-
1
-
-
1542288708
-
Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive anemia syndrome
-
Lagarde W.H., Underwood L.E., Moats-Staats B.M., and Calikoglu A.S. Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive anemia syndrome. Am J Med Genetics 125A (2004) 299-305
-
(2004)
Am J Med Genetics
, vol.125 A
, pp. 299-305
-
-
Lagarde, W.H.1
Underwood, L.E.2
Moats-Staats, B.M.3
Calikoglu, A.S.4
-
2
-
-
84903957509
-
Prevalence of rare diseases: Bibliographic data
-
Aug 2008 9, Available at
-
Orphanet Report Series. Prevalence of rare diseases: bibliographic data. Aug 2008 (9). Available at http://www.orpha.net/orphacom/cahiers/docs
-
Orphanet Report Series
-
-
-
3
-
-
0024547537
-
Thiamine-responsive anemia in DIDMOAD syndrome
-
Borgna-Pignatti C., Marradi P., Pinelli L., Monetti N., and Patrini C. Thiamine-responsive anemia in DIDMOAD syndrome. J Pediatr 114 (1989) 405-410
-
(1989)
J Pediatr
, vol.114
, pp. 405-410
-
-
Borgna-Pignatti, C.1
Marradi, P.2
Pinelli, L.3
Monetti, N.4
Patrini, C.5
-
4
-
-
17344368928
-
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome on the long arm of chromosome 1, by homozygosity mapping
-
Neufeld E.J., Mandel H., Raz T., Szargel R., Yandava C.N., Stagg A., et al. Localization of the gene for thiamine-responsive megaloblastic anemia syndrome on the long arm of chromosome 1, by homozygosity mapping. Am J Hum Genet 61 (1997) 1335-1341
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1335-1341
-
-
Neufeld, E.J.1
Mandel, H.2
Raz, T.3
Szargel, R.4
Yandava, C.N.5
Stagg, A.6
-
5
-
-
17344362695
-
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
-
Inoue H., Tanizawa Y., Wasson J., Behn P., Kalidas K., Bernal-Mizrachi E., et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 20 (1998) 143-148
-
(1998)
Nat Genet
, vol.20
, pp. 143-148
-
-
Inoue, H.1
Tanizawa, Y.2
Wasson, J.3
Behn, P.4
Kalidas, K.5
Bernal-Mizrachi, E.6
-
6
-
-
0032990411
-
Mutations in SLC19A2 cause thiamine-responsive megaloblastic anemia associated with diabetes mellitus and deafness
-
Labay V., Raz T., Baron D., Mandel H., Williams H., Barrett T., et al. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anemia associated with diabetes mellitus and deafness. Nat Genet 22 (1999) 300-304
-
(1999)
Nat Genet
, vol.22
, pp. 300-304
-
-
Labay, V.1
Raz, T.2
Baron, D.3
Mandel, H.4
Williams, H.5
Barrett, T.6
-
7
-
-
34447512789
-
Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines
-
Subramanian V.S., Marchant J.S., and Said H.M. Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines. Clin Sci(Lond) 113 (2007) 93-102
-
(2007)
Clin Sci(Lond)
, vol.113
, pp. 93-102
-
-
Subramanian, V.S.1
Marchant, J.S.2
Said, H.M.3
-
8
-
-
70349470769
-
A novel mutation in the SLC19A2 gene in a turkish female with thiamine-responsive megaloblastic anemia syndrome
-
[Epub ahead of print]
-
Yesilkaya E., Bideci A., Temizkan M., Kaya Z., Camurdan O., Koç A., et al. A novel mutation in the SLC19A2 gene in a turkish female with thiamine-responsive megaloblastic anemia syndrome. J Trop Pediatr (2008 Jul 9) [Epub ahead of print]
-
(2008)
J Trop Pediatr
-
-
Yesilkaya, E.1
Bideci, A.2
Temizkan, M.3
Kaya, Z.4
Camurdan, O.5
Koç, A.6
-
9
-
-
0036705807
-
Lack of plasma membrane targeting of G172D mutant thiamine transporter derived from Rogers syndrome family
-
Baron D., Assaraf Y.G., Cohen N., and Aronheim A. Lack of plasma membrane targeting of G172D mutant thiamine transporter derived from Rogers syndrome family. Mol Med 8 (2002) 462-474
-
(2002)
Mol Med
, vol.8
, pp. 462-474
-
-
Baron, D.1
Assaraf, Y.G.2
Cohen, N.3
Aronheim, A.4
-
10
-
-
0036850440
-
Targeted disruption of SLC19A2, the gene encoding the high affinity thiamine transporter THTR-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice
-
Oishi K., Hofmann S., Diaz G.A., Brown T., Manwani D., Ng L., et al. Targeted disruption of SLC19A2, the gene encoding the high affinity thiamine transporter THTR-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice. Hum Mol Genet 11 (2002) 2951-2960
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2951-2960
-
-
Oishi, K.1
Hofmann, S.2
Diaz, G.A.3
Brown, T.4
Manwani, D.5
Ng, L.6
-
11
-
-
29944432489
-
Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families
-
Ricketts C.J., Minton J.A., Samuel J., Ariyawansa I., Wales J.K., Lo I.F., et al. Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families. Acta Paediatr 95 (2006) 99-104
-
(2006)
Acta Paediatr
, vol.95
, pp. 99-104
-
-
Ricketts, C.J.1
Minton, J.A.2
Samuel, J.3
Ariyawansa, I.4
Wales, J.K.5
Lo, I.F.6
-
12
-
-
2642611126
-
Long-term follow-up of diabetes in two patients with TRMA syndrome
-
Valerio G., Franzese A., Poggi V., and Tenore A. Long-term follow-up of diabetes in two patients with TRMA syndrome. Diabetes Care 21 (1998) 38-41
-
(1998)
Diabetes Care
, vol.21
, pp. 38-41
-
-
Valerio, G.1
Franzese, A.2
Poggi, V.3
Tenore, A.4
-
13
-
-
33747048167
-
Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype
-
Liberman M.C., Tartaglini E., Fleming J.C., and Neufeld E.J. Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype. J Assoc Res Otolaryngol 7 (2006) 211-217
-
(2006)
J Assoc Res Otolaryngol
, vol.7
, pp. 211-217
-
-
Liberman, M.C.1
Tartaglini, E.2
Fleming, J.C.3
Neufeld, E.J.4
-
14
-
-
80054700190
-
Scientific Opinion of the Panel on Food Additives and Nutrient Sources added to Food (ANS) on a request from the Commission on benfotiamine, thiamine monophosphate chloride and thiamine pyrophosphate chloride, as sources of vitamin B1
-
Scientific Opinion of the Panel on Food Additives and Nutrient Sources added to Food (ANS) on a request from the Commission on benfotiamine, thiamine monophosphate chloride and thiamine pyrophosphate chloride, as sources of vitamin B1. EFSA J 864 (2008) 1-31
-
(2008)
EFSA J
, vol.864
, pp. 1-31
-
-
-
15
-
-
0034489239
-
Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy
-
Meire F.M., Van Genderen M.M., Lemmens K., and Ens-Dokkum M.H. Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy. Ophtalmic Genet 21 (2000) 243-250
-
(2000)
Ophtalmic Genet
, vol.21
, pp. 243-250
-
-
Meire, F.M.1
Van Genderen, M.M.2
Lemmens, K.3
Ens-Dokkum, M.H.4
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