-
1
-
-
0035054259
-
Genotype screening for hereditary hemochromatosis among voluntary blood donors in Hungary
-
Andrikovics H et al (2001) Genotype screening for hereditary hemochromatosis among voluntary blood donors in Hungary. Blood Cells Mol Dis 27(1): 334-341.
-
(2001)
Blood Cells Mol Dis
, vol.27
, Issue.1
, pp. 334-341
-
-
Andrikovics, H.1
-
2
-
-
0036016994
-
Hereditary hemochromatosis: the clinical significance of the S65C mutation
-
Asberg A et al (2002) Hereditary hemochromatosis: the clinical significance of the S65C mutation. Genet Test 6(1): 59-62.
-
(2002)
Genet Test
, vol.6
, Issue.1
, pp. 59-62
-
-
Asberg, A.1
-
3
-
-
0031857140
-
Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain
-
Baiget M, Barcelo MJ, Gimferrer E (1998) Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain. J Med Genet 35(8): 701.
-
(1998)
J Med Genet
, vol.35
, Issue.8
, pp. 701
-
-
Baiget, M.1
Barcelo, M.J.2
Gimferrer, E.3
-
4
-
-
1942440876
-
Vlax Roma history: what do coalescent-based methods tell us?
-
Chaix R et al (2004) Vlax Roma history: what do coalescent-based methods tell us? Eur J Hum Genet 12(4): 285-292.
-
(2004)
Eur J Hum Genet
, vol.12
, Issue.4
, pp. 285-292
-
-
Chaix, R.1
-
5
-
-
30344479814
-
S65C and other mutations in the haemochromatosis gene in the Czech population
-
Cimburova M et al (2005) S65C and other mutations in the haemochromatosis gene in the Czech population. Folia Biol (Praha) 51(6): 172-176.
-
(2005)
Folia Biol (Praha)
, vol.51
, Issue.6
, pp. 172-176
-
-
Cimburova, M.1
-
6
-
-
39649119500
-
Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay
-
Cukjati M et al (2007) Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay. BMC Med Genet 8: 69.
-
(2007)
BMC Med Genet
, vol.8
, pp. 69
-
-
Cukjati, M.1
-
7
-
-
18144444007
-
Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis
-
Datz C et al (1997) Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis. J Hepatol 27(5): 773-779.
-
(1997)
J Hepatol
, vol.27
, Issue.5
, pp. 773-779
-
-
Datz, C.1
-
8
-
-
34447116520
-
Frequency of primary iron overload and HFE gene mutations (C282Y, H63D and S65C) in chronic liver disease patients in north India
-
Dhillon BK et al (2007) Frequency of primary iron overload and HFE gene mutations (C282Y, H63D and S65C) in chronic liver disease patients in north India. World J Gastroenterol 13(21): 2956-2959.
-
(2007)
World J Gastroenterol
, vol.13
, Issue.21
, pp. 2956-2959
-
-
Dhillon, B.K.1
-
9
-
-
4544255777
-
The origin and spread of the HFE-C282Y haemochromatosis mutation
-
Distante S et al (2004) The origin and spread of the HFE-C282Y haemochromatosis mutation. Hum Genet 115(4): 269-279.
-
(2004)
Hum Genet
, vol.115
, Issue.4
, pp. 269-279
-
-
Distante, S.1
-
10
-
-
17644434333
-
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression
-
Feder JN et al (1997) The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. J Biol Chem 272(22): 14025-14028.
-
(1997)
J Biol Chem
, vol.272
, Issue.22
, pp. 14025-14028
-
-
Feder, J.N.1
-
11
-
-
13144282684
-
The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
-
Feder JN et al (1998) The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci U S A 95(4): 1472-1477.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, Issue.4
, pp. 1472-1477
-
-
Feder, J.N.1
-
12
-
-
0023286166
-
The Slovak gypsies (Romany)-a population with the highest coefficient of inbreeding in Europe
-
Ferak V, Sivakova D, Sieglova Z (1987) The Slovak gypsies (Romany)-a population with the highest coefficient of inbreeding in Europe. Bratisl Lek Listy 87(2): 168-175.
-
(1987)
Bratisl Lek Listy
, vol.87
, Issue.2
, pp. 168-175
-
-
Ferak, V.1
Sivakova, D.2
Sieglova, Z.3
-
13
-
-
79956362469
-
Hemochromatosis gene mutations in the general population of Slovakia
-
Gabriková D et al (2011) Hemochromatosis gene mutations in the general population of Slovakia. Cent Eur J Med 6(2): 148-151.
-
(2012)
Central European Journal of Medicine
, vol.6
, Issue.2
, pp. 148-151
-
-
Gabriková, D.1
-
14
-
-
16244421375
-
Prevalence of the H63D mutation of the HFE in north India: its presence does not cause iron overload in beta thalassemia trait
-
Garewal G et al (2005) Prevalence of the H63D mutation of the HFE in north India: its presence does not cause iron overload in beta thalassemia trait. Eur J Haematol 74(4): 333-336.
