-
1
-
-
0029922450
-
Thyroxine-binding globulin: Organization of the gene and variants
-
Refetoff S, Murata Y, Mori Y, Janssen OE, Takeda K Hyashi Y 1996 Thyroxine-binding globulin: organization of the gene and variants. Horm Res 45:128-138.
-
(1996)
Horm Res
, vol.45
, pp. 128-138
-
-
Refetoff, S.1
Murata, Y.2
Mori, Y.3
Janssen, O.E.4
Takeda, K.5
Hyashi, Y.6
-
2
-
-
0033997885
-
The thyroxine-binding proteins
-
Schussler GC 2000 The thyroxine-binding proteins. Thyroid 10:141-149.
-
(2000)
Thyroid
, vol.10
, pp. 141-149
-
-
Schussler, G.C.1
-
3
-
-
0029099776
-
Precise localization of the human thyroxine-binding globulin gene to chromosome Xq22.2 by fluorescence in situ hybridization
-
Mori Y, Miura Y, Oiso Y, Hisao S, Takazumi K 1995 Precise localization of the human thyroxine-binding globulin gene to chromosome Xq22.2 by fluorescence in situ hybridization. Hum Genet 96:481-482.
-
(1995)
Hum Genet
, vol.96
, pp. 481-482
-
-
Mori, Y.1
Miura, Y.2
Oiso, Y.3
Hisao, S.4
Takazumi, K.5
-
4
-
-
0006583903
-
Complete amino acid sequence of human thyroxine-binding globulin (TBG) deduced from cloned DNA: Close homology to the serine antiproteases
-
Flink IL, Bailey TJ, Gustefson TA, Markham BE, Morkin E 1986 Complete amino acid sequence of human thyroxine-binding globulin (TBG) deduced from cloned DNA: close homology to the serine antiproteases. Proc Natl Acad Sci USA 83:7708-7712.
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 7708-7712
-
-
Flink, I.L.1
Bailey, T.J.2
Gustefson, T.A.3
Markham, B.E.4
Morkin, E.5
-
5
-
-
0348088142
-
Inheritance of decreased thyroxine-binding by the thyroxine-binding globulin
-
Nicoloff JT, Dowling JT, Patton DD 1964 Inheritance of decreased thyroxine-binding by the thyroxine-binding globulin. J Clin Endocrinol Metab 24:294-298.
-
(1964)
J Clin Endocrinol Metab
, vol.24
, pp. 294-298
-
-
Nicoloff, J.T.1
Dowling, J.T.2
Patton, D.D.3
-
6
-
-
0035972231
-
Hereditary thyroxin-binding globulin deficiency-changed thyroxin function tests
-
Kvistad PH, Myking OL 2001 Hereditary thyroxin-binding globulin deficiency-changed thyroxin function tests. Tidsskr Nor Laegeforen 121:1336-1338.
-
(2001)
Tidsskr Nor Laegeforen
, vol.121
, pp. 1336-1338
-
-
Kvistad, P.H.1
Myking, O.L.2
-
7
-
-
0025192991
-
Replacement of Leu 227 by Pro in thyroxine-binding globulin (TBG) is associated with complete TBG deficiency in three of eight families with this inherited defect
-
Mori Y, Takeda K, Charbonneau M, Refetoff S 1990 Replacement of Leu 227 by Pro in thyroxine-binding globulin (TBG) is associated with complete TBG deficiency in three of eight families with this inherited defect. J Clin Endocrinol Metab 70:804-809.
-
(1990)
J Clin Endocrinol Metab
, vol.70
, pp. 804-809
-
-
Mori, Y.1
Takeda, K.2
Charbonneau, M.3
Refetoff, S.4
-
8
-
-
0026000930
-
Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG deficiency
-
Li P, Janssen OE, Takeda K, Bertenshaw RH, Refetoff S 1991 Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG deficiency. Metabolism 40:1231-1234.
