-
1
-
-
0028808309
-
Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome
-
Barrett TG, Bundey SE, Macleod AJF (1995) Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 346:1458-1563
-
(1995)
Lancet
, vol.346
, pp. 1458-1563
-
-
Barrett, T.G.1
Bundey, S.E.2
Macleod, A.J.F.3
-
2
-
-
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, Genis D, Manzanares JM, Ferrer I, Corral J, Cardellach F, Urbano-Marqez A, Estivill X, Nunes V (1996a) 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
Genis, D.4
Manzanares, J.M.5
Ferrer, I.6
Corral, J.7
Cardellach, F.8
Urbano-Marqez, A.9
Estivill, X.10
Nunes, V.11
-
3
-
-
19144366747
-
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion
-
Barrientos A, Casademont J, Saiz A, Cardellach F, Volpini V, Solans A, Tolosa E, Urbano-Marquez A, Estivill X, Nunes V (1996b) Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. Am J Hum Genet 58:963-970
-
(1996)
Am J Hum Genet
, vol.58
, pp. 963-970
-
-
Barrientos, A.1
Casademont, J.2
Saiz, A.3
Cardellach, F.4
Volpini, V.5
Solans, A.6
Tolosa, E.7
Urbano-Marquez, A.8
Estivill, X.9
Nunes, V.10
-
4
-
-
0029820319
-
Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity
-
Collier DA, Barrett TG, Curtis D, Macleod A, Arranz MJ, Maassen JA, Bundey S (1996) Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity. Am J Hum Genet 59:855-863
-
(1996)
Am J Hum Genet
, vol.59
, pp. 855-863
-
-
Collier, D.A.1
Barrett, T.G.2
Curtis, D.3
Macleod, A.4
Arranz, M.J.5
Maassen, J.A.6
Bundey, S.7
-
5
-
-
0027031756
-
The genomic organization of a novel regulatory myosin light chain gene (MYL5) that maps to chromosome 4p16.3 and shows different patterns of expression between primates
-
Collins C, Schappert K, Hayden MR (1992) The genomic organization of a novel regulatory myosin light chain gene (MYL5) that maps to chromosome 4p16.3 and shows different patterns of expression between primates. Hum Mol Genet 1:727-733
-
(1992)
Hum Mol Genet
, vol.1
, pp. 727-733
-
-
Collins, C.1
Schappert, K.2
Hayden, M.R.3
-
6
-
-
0017645098
-
Diabetes mellitus, diabetes insipidus, and optic atrophy: An autosomal recessive syndrome?
-
Fraser FC, Gunn T (1977) Diabetes mellitus, diabetes insipidus, and optic atrophy: an autosomal recessive syndrome? J Med Genet 14:190-193
-
(1977)
J Med Genet
, vol.14
, pp. 190-193
-
-
Fraser, F.C.1
Gunn, T.2
-
8
-
-
0029886532
-
Parametric and nonparametric linkage analysis: A unified multipoint approach
-
Kruglyak L, Daly MJ, Reeve-Daly MR Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1347-1363
-
-
Kruglyak, L.1
Daly, M.J.2
Reeve-Daly, M.R.3
Lander, E.S.4
-
10
-
-
0028892097
-
A gene for autosomal dominant nonsyndromic Hereditary hearing impairment maps to 4p16.3
-
Lesperance MM, Hall JW III, Bess FH, Fukushima K, Jain PK, Ploplis B, San Agustin TB, Skarka H, Smith RJH, Wills M, Wilcox ER (1995) A gene for autosomal dominant nonsyndromic Hereditary hearing impairment maps to 4p16.3. Hum Mol Genet 4:1967-1972
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1967-1972
-
-
Lesperance, M.M.1
Hall III, J.W.2
Bess, F.H.3
Fukushima, K.4
Jain, P.K.5
Ploplis, B.6
San Agustin, T.B.7
Skarka, H.8
Smith, R.J.H.9
Wills, M.10
Wilcox, E.R.11
-
11
-
-
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. Nat Genet 8: 95-97
-
(1994)
Nat Genet
, vol.8
, pp. 95-97
-
-
Polymeropoulos, M.H.1
Swift, R.G.2
Swift, M.3
-
12
-
-
0027526665
-
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300)
-
Rotig A, Cormier V, Chatelain P, 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
-
-
Rotig, A.1
Cormier, V.2
Chatelain, P.3
Francois, R.4
Saudubray, J.M.5
Rustin, P.6
Munnich, A.7
-
13
-
-
0028987554
-
Isolation of a YAC clone covering a cluster of nine S100 genes on human chromosome 1q21: Rationale for a new nomen-clature of the S100 calcium-binding protein family
-
Schafer BW, Wicki R, Engelkamp D, Mattei MG, Heizmann CW (1995) Isolation of a YAC clone covering a cluster of nine S100 genes on human chromosome 1q21: rationale for a new nomen-clature of the S100 calcium-binding protein family. Genomics 25:638-643
-
(1995)
Genomics
, vol.25
, pp. 638-643
-
-
Schafer, B.W.1
Wicki, R.2
Engelkamp, D.3
Mattei, M.G.4
Heizmann, C.W.5
-
14
-
-
0025081836
-
Psychiatric finings in Wolfram syndrome homozygotes
-
Swift RG, Sadler DB, Swift M (1990) Psychiatric finings 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
-
-
0025735036
-
Psychiatric disorders in 36 families with Wolfram syndrome
-
Swift RG, Perkins DO, Chase CL, Sadler DB, Swift M (1991) Psychiatric disorders in 36 families with Wolfram syndrome. Am J Psychiatry 148:775-779
-
(1991)
Am J Psychiatry
, vol.148
, pp. 775-779
-
-
Swift, R.G.1
Perkins, D.O.2
Chase, C.L.3
Sadler, D.B.4
Swift, M.5
-
17
-
-
0026951329
-
Cloning of alpha-adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification
-
Taylor SAM, Snell RG, Buckler A, Ambrose C, Duyao M, Church D, Lin CS, Altherr M, Bates GP, Groot N, Barnes G, Shaw DJ, Lehrach H, Wasmuth JJ, Harper PS, Housman DE, MacDonald ME, Gusella JF (1992) Cloning of alpha-adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification. Nat Genet 2:223-227
-
(1992)
Nat Genet
, vol.2
, pp. 223-227
-
-
Taylor, S.A.M.1
Snell, R.G.2
Buckler, A.3
Ambrose, C.4
Duyao, M.5
Church, D.6
Lin, C.S.7
Altherr, M.8
Bates, G.P.9
Groot, N.10
Barnes, G.11
Shaw, D.J.12
Lehrach, H.13
Wasmuth, J.J.14
Harper, P.S.15
Housman, D.E.16
MacDonald, M.E.17
Gusella, J.F.18
-
19
-
-
0025992248
-
Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its location to 4p16.3
-
Weber B, Riess O, Hutchinson G, Collins C, Lin B, Kowbel D, Andrew S, Schappert K, Hayden MR (1991) Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its location to 4p16.3. Nucleic Acids Res 19:6263-6268
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 6263-6268
-
-
Weber, B.1
Riess, O.2
Hutchinson, G.3
Collins, C.4
Lin, B.5
Kowbel, D.6
Andrew, S.7
Schappert, K.8
Hayden, M.R.9
-
20
-
-
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 13:715-718
-
(1938)
Mayo Clin Proc
, vol.13
, pp. 715-718
-
-
Wolfram, D.J.1
Wagener, H.P.2
|