-
1
-
-
13344260008
-
A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome
-
Barrientos A, Volpini V, Casademont J, Genís D, Manzanares JP, Ferrer I, Corral J, Cardellach F, Urbano-Márquez A, Estivill X, Nunes V (1996) A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. J Clin Invest 97: 1570-1576
-
(1996)
J Clin Invest
, vol.97
, pp. 1570-1576
-
-
Barrientos, A.1
Volpini, V.2
Casademont, J.3
Genís, D.4
Manzanares, J.P.5
Ferrer, I.6
Corral, J.7
Cardellach, F.8
Urbano-Márquez, A.9
Estivill, X.10
Nunes, V.11
-
2
-
-
0026753325
-
Mitochondrial abnormalities in the DID- MOAD syndrome
-
Bundey S, Poulton K, Whitwell H, Curtis E, Brown IAR, Fielder AR (1992) Mitochondrial abnormalities in the DID- MOAD syndrome. J Inherit Metab Dis 15: 315-319
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 315-319
-
-
Bundey, S.1
Poulton, K.2
Whitwell, H.3
Curtis, E.4
Brown, I.A.R.5
Fielder, A.R.6
-
3
-
-
0017729442
-
Simultaneous occurrence of diabetes mellitus, diabetes insipidus, and optic atrophy in a brother and sister
-
Carson MJ, Slager UT, Steinberg RM (1977) Simultaneous occurrence of diabetes mellitus, diabetes insipidus, and optic atrophy in a brother and sister. Am J Dis Child 131: 1382-1385
-
(1977)
Am J Dis Child
, vol.131
, pp. 1382-1385
-
-
Carson, M.J.1
Slager, U.T.2
Steinberg, R.M.3
-
4
-
-
0017764306
-
Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome)
-
Cremers CWRJ, Wijdeveld PGAB, Pinckers AJLG (1977) Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). Acta Paeditr Scand Suppl 264: 1-16
-
(1977)
Acta Paeditr Scand Suppl
, vol.264
, pp. 1-16
-
-
Cremers, C.W.R.J.1
Wijdeveld, P.G.A.B.2
Pinckers, A.J.L.G.3
-
5
-
-
0028304922
-
Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness
-
Jackson MJ, Bindoff LA, Weber K, Wilson JN, Ince P, Alberti KGMM, Turnbull DM (1994) Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Diabetes Care 17: 728-733
-
(1994)
Diabetes Care
, vol.17
, pp. 728-733
-
-
Jackson, M.J.1
Bindoff, L.A.2
Weber, K.3
Wilson, J.N.4
Ince, P.5
Alberti, K.G.M.M.6
Turnbull, D.M.7
-
6
-
-
0020004003
-
DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) with cerebellopontine atrophy
-
Kehl O, Keller U (1982) DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) with cerebellopontine atrophy. Schweiz Med Wochenschr 112: 348-352
-
(1982)
Schweiz Med Wochenschr
, vol.112
, pp. 348-352
-
-
Kehl, O.1
Keller, U.2
-
7
-
-
0020663535
-
Diabetes mellitus and optic atrophy in two siblings: A report on a new case and a review of the literature
-
Khardori R, Stephens JW, Page OC, Dow RS (1983) Diabetes mellitus and optic atrophy in two siblings: a report on a new case and a review of the literature. Diabetes Care 6: 67-70
-
(1983)
Diabetes Care
, vol.6
, pp. 67-70
-
-
Khardori, R.1
Stephens, J.W.2
Page, O.C.3
Dow, R.S.4
-
9
-
-
0021968147
-
Association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness
-
Najjar SS, Saikaly MG, Zaytoun GM, Abdelnoor A (1985) Association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Arch Dis Child 60: 823-828
-
(1985)
Arch Dis Child
, vol.60
, pp. 823-828
-
-
Najjar, S.S.1
Saikaly, M.G.2
Zaytoun, G.M.3
Abdelnoor, A.4
-
10
-
-
0028038337
-
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
-
Polymeropoulos MH, Swift RG, Swift M (1994) Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Nature Genet 8: 95-97
-
(1994)
Nature Genet
, vol.8
, pp. 95-97
-
-
Polymeropoulos, M.H.1
Swift, R.G.2
Swift, M.3
-
11
-
-
0017546908
-
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness: 3 cases of DIDMOAD syndrome
-
Richardson JE, Hamilton W (1977) Diabetes insipidus, diabetes mellitus, optic atrophy and deafness: 3 cases of DIDMOAD syndrome. Arch Dis Child 52: 796-798
-
(1977)
Arch Dis Child
, vol.52
, pp. 796-798
-
-
Richardson, J.E.1
Hamilton, W.2
-
12
-
-
0027526665
-
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300)
-
Rötig AV, Cormier P, Chatelain R, Francois R, Saudubray JM, Rustin P, Munnich A (1993) Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). J Clin Invest 91: 1095-1098
-
(1993)
J Clin Invest
, vol.91
, pp. 1095-1098
-
-
Rötig, A.V.1
Cormier, P.2
Chatelain, R.3
Francois, R.4
Saudubray, J.M.5
Rustin, P.6
Munnich, A.7
-
13
-
-
0027372207
-
Cytochrome c oxidase deficiency and neuronal involvement in Menkes' kinky hair disease: Immunohistochemical study
-
Sparaco M, Hirano A, Hirano M, DiMauo S, Bonilla E (1993) Cytochrome c oxidase deficiency and neuronal involvement in Menkes' kinky hair disease: immunohistochemical study. Brain Pathol 3: 349-354
-
(1993)
Brain Pathol
, vol.3
, pp. 349-354
-
-
Sparaco, M.1
Hirano, A.2
Hirano, M.3
DiMauo, S.4
Bonilla, E.5
-
14
-
-
0025081836
-
Psychiatric findings in Wolfram syndrome homozygotes
-
Swift RG, Sadler DB, Swift M (1990) Psychiatric findings in Wolfram syndrome homozygotes. Lancet 336: 667-669
-
(1990)
Lancet
, vol.336
, pp. 667-669
-
-
Swift, R.G.1
Sadler, D.B.2
Swift, M.3
-
15
-
-
0000804149
-
Diabetes mellitus and simple optic atrophy among siblings: Report of four cases
-
Wolfram DJ, Wagener HP (1938) Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin Proc 9: 715-718
-
(1938)
Mayo Clin Proc
, vol.9
, pp. 715-718
-
-
Wolfram, D.J.1
Wagener, H.P.2
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