-
1
-
-
0033862319
-
Geography of HFE C282Y and H63D mutations
-
Merryweather-Clarke A.T., Pointon J.J., Jouanolle A.M., Rochette J., Robson K.J. 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
-
2
-
-
0344514886
-
Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload
-
Biasiotto G., Belloli S., Ruggeri G., Zanella I., Gerardi G., Corrado M., Gobbi E., Albertini A., Arosio P. Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. Clin. Chem. 2003, 49:1981-1988.
-
(2003)
Clin. Chem.
, vol.49
, pp. 1981-1988
-
-
Biasiotto, G.1
Belloli, S.2
Ruggeri, G.3
Zanella, I.4
Gerardi, G.5
Corrado, M.6
Gobbi, E.7
Albertini, A.8
Arosio, P.9
-
3
-
-
40849147354
-
New TFR2 mutations in young Italian patients with hemochromatosis
-
Biasiotto G., Camaschella C., Forni G.L., Polotti A., Zecchina G., Arosio P. New TFR2 mutations in young Italian patients with hemochromatosis. Haematologica 2008, 93:309-310.
-
(2008)
Haematologica
, vol.93
, pp. 309-310
-
-
Biasiotto, G.1
Camaschella, C.2
Forni, G.L.3
Polotti, A.4
Zecchina, G.5
Arosio, P.6
-
4
-
-
0034022636
-
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
-
Camaschella C., Roetto A., Calì A., De Gobbi M., Garozzo G., Carella M., Majorano N., Totaro A., Gasparini P. 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
De Gobbi, M.4
Garozzo, G.5
Carella, M.6
Majorano, N.7
Totaro, A.8
Gasparini, P.9
-
5
-
-
79958060912
-
Hyperferritinemia, ferropenia and metabolic syndrome in a patient with a new mutation of gene TFR2 and another in gene FTL. A family study
-
Del Castillo-Rueda A., Moreno-Carralero M.I., Cuadrado-Grande N., Méndez M., Morán-Jiménez M.J. Hyperferritinemia, ferropenia and metabolic syndrome in a patient with a new mutation of gene TFR2 and another in gene FTL. A family study. Med. Clin. (Barc.) 2011, 137:68-72.
-
(2011)
Med. Clin. (Barc.)
, vol.137
, pp. 68-72
-
-
Del Castillo-Rueda, A.1
Moreno-Carralero, M.I.2
Cuadrado-Grande, N.3
Méndez, M.4
Morán-Jiménez, M.J.5
-
6
-
-
84865531574
-
Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis
-
Del-Castillo-Rueda A., Moreno-Carralero M.I., Cuadrado-Grande N., Alvarez-Sala-Walther L.A., Enríquez-de-Salamanca R., Méndez M., Morán-Jiménez M.J. 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
Alvarez-Sala-Walther, L.A.4
Enríquez-de-Salamanca, R.5
Méndez, M.6
Morán-Jiménez, M.J.7
-
7
-
-
43449119544
-
Early-onset haemochromatosis caused by a novel combination of TFR2 mutations (p.R396X/c.1538-2 A>G) in a woman of Italian descent
-
Gérolami V., Le Gac G., Mercier L., Nezri M., Bergé-Lefranc J.L., Férec C. Early-onset haemochromatosis caused by a novel combination of TFR2 mutations (p.R396X/c.1538-2 A>G) in a woman of Italian descent. Haematologica 2008, 93:45-46.
-
(2008)
Haematologica
, vol.93
, pp. 45-46
-
-
Gérolami, V.1
Le Gac, G.2
Mercier, L.3
Nezri, M.4
Bergé-Lefranc, J.L.5
Férec, C.6
-
8
-
-
0036242163
-
Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene
-
Girelli D., Bozzini C., Roetto A., Alberti F., Daraio F., Colombari R., Olivieri O., Corrocher R., Camaschella C. Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. Gastroenterology 2002, 122:1295-1302.
-
(2002)
Gastroenterology
, vol.122
, pp. 1295-1302
-
-
Girelli, D.1
Bozzini, C.2
Roetto, A.3
Alberti, F.4
Daraio, F.5
Colombari, R.6
Olivieri, O.7
Corrocher, R.8
Camaschella, C.9
-
9
-
-
34347369737
-
A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis
-
Hsiao P.J., Tsai K.B., Shin S.J., Wang C.L., Lee S.T., Lee J.F., Kuo K.K. A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis. J. Hepatol. 2007, 47:303-306.
-
(2007)
J. Hepatol.
, vol.47
, pp. 303-306
-
-
Hsiao, P.J.1
Tsai, K.B.2
Shin, S.J.3
Wang, C.L.4
Lee, S.T.5
Lee, J.F.6
Kuo, K.K.7
-
10
-
-
20144381350
-
Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis
-
Koyama C., Wakusawa S., Hayashi H., Suzuki R., Yano M., Yoshioka K., Kozuru M., Takayamam Y., Okada T., Mabuchi H. Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis. Haematologica 2005, 90:302-307.
-
(2005)
Haematologica
, vol.90
, pp. 302-307
-
-
Koyama, C.1
Wakusawa, S.2
Hayashi, H.3
Suzuki, R.4
Yano, M.5
Yoshioka, K.6
Kozuru, M.7
Takayamam, Y.8
Okada, T.9
Mabuchi, H.10
-
11
-
-
31144454607
-
Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R
-
Lee P.L., Barton J.C. Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R. Acta Haematol. 2006, 115:102-105.
-
(2006)
Acta Haematol.
