-
1
-
-
0023901798
-
Prevalence of hemochromatosis among 11,065 presumably healthy blood donors
-
CQ Edwards LM Griffen D Goldgar C Drummond MH Skolnick JP Kushner Prevalence of hemochromatosis among 11,065 presumably healthy blood donors N Engl J Med 318 1988 1355 1362
-
(1988)
N Engl J Med
, vol.318
, pp. 1355-1362
-
-
Edwards, CQ1
Griffen, LM2
Goldgar, D3
Drummond, C4
Skolnick, MH5
Kushner, JP6
-
2
-
-
0000702937
-
Hemochromatosis
-
TH Bothwell RW Charlton AG Motulsky Hemochromatosis 7th ed CR Scriver AL Beaudet WS Sly D Valle The metabolic and molecular bases of inherited disease 1995 McGraw-Hill New York 2237 2269
-
(1995)
, pp. 2237-2269
-
-
Bothwell, TH1
Charlton, RW2
Motulsky, AG3
-
3
-
-
0031557924
-
Genetic haemochromatosis. Report of a meeting of physicians and scientists at the Royal Free Hospital School of Medicine
-
JS Dooley AP Walker B Macfarlane M Worwood Genetic haemochromatosis. Report of a meeting of physicians and scientists at the Royal Free Hospital School of Medicine Lancet 349 1997 1688 1693
-
(1997)
Lancet
, vol.349
, pp. 1688-1693
-
-
Dooley, JS1
Walker, AP2
Macfarlane, B3
Worwood, M4
-
4
-
-
9344224529
-
A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis
-
JN Feder A Gnirke W Thomas Z Tsuchihashi DA Ruddy A Basava F Dormishian R Domingo Jr. MC Ellis A Fullan LM Hinton NL Jones BE Kimmel GS Kronmal P Lauer VK Lee DB Loeb FA Mapa E McClelland NC Meyer GA Mintier N Moeller T Moore E Morikang RR Wolff A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis Nat Genet 13 1996 399 408
-
(1996)
Nat Genet
, vol.13
, pp. 399-408
-
-
Feder, JN1
Gnirke, A2
Thomas, W3
Tsuchihashi, Z4
Ruddy, DA5
Basava, A6
Dormishian, F7
Domingo, R8
Ellis, MC9
Fullan, A10
Hinton, LM11
Jones, NL12
Kimmel, BE13
Kronmal, GS14
Lauer, P15
Lee, VK16
Loeb, DB17
Mapa, FA18
McClelland, E19
Meyer, NC20
Mintier, GA21
Moeller, N22
Moore, T23
Morikang, E24
Wolff, RR25
more..
-
6
-
-
0002392433
-
HLA-H gene mutations and haemochromatosis: the likely association of H63D with mild phenotype and the detection of S65C, a novel variant of exon 2 (abstr)
-
S Henz J Reichen S Liechti-Gallati HLA-H gene mutations and haemochromatosis: the likely association of H63D with mild phenotype and the detection of S65C, a novel variant of exon 2 (abstr) J Hepatol 26 1997 57
-
(1997)
J Hepatol
, vol.26
, pp. 57
-
-
Henz, S1
Reichen, J2
Liechti-Gallati, S3
-
7
-
-
0002414681
-
A single nucleotide deletion in the putative haemochromatosis gene in a patient who is negative for both the C282Y and H63D mutations (abstr)
-
JJ Pointon JD Shearman AT Merr yweather-Clarke KJH Robson A single nucleotide deletion in the putative haemochromatosis gene in a patient who is negative for both the C282Y and H63D mutations (abstr) International Symposium: Iron in Biology and Medicine, St Malo 1997
-
(1997)
-
-
Pointon, JJ1
Shearman, JD2
Merr yweather-Clarke, AT3
Robson, KJH4
-
9
-
-
0005600868
-
A simple genetic test identifies 90% of UK patients with haemochromatosis
-
M Worwood JD Shearman DF Wallace JS Dooley AT Merr yweather-Clarke JJ Pointon WMC Rosenberg DJ Bowen AK Burnett HA Jackson S Lawless R Raha-Chowdhury J Partridge R Williams A Bomford AP Walker KJH Robson A simple genetic test identifies 90% of UK patients with haemochromatosis Gut 41 1997 841 844
-
(1997)
Gut
, vol.41
, pp. 841-844
-
-
Worwood, M1
Shearman, JD2
Wallace, DF3
Dooley, JS4
Merr yweather-Clarke, AT5
Pointon, JJ6
Rosenberg, WMC7
Bowen, DJ8
Burnett, AK9
Jackson, HA10
Lawless, S11
Raha-Chowdhury, R12
Partridge, J13