-
(1991)
Metabolism
, vol.40
, pp. 1231-1234
-
-
Li, P.1
Janssen, O.E.2
Takeda, K.3
Bertenshaw, R.H.4
Refetoff, S.5
-
9
-
-
0026093585
-
Nucleotide deletion resulting in frameshift as a possible cause of complete thyroxine-binding globulin deficiency in six Japanese families
-
Yamamori I, Mori Y, Seo H, Hirooka Y, Imamura S, Miura Y, Matsui N, Oiso Y 1991 Nucleotide deletion resulting in frameshift as a possible cause of complete thyroxine-binding globulin deficiency in six Japanese families. J Clin Endocrinol Metab 73:262-267.
-
(1991)
J Clin Endocrinol Metab
, vol.73
, pp. 262-267
-
-
Yamamori, I.1
Mori, Y.2
Seo, H.3
Hirooka, Y.4
Imamura, S.5
Miura, Y.6
Matsui, N.7
Oiso, Y.8
-
10
-
-
8544247226
-
A novel mutation causing complete deficiency of thyroxine-binding globulin
-
Oxf
-
Ueta Y, Mitani Y, Yoshida A, Taniguchi S, Mori A, Haattori K, Hisatome I, Manabe I, Takeda K, Sato R, Ahmmed GU, Tsuboi M, Ohtahara A, Hiroe K, Tanaka Y, Shigemasa C 1997 A novel mutation causing complete deficiency of thyroxine-binding globulin. Clin Endocrinol (Oxf ) 47:1-5.
-
(1997)
Clin Endocrinol
, vol.47
, pp. 1-5
-
-
Ueta, Y.1
Mitani, Y.2
Yoshida, A.3
Taniguchi, S.4
Mori, A.5
Haattori, K.6
Hisatome, I.7
Manabe, I.8
Takeda, K.9
Sato, R.10
Ahmmed, G.U.11
Tsuboi, M.12
Ohtahara, A.13
Hiroe, K.14
Tanaka, Y.15
Shigemasa, C.16
-
11
-
-
0031773503
-
Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee)
-
Carvalho GA, Weiss RE, Refetoff S 1998 Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee). J Clin Endocrinol Metab 83:3604-3608.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 3604-3608
-
-
Carvalho, G.A.1
Weiss, R.E.2
Refetoff, S.3
-
12
-
-
0031952921
-
Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene
-
Carvalho GA, Weiss RE, Vladutiu AO, Refetoff S 1998 Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene. Thyroid 8:161-165.
-
(1998)
Thyroid
, vol.8
, pp. 161-165
-
-
Carvalho, G.A.1
Weiss, R.E.2
Vladutiu, A.O.3
Refetoff, S.4
-
13
-
-
0033756442
-
A novelmutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedoins in Southern Israel
-
Miura Y, Hershkovitz E, Inagaki A, Parvari R, Oiso Y, Phillip M2000 A novelmutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedoins in Southern Israel. J Clin Endocrinol Metab 85:3687-3689.
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 3687-3689
-
-
Miura, Y.1
Hershkovitz, E.2
Inagaki, A.3
Parvari, R.4
Oiso, Y.5
Phillip, M.6
-
14
-
-
0034750211
-
Three novel mutations causing complete T(4)-binding globulin deficiency
-
Reutrakul S, Janssen OE, Refetoff S 2001 Three novel mutations causing complete T(4)-binding globulin deficiency. J Clin Endocrinol Metab 86:5039-5044.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 5039-5044
-
-
Reutrakul, S.1
Janssen, O.E.2
Refetoff, S.3
-
15
-
-
0036964301
-
Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG gene: In vitro demonstration of exon skipping
-
Reutrakul S, Dumitrescu A, Macchia PE, Moll GW Jr, Vierhapper F, Refetoff S 2002 Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG gene: in vitro demonstration of exon skipping. J Clin Endocrinol Metab 87:1045-1051.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 1045-1051
-
-
Reutrakul, S.1
Dumitrescu, A.2
Macchia, P.E.3
Moll Jr, G.W.4
Vierhapper, F.5
Refetoff, S.6
-
16
-
-
0036227549
-
The novel variants in the thyroxine-binding globulin (TBG) gene behind the diagnosis of TBG deficiency
-
Dominques R, Bugalho MJ, Garrao A, Boavida JM, Sobrinho L 2002 The novel variants in the thyroxine-binding globulin (TBG) gene behind the diagnosis of TBG deficiency. Eur J Endocrinol 146:485-490.