, vol.115
, pp. 102-105
-
-
Lee, P.L.1
Barton, J.C.2
-
12
-
-
2942582341
-
Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent
-
Le Gac G., Mons F., Jacolot S., Scotet V., Férec C., Frébourg T. Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent. Br. J. Haematol. 2004, 125:674-678.
-
(2004)
Br. J. Haematol.
, vol.125
, pp. 674-678
-
-
Le Gac, G.1
Mons, F.2
Jacolot, S.3
Scotet, V.4
Férec, C.5
Frébourg, T.6
-
13
-
-
0036683019
-
Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation
-
Mattman A., Huntsman D., Lockitch G., Langlois S., Buskard N., Ralston D., Butterfield Y., Rodrigues P., Jones S., Porto G., Marra M., De Sousa M., Vatcher G. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. Blood 2002, 100:1075-1077.
-
(2002)
Blood
, vol.100
, pp. 1075-1077
-
-
Mattman, A.1
Huntsman, D.2
Lockitch, G.3
Langlois, S.4
Buskard, N.5
Ralston, D.6
Butterfield, Y.7
Rodrigues, P.8
Jones, S.9
Porto, G.10
Marra, M.11
De Sousa, M.12
Vatcher, G.13
-
14
-
-
59449107280
-
Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2
-
Pelucchi S., Mariani R., Trombini P., Coletti S., Pozzi M., Paolini V., Barisani D., Piperno A. Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2. Haematologica 2009, 94:276-279.
-
(2009)
Haematologica
, vol.94
, pp. 276-279
-
-
Pelucchi, S.1
Mariani, R.2
Trombini, P.3
Coletti, S.4
Pozzi, M.5
Paolini, V.6
Barisani, D.7
Piperno, A.8
-
15
-
-
28444436913
-
Non-HFE hemochromatosis
-
Pietrangelo A. Non-HFE hemochromatosis. Semin. Liver Dis. 2005, 25:450-460.
-
(2005)
Semin. Liver Dis.
, vol.25
, pp. 450-460
-
-
Pietrangelo, A.1
-
16
-
-
70349968176
-
Natural history of TFR2-related hereditary hemochromatosis in a 47-yr-old Italian patient
-
Ricerca B.M., Radio F.C., De Marinis L., De Bernardo C., Castori M., Sacco E., Grammatico P., Majore S. Natural history of TFR2-related hereditary hemochromatosis in a 47-yr-old Italian patient. Eur. J. Haematol. 2009, 83:494-496.
-
(2009)
Eur. J. Haematol.
, vol.83
, pp. 494-496
-
-
Ricerca, B.M.1
Radio, F.C.2
De Marinis, L.3
De Bernardo, C.4
Castori, M.5
Sacco, E.6
Grammatico, P.7
Majore, S.8
-
17
-
-
0035353167
-
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
-
Roetto A., Totaro A., Piperno A., Piga A., Longo F., Garozzo G., Calì A., De Gobbi M., Gasparini P., Camaschella C. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood 2001, 97:2555-2560.
-
(2001)
Blood
, vol.97
, pp. 2555-2560
-
-
Roetto, A.1
Totaro, A.2
Piperno, A.3
Piga, A.4
Longo, F.5
Garozzo, G.6
Calì, A.7
De Gobbi, M.8
Gasparini, P.9
Camaschella, C.10
-
18
-
-
84869887673
-
Type 3 hereditary hemochromatosis in a patient from sub-Saharan Africa: Is there a link between African iron overload and TFR2 dysfunctionα
-
Majore S., Ricerca B.M., Radio F.C., Binni F., Cosentino I., Gallusi G., De Bernardo C., Morrone A., Grammatico P. Type 3 hereditary hemochromatosis in a patient from sub-Saharan Africa: Is there a link between African iron overload and TFR2 dysfunctionα. Blood Cells Mol. Dis. 2013, 50:31-32.
-
(2013)
Blood Cells Mol. Dis.
, vol.50
, pp. 31-32
-
-
Majore, S.1
Ricerca, B.M.2
Radio, F.C.3
Binni, F.4
Cosentino, I.5
Gallusi, G.6
De Bernardo, C.7
Morrone, A.8
Grammatico, P.9
-
19
-
-
0035049344
-
Mutation analysis of the transferrin receptor-2 gene in patients with iron overload
-
Lee P.L., Halloran C., West C., Beutler E. Mutation analysis of the transferrin receptor-2 gene in patients with iron overload. Blood Cells Mol. Dis. 2001, 27:285-289.
-
(2001)
Blood Cells Mol. Dis.
, vol.27
, pp. 285-289
-
-
Lee, P.L.1
Halloran, C.2
West, C.3
Beutler, E.4
-
20
-
-
0034164559
-
A novel polymorphism (219G>A) in the transferrin receptor gene
-
Meregalli M., Corbetta N., Pellagatti A., Martinez di Montemuros F., Tavazzi D., Fargion S., Sampietro M. A novel polymorphism (219G>A) in the transferrin receptor gene. Hum. Mutat. 2000, 15:389.
-
(2000)
Hum. Mutat.
, vol.15
, pp. 389
-
-
Meregalli, M.1
Corbetta, N.2
Pellagatti, A.3
Martinez di Montemuros, F.4
Tavazzi, D.5
Fargion, S.6
Sampietro, M.7
-
21
-
-
0036682965
-
Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis
-
Hofmann W.K., Tong X.J., Ajioka R.S., Kushner J.P., Koeffler H.P. Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis. Blood 2002, 100:1099-1100.
-
(2002)
Blood
, vol.100
, pp. 1099-1100
-
-
Hofmann, W.K.1
Tong, X.J.2
Ajioka, R.S.3
Kushner, J.P.4
Koeffler, H.P.5
|