Williams, R14
Bomford, A15
Walker, AP16
Robson, KJH17
-
10
-
-
0028598360
-
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
-
F Muscatelli TM Strom AP Walker E Zanaria D Recan A Meindl B Bardoni S Guioli G Zehetner W Rabl HP Schwarz JC Kaplan G Camerino T Meitinger AP Monaco Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism Nature 372 1994 672 676
-
(1994)
Nature
, vol.372
, pp. 672-676
-
-
Muscatelli, F1
Strom, TM2
Walker, AP3
Zanaria, E4
Recan, D5
Meindl, A6
Bardoni, B7
Guioli, S8
Zehetner, G9
Rabl, W10
Schwarz, HP11
Kaplan, JC12
Camerino, G13
Meitinger, T14
Monaco, AP15
-
11
-
-
0029931072
-
Mutations and phenotype in isolated glycerol kinase deficiency
-
AP Walker F Muscatelli AN Stafford J Chelly N Dahl HK Blomquist J Delanghe PJ Willems B Steinmann AP Monaco Mutations and phenotype in isolated glycerol kinase deficiency Am J Hum Genet 58 1996 1205 1211
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1205-1211
-
-
Walker, AP1
Muscatelli, F2
Stafford, AN3
Chelly, J4
Dahl, N5
Blomquist, HK6
Delanghe, J7
Willems, PJ8
Steinmann, B9
Monaco, AP10
-
12
-
-
13144260713
-
A 6p22 reference map of leukocyte DNA: exclusion of rearrangement in four cases of atypical haemochromatosis
-
DF Wallace J Partridge A Robertson VMA Simpson M Wor wood AB Bomford A Volz A Ziegler JS Dooley AP Walker A 6p22 reference map of leukocyte DNA: exclusion of rearrangement in four cases of atypical haemochromatosis Eur J Hum Genet 6 1998 523 526
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 523-526
-
-
Wallace, DF1
Partridge, J2
Robertson, A3
Simpson, VMA4
Wor wood, M5
Bomford, AB6
Volz, A7
Ziegler, A8
Dooley, JS9
Walker, AP10
-
13
-
-
0020050314
-
A catalogue of splice junction sequences
-
SM Mount A catalogue of splice junction sequences Nucleic Acids Res 10 1982 459 472
-
(1982)
Nucleic Acids Res
, vol.10
, pp. 459-472
-
-
Mount, SM1
-
14
-
-
0026794668
-
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences
-
M Krawczak J Reiss DN Cooper The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences Hum Genet 90 1992 41 54
-
(1992)
Hum Genet
, vol.90
, pp. 41-54
-
-
Krawczak, M1
Reiss, J2
Cooper, DN3
-
15
-
-
17644434333
-
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression
-
JN Feder Z Tsuchihashi A Irrinki VK Lee FA Mapa E Morikang CE Prass SM Starnes RK Wolff S Parkkila WS Sly RC Schatzman The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression J Biol Chem 272 1997 14025 14028
-
(1997)
J Biol Chem
, vol.272
, pp. 14025-14028
-
-
Feder, JN1
Tsuchihashi, Z2
Irrinki, A3
Lee, VK4
Mapa, FA5
Morikang, E6
Prass, CE7
Starnes, SM8
Wolff, RK9
Parkkila, S10
Sly, WS11
Schatzman, RC12
-
16
-
-
13144282684
-
The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
-
JN Feder DM Penny A Irrinki VK Lee JA Lebron N Watson Z Tsuchihashi E Sigal PJ Bjorkman RC Schatzman The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding Proc Natl Acad Sci USA 95 1998 1472 1477
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 1472-1477
-
-
Feder, JN1
Penny, DM2
Irrinki, A3
Lee, VK4
Lebron, JA5
Watson, N6
Tsuchihashi, Z7
Sigal, E8
Bjorkman, PJ9
Schatzman, RC10
-
17
-
-
0032478524
-
Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
-
JA Lebron MJ Bennett DE Vaughn AJ Chirino PM Snow GA Mintier JN Feder PJ Bjorkman Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor Cell 93 1998 111 123
-
(1998)
Cell
, vol.93
, pp. 111-123
-
-
Lebron, JA1
Bennett, MJ2
Vaughn, DE3
Chirino, AJ4
Snow, PM5
Mintier, GA6
Feder, JN7
Bjorkman, PJ8
|