-
(2005)
Eur J Haematol
, vol.74
, Issue.4
, pp. 333-336
-
-
Garewal, G.1
-
15
-
-
2942554825
-
HFE and transferrin directly compete for transferrin receptor in solution and at the cell surface
-
Giannetti AM, Bjorkman PJ (2004) HFE and transferrin directly compete for transferrin receptor in solution and at the cell surface. J Biol Chem 279(24): 25866-25875.
-
(2004)
J Biol Chem
, vol.279
, Issue.24
, pp. 25866-25875
-
-
Giannetti, A.M.1
Bjorkman, P.J.2
-
16
-
-
0035209167
-
Origins and divergence of the Roma (gypsies)
-
Gresham D et al (2001) Origins and divergence of the Roma (gypsies). Am J Hum Genet 69(6): 1314-1331.
-
(2001)
Am J Hum Genet
, vol.69
, Issue.6
, pp. 1314-1331
-
-
Gresham, D.1
-
17
-
-
0035425811
-
HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology
-
Hanson EH, Imperatore G, Burke W (2001) HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology. Am J Epidemiol 154(3): 193-206.
-
(2001)
Am J Epidemiol
, vol.154
, Issue.3
, pp. 193-206
-
-
Hanson, E.H.1
Imperatore, G.2
Burke, W.3
-
18
-
-
0032721834
-
C282Y and H63D mutations in the HFE gene are not associated with porphyria cutanea tarda in Bulgaria
-
Ivanova A et al (1999) C282Y and H63D mutations in the HFE gene are not associated with porphyria cutanea tarda in Bulgaria. Hepatology 30(6): 1531-1532.
-
(1999)
Hepatology
, vol.30
, Issue.6
, pp. 1531-1532
-
-
Ivanova, A.1
-
19
-
-
0026345224
-
Prevalence of iron deficiency and iron overload in the adult Icelandic population
-
Jonsson JJ et al (1991) Prevalence of iron deficiency and iron overload in the adult Icelandic population. J Clin Epidemiol 44(12): 1289-1297.
-
(1991)
J Clin Epidemiol
, vol.44
, Issue.12
, pp. 1289-1297
-
-
Jonsson, J.J.1
-
20
-
-
0033910767
-
N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom
-
Kalaydjieva L et al (2000) N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet 67(1): 47-58.
-
(2000)
Am J Hum Genet
, vol.67
, Issue.1
, pp. 47-58
-
-
Kalaydjieva, L.1
-
21
-
-
0035133792
-
Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages
-
Kalaydjieva L et al (2001) Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages. Eur J Hum Genet 9(2): 97-104.
-
(2001)
Eur J Hum Genet
, vol.9
, Issue.2
, pp. 97-104
-
-
Kalaydjieva, L.1
-
22
-
-
27744475269
-
A newly discovered founder population: the Roma/Gypsies
-
Kalaydjieva L et al (2005) A newly discovered founder population: the Roma/Gypsies. Bioessays 27(10): 1084-1094.
-
(2005)
Bioessays
, vol.27
, Issue.10
, pp. 1084-1094
-
-
Kalaydjieva, L.1
-
23
-
-
0032478524
-
Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
-
Lebron JA et al (1998) Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 93(1): 111-123.
-
(1998)
Cell
, vol.93
, Issue.1
, pp. 111-123
-
-
Lebron, J.A.1
-
24
-
-
0030923653
-
Global prevalence of putative haemochromatosis mutations
-
Merryweather-Clarke AT et al (1997) Global prevalence of putative haemochromatosis mutations. J Med Genet 34(4): 275-278.
-
(1997)
J Med Genet
, vol.34
, Issue.4
, pp. 275-278
-
-
Merryweather-Clarke, A.T.1
-
25
-
-
0033862319
-
Geography of HFE C282Y and H63D mutations
-
Merryweather-Clarke AT et al (2000) Geography of HFE C282Y and H63D mutations. Genet Test 4(2): 183-198.
-
(2000)
Genet Test
, vol.4
, Issue.2
, pp. 183-198
-
-
Merryweather-Clarke, A.T.1
-
26
-
-
0042131687
-
Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings
-
Milman N, Pedersen P (2003) Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings. Clin Genet 64(1): 36-47.
-
(2003)
Clin Genet
, vol.64
, Issue.1
, pp. 36-47
-
-
Milman, N.1
Pedersen, P.2
-
27
-
-
0034999535
-
Frequency of the hemochromatosis C282Y and H63D mutations in a Polish population of Slavic origin
-
Moczulski DK, Grzeszczak W, Gawlik B (2001) Frequency of the hemochromatosis C282Y and H63D mutations in a Polish population of Slavic origin. Med Sci Monit 7(3): 441-443.