-
(2002)
Eur J Endocrinol
, vol.146
, pp. 485-490
-
-
Dominques, R.1
Bugalho, M.J.2
Garrao, A.3
Boavida, J.M.4
Sobrinho, L.5
-
17
-
-
0344211449
-
Two novel mutations in the TBG gene encoding thyroxine-binding globulin (TBG) as a cause of complete TBG deficiency in Taiwan
-
Su CC, Wu YC, Chiu CY, Won JG, Jap TS 2003 Two novel mutations in the TBG gene encoding thyroxine-binding globulin (TBG) as a cause of complete TBG deficiency in Taiwan. Clin Endocrinol (Oxf) 58:409-414.
-
(2003)
Clin Endocrinol (Oxf)
, vol.58
, pp. 409-414
-
-
Su, C.C.1
Wu, Y.C.2
Chiu, C.Y.3
Won, J.G.4
Jap, T.S.5
-
18
-
-
33749186774
-
TBG deficiency: Description of two novel mutations associated with complete TBG deficiency and review literature
-
Mannavola D, Vannucchi G, Fugazzola L, Cirello V, Campi I, Radetti G, Persani L, Refetoff S, Beck-Peccoz P 2006 TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review literature. J Mol Med 84:864-871.
-
(2006)
J Mol Med
, vol.84
, pp. 864-871
-
-
Mannavola, D.1
Vannucchi, G.2
Fugazzola, L.3
Cirello, V.4
Campi, I.5
Radetti, G.6
Persani, L.7
Refetoff, S.8
Beck-Peccoz, P.9
-
19
-
-
33747644918
-
C-terminal amino acid alteration rather than late termination causes complete deficiency of thyroxine-binding globulin CD-NeuIsenburg
-
Moeller LC, Fingerhaut A, Lahner H, Grasberger H, Weimer B, Happ J, Mann K, Janssen OE 2006 C-terminal amino acid alteration rather than late termination causes complete deficiency of thyroxine-binding globulin CD-NeuIsenburg. J Clin Endocrinol Metab 91:3215-3218.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 3215-3218
-
-
Moeller, L.C.1
Fingerhaut, A.2
Lahner, H.3
Grasberger, H.4
Weimer, B.5
Happ, J.6
Mann, K.7
Janssen, O.E.8
-
20
-
-
0033045419
-
Autosomally transmitted low concentration of thyroxine-binding globulin
-
Kobayashi H, Sakurai A, Katai M, Hashizume K 1999 Autosomally transmitted low concentration of thyroxine-binding globulin. Thyroid 9:159-163.
-
(1999)
Thyroid
, vol.9
, pp. 159-163
-
-
Kobayashi, H.1
Sakurai, A.2
Katai, M.3
Hashizume, K.4
-
21
-
-
0020663148
-
Thyroid function in goitrous subjects with thyroxine binding globulin deficiency
-
Callan FP, Duffy MJ, Duff GJ, Farrel RJ, McKenna TJ 1983 Thyroid function in goitrous subjects with thyroxine binding globulin deficiency. Acta Endocrinol (Copenh) 102:527-530.
-
(1983)
Acta Endocrinol (Copenh)
, vol.102
, pp. 527-530
-
-
Callan, F.P.1
Duffy, M.J.2
Duff, G.J.3
Farrel, R.J.4
McKenna, T.J.5
-
22
-
-
0020578366
-
Elevated serum thyroglobulin level in congenital thyroxine-binding globulin (TBG) deficiency
-
Sarne D, Barokas K, Schenberg NH, Refetoff S 1983 Elevated serum thyroglobulin level in congenital thyroxine-binding globulin (TBG) deficiency. J Clin Endocrinol Metab 57:665-669.
-
(1983)
J Clin Endocrinol Metab
, vol.57
, pp. 665-669
-
-
Sarne, D.1
Barokas, K.2
Schenberg, N.H.3
Refetoff, S.4
|