham GM: Iron chelating therapy and the treatment of thalassemia. Blood 89:739-761, 1997
-
(1997)
Blood
, vol.89
, pp. 739-761
-
-
Olivieri, N.F.1
Brittenham, G.M.2
-
35
-
-
0033859043
-
Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogeneity
-
Papanikolaou G, Politou M, Terpos E, et al: Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogeneity. Blood Cells Mol Dis 26:163-168, 2000
-
(2000)
Blood Cells Mol Dis
, vol.26
, pp. 163-168
-
-
Papanikolaou, G.1
Politou, M.2
Terpos, E.3
-
36
-
-
0034749597
-
Linkage to chromosome 1q in Greek families with juvenile hemochromatosis
-
Papanikolaou G, Politou M, Roetto A, et al: Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. Blood Cells Mol Dis 27:744-749, 2001
-
(2001)
Blood Cells Mol Dis
, vol.27
, pp. 744-749
-
-
Papanikolaou, G.1
Politou, M.2
Roetto, A.3
-
37
-
-
0000183683
-
Idiopathic hemochromatosis in children
-
Perkins K: Idiopathic hemochromatosis in children. Am J Med 39:118-126, 1965
-
(1965)
Am J Med
, vol.39
, pp. 118-126
-
-
Perkins, K.1
-
38
-
-
15844397210
-
The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients
-
Piperno A, Arosio C, Fargion S, et al: The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients. Hepatology 24:43-46, 1996
-
(1996)
Hepatology
, vol.24
, pp. 43-46
-
-
Piperno, A.1
Arosio, C.2
Fargion, S.3
-
40
-
-
0034493507
-
Haemochromatosis in patients with β-thalassaemia trait
-
Piperno A, Mariani R, Arosio C, et al: Haemochromatosis in patients with β-thalassaemia trait. Br J Haematol 111:908-914, 2000
-
(2000)
Br J Haematol
, vol.111
, pp. 908-914
-
-
Piperno, A.1
Mariani, R.2
Arosio, C.3
-
41
-
-
0034026945
-
Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada)
-
Rivard SR, Mura C, Simard H, et al: Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada). Br J Haematol 108:854-858, 2000
-
(2000)
Br J Haematol
, vol.108
, pp. 854-858
-
-
Rivard, S.R.1
Mura, C.2
Simard, H.3
-
42
-
-
0034144525
-
Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada)
-
Rivard SR, Mura C, Simard H, et al: Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada). Blood Cells Mol Dis 26:10-14, 2000
-
(2000)
Blood Cells Mol Dis
, vol.26
, pp. 10-14
-
-
Rivard, S.R.1
Mura, C.2
Simard, H.3
-
43
-
-
0000683733
-
Confirmation of linkage of juvenile hemochromatosis on chromosome 1q in families from Saguenay-Lac-Saint-Jean (Quebec, Canada)
-
abstr
-
Rivard SR, Mura C, Simard R: Confirmation of linkage of juvenile hemochromatosis on chromosome 1q in families from Saguenay-Lac-Saint-Jean (Quebec, Canada). Eur J Hum Genet 9:1258, 2001 (suppl, abstr)
-
(2001)
Eur J Hum Genet
, vol.9
, Issue.SUPPL.
, pp. 1258
-
-
Rivard, S.R.1
Mura, C.2
Simard, R.3
-
44
-
-
0033358675
-
The juvenile hemochromatosis locus maps to chromosome 1q
-
Roetto A, Totano A, Cazzola M, et al: The juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet 64:1388-1393, 1999
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1388-1393
-
-
Roetto, A.1
Totano, A.2
Cazzola, M.3
-
45
-
-
0033812756
-
Exclusion of Zirtl as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1q21
-
Roetto A, Alberti F, Daraio F, et al: Exclusion of Zirtl as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1q21. Blood Cells Mol Dis 26:205-210, 2000
-
(2000)
Blood Cells Mol Dis
, vol.26
, pp. 205-210
-
-
Roetto, A.1
Alberti, F.2
Daraio, F.3
-
46
-
-
0035353167
-
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
-
Roetto A, Totano A, Piperno A, et al: New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood 97:2555-2560, 2001
-
(2001)
Blood
, vol.97
, pp. 2555-2560
-
-
Roetto, A.1
Totano, A.2
Piperno, A.3
-
47
-
-
0035474950
-
Recent advances in disorders of iron metabolism: Mutations, mechanisms an modifiers
-
Roy CN, Andrews NC: Recent advances in disorders of iron metabolism: Mutations, mechanisms an modifiers. Hum Mol Genet 10: 2181-2186, 2001
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2181-2186
-
-
Roy, C.N.1
Andrews, N.C.2
-
48
-
-
0034672236
-
Iron homeostasis: New tales from the crypt
-
Roy CN, Enns CE: Iron homeostasis: New tales from the crypt. Blood 96:4020-4027, 2000
-
(2000)
Blood
, vol.96
, pp. 4020-4027
-
-
Roy, C.N.1
Enns, C.E.2
-
49
-
-
0034035051
-
A case of non-HFE haemochromatosis presenting with adrenocortical insufficiency
-
Varkonyi J, Kaltwasser JP, Seidl C, et al: A case of non-HFE haemochromatosis presenting with adrenocortical insufficiency. Br J Haematol 109:252-253, 2000
-
(2000)
Br J Haematol
, vol.109
, pp. 252-253
-
-
Varkonyi, J.1
Kaltwasser, J.P.2
Seidl, C.3
|