-
1
-
-
0141891099
-
Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter
-
Friesema EC, Ganguly S, Abdalla A, Manning Fox JE, Halestrap AP, Visser TJ 2003 Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. J Biol Chem 278:40128-40135
-
(2003)
J Biol Chem
, vol.278
, pp. 40128-40135
-
-
Friesema, E.C.1
Ganguly, S.2
Abdalla, A.3
Manning Fox, J.E.4
Halestrap, A.P.5
Visser, T.J.6
-
2
-
-
0347634343
-
-
Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S 2004 A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet [Erratum (2004) 74:598] 74:168-175
-
Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S 2004 A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet [Erratum (2004) 74:598] 74:168-175
-
-
-
-
3
-
-
5644276275
-
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
-
Friesema EC, Grueters A, Biebermann H, Krude H, von Moers A, Reeser M, Barrett TG, Mancilla EE, Svensson J, Kester MH, Kuiper GG, Balkassmi S, Uitterlinden AG, Koehrle J, Rodien P, Halestrap AP, Visser TJ 2004 Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet 364:1435-1437
-
(2004)
Lancet
, vol.364
, pp. 1435-1437
-
-
Friesema, E.C.1
Grueters, A.2
Biebermann, H.3
Krude, H.4
von Moers, A.5
Reeser, M.6
Barrett, T.G.7
Mancilla, E.E.8
Svensson, J.9
Kester, M.H.10
Kuiper, G.G.11
Balkassmi, S.12
Uitterlinden, A.G.13
Koehrle, J.14
Rodien, P.15
Halestrap, A.P.16
Visser, T.J.17
-
4
-
-
34347216037
-
-
Jansen J, Friesema EC, Kester MH, Milici C, Reeser M, Gruters A, Barrett TG, Mancilla EE, Svensson J, Wemeau JL, Busi da Silva Canalli MH, Lundgren J, McEntagart ME, Hopper N, Arts WF, Visser TJ 2007 Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine. J Clin Endocrinol Metab 92:2378-2381
-
Jansen J, Friesema EC, Kester MH, Milici C, Reeser M, Gruters A, Barrett TG, Mancilla EE, Svensson J, Wemeau JL, Busi da Silva Canalli MH, Lundgren J, McEntagart ME, Hopper N, Arts WF, Visser TJ 2007 Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine. J Clin Endocrinol Metab 92:2378-2381
-
-
-
-
5
-
-
20544454120
-
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene
-
Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J, Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson RE 2005 Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet 77:41-53
-
(2005)
Am J Hum Genet
, vol.77
, pp. 41-53
-
-
Schwartz, C.E.1
May, M.M.2
Carpenter, N.J.3
Rogers, R.C.4
Martin, J.5
Bialer, M.G.6
Ward, J.7
Sanabria, J.8
Marsa, S.9
Lewis, J.A.10
Echeverri, R.11
Lubs, H.A.12
Voeller, K.13
Simensen, R.J.14
Stevenson, R.E.15
-
6
-
-
34748832271
-
Resting energy expenditure in children with neonatal chronic lung disease and obstruction of the airways
-
Bott L, Beghin L, Hankard R, Pierrat V, Gondon E, Gottrand F 2007 Resting energy expenditure in children with neonatal chronic lung disease and obstruction of the airways. Br J Nutr 98:796-801
-
(2007)
Br J Nutr
, vol.98
, pp. 796-801
-
-
Bott, L.1
Beghin, L.2
Hankard, R.3
Pierrat, V.4
Gondon, E.5
Gottrand, F.6
-
7
-
-
0021776312
-
Predicting basal metabolic rate, next standards and review of previous work
-
Schofield WN 1985 Predicting basal metabolic rate, next standards and review of previous work. Hum Clin Nutr 39:5-42
-
(1985)
Hum Clin Nutr
, vol.39
, pp. 5-42
-
-
Schofield, W.N.1
-
8
-
-
0000033737
-
Some examples of the inheritance of mental deficiency: Apparently sex-linked idiocy and microcephaly