-
(2001)
Med Sci Monit
, vol.7
, Issue.3
, pp. 441-443
-
-
Moczulski, D.K.1
Grzeszczak, W.2
Gawlik, B.3
-
28
-
-
4544388514
-
Mutation history of the roma/gypsies
-
Morar B et al (2004) Mutation history of the roma/gypsies. Am J Hum Genet 75(4): 596-609.
-
(2004)
Am J Hum Genet
, vol.75
, Issue.4
, pp. 596-609
-
-
Morar, B.1
-
29
-
-
0033561342
-
HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis
-
Mura C, Raguenes O, Ferec C (1999) HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 93(8): 2502-2505.
-
(1999)
Blood
, vol.93
, Issue.8
, pp. 2502-2505
-
-
Mura, C.1
Raguenes, O.2
Ferec, C.3
-
30
-
-
34248159045
-
Searching for the origin of Romanies: Slovakian Romani, Jats of Haryana and Jat Sikhs Y-STR data in comparison with different Romani populations
-
Nagy M et al (2007) Searching for the origin of Romanies: Slovakian Romani, Jats of Haryana and Jat Sikhs Y-STR data in comparison with different Romani populations. Forensic Sci Int 169(1): 19-26.
-
(2007)
Forensic Sci Int
, vol.169
, Issue.1
, pp. 19-26
-
-
Nagy, M.1
-
31
-
-
0032032503
-
Screening for hemochromatosis and iron deficiency in employees and primary care patients in Western Germany
-
Niederau C et al (1998) Screening for hemochromatosis and iron deficiency in employees and primary care patients in Western Germany. Ann Intern Med 128(5): 337-345.
-
(1998)
Ann Intern Med
, vol.128
, Issue.5
, pp. 337-345
-
-
Niederau, C.1
-
32
-
-
33745870875
-
Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro
-
Saric M et al (2006) Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro. Clin Genet 70(2): 170-172.
-
(2006)
Clin Genet
, vol.70
, Issue.2
, pp. 170-172
-
-
Saric, M.1
-
33
-
-
0032706007
-
The frequency of the haemochromatosis C282Y mutation in the ethnic Hungarian and Romany populations of eastern Hungary
-
Szakony S, Balogh I, Muszbek L (1999) The frequency of the haemochromatosis C282Y mutation in the ethnic Hungarian and Romany populations of eastern Hungary. Br J Haematol 107(2): 464-465.
-
(1999)
Br J Haematol
, vol.107
, Issue.2
, pp. 464-465
-
-
Szakony, S.1
Balogh, I.2
Muszbek, L.3
-
34
-
-
1642480107
-
Absence of hemochromatosis associated Cys282Tyr HFE gene mutation and low frequency of hemochromatosis phenotype in nonalcoholic chronic liver disease patients in India
-
Thakur V et al (2004) Absence of hemochromatosis associated Cys282Tyr HFE gene mutation and low frequency of hemochromatosis phenotype in nonalcoholic chronic liver disease patients in India. J Gastroenterol Hepatol 19(1): 86-90.
-
(2004)
J Gastroenterol Hepatol
, vol.19
, Issue.1
, pp. 86-90
-
-
Thakur, V.1
-
35
-
-
0033762701
-
Y chromosome sequence variation and the history of human populations
-
Underhill PA et al (2000) Y chromosome sequence variation and the history of human populations. Nat Genet 26(3): 358-361.
-
(2000)
Nat Genet
, vol.26
, Issue.3
, pp. 358-361
-
-
Underhill, P.A.1
-
37
-
-
57949101660
-
Prevalence of HFE (hemochromatosis) gene mutations C282Y and H63D in a Romanian population
-
Voicu PM et al (2009) Prevalence of HFE (hemochromatosis) gene mutations C282Y and H63D in a Romanian population. Blood Cells Mol Dis 42(1): 14-15.
-
(2009)
Blood Cells Mol Dis
, vol.42
, Issue.1
, pp. 14-15
-
-
Voicu, P.M.1
-
38
-
-
0025740120
-
Screening for haemochromatosis: prevalence among Danish blood donors
-
Wiggers P et al (1991) Screening for haemochromatosis: prevalence among Danish blood donors. J Intern Med 230(3): 265-270.
-
(1991)
J Intern Med
, vol.230
, Issue.3
, pp. 265-270
-
-
Wiggers, P.1
-
39
-
-
33745754189
-
Molecular genetic diagnostics and screening of hereditary hemochromatosis
-
Zlocha J et al (2006) Molecular genetic diagnostics and screening of hereditary hemochromatosis. Vnitr Lek 52(6): 602-608.
-
(2006)
Vnitr Lek
, vol.52
, Issue.6
, pp. 602-608
-
-
Zlocha, J.1
|