-
Allan W, Herndon C, Dudley F 1944 Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly. Am J Ment Defic 48:325-334
-
(1944)
Am J Ment Defic
, vol.48
, pp. 325-334
-
-
Allan, W.1
Herndon, C.2
Dudley, F.3
-
9
-
-
0026647270
-
Allan-Herndon-Dudley syndrome: Clinical and linkage studies on a second family
-
Bialer MG, Lawrence L, Stevenson RE, Silverberg G, Williams MK, Arena JF, Lubs HA, Schwartz CE 1992 Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. Am J Med Genet. 43:491-497
-
(1992)
Am J Med Genet
, vol.43
, pp. 491-497
-
-
Bialer, M.G.1
Lawrence, L.2
Stevenson, R.E.3
Silverberg, G.4
Williams, M.K.5
Arena, J.F.6
Lubs, H.A.7
Schwartz, C.E.8
-
10
-
-
2542502818
-
J Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction
-
Zorick TS, Kleimann S, Sertie A, Zatz M, Rosenberg S, Passos-Bueno MR 2004 J Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction. Am J Med Genet A 127:321-323
-
(2004)
Am J Med Genet A
, vol.127
, pp. 321-323
-
-
Zorick, T.S.1
Kleimann, S.2
Sertie, A.3
Zatz, M.4
Rosenberg, S.5
Passos-Bueno, M.R.6
-
11
-
-
33646396742
-
Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter
-
Maranduba CM, Friesema EC, Kok F, Kester MH, Jansen J, Sertié AL, Passos-Bueno MR, Visser TJ 2006 Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. J Med Genet 43:457-460
-
(2006)
J Med Genet
, vol.43
, pp. 457-460
-
-
Maranduba, C.M.1
Friesema, E.C.2
Kok, F.3
Kester, M.H.4
Jansen, J.5
Sertié, A.L.6
Passos-Bueno, M.R.7
Visser, T.J.8
-
12
-
-
33847400151
-
Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8
-
Trajkovic M, Visser TJ, Mittag J, Horn S, Lukas J, Darras VM, Raivich G, Bauer K, Heuer H 2007 Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8. J Clin Invest 117:627-635
-
(2007)
J Clin Invest
, vol.117
, pp. 627-635
-
-
Trajkovic, M.1
Visser, T.J.2
Mittag, J.3
Horn, S.4
Lukas, J.5
Darras, V.M.6
Raivich, G.7
Bauer, K.8
Heuer, H.9
-
13
-
-
33747590148
-
Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (MCT) 8-deficient mice
-
Dumitrescu AM, Liao XH, Weiss RE, Millen K, Refetoff S 2006 Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (MCT) 8-deficient mice. Endocrinology 147:4036-4043
-
(2006)
Endocrinology
, vol.147
, pp. 4036-4043
-
-
Dumitrescu, A.M.1
Liao, X.H.2
Weiss, R.E.3
Millen, K.4
Refetoff, S.5
-
14
-
-
0036146260
-
Cardiac involvement in thyroid hormone resistance
-
Kahaly GJ, Matthews CH, Mohr-Kahaly S, Richards CA, Chatterjee VK 2002 Cardiac involvement in thyroid hormone resistance. J Clin Endocrinol Metab 87:204-212
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 204-212
-
-
Kahaly, G.J.1
Matthews, C.H.2
Mohr-Kahaly, S.3
Richards, C.A.4
Chatterjee, V.K.5
-
15
-
-
0027241002
-
The syndromes of resistance to thyroid hormone
-
Refetoff S, Weiss RE, Usala SJ 1993 The syndromes of resistance to thyroid hormone. Endocr Rev 14:348-399
-
(1993)
Endocr Rev
, vol.14
, pp. 348-399
-
-
Refetoff, S.1
Weiss, R.E.2
Usala, S.J.3
-
16
-
-
26244446806
-
Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8
-
Biebermann H, Ambrugger P, Tarnow P, von Moers A, Schwelzer U, Grueters A 2005 Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8. Eur J Endocrinol 153:359-366
-
(2005)
Eur J Endocrinol
, vol.153
, pp. 359-366
-
-
Biebermann, H.1
Ambrugger, P.2
Tarnow, P.3
von Moers, A.4
Schwelzer, U.5
Grueters, A.6
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