-
1
-
-
0026906885
-
Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
-
Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genet 1992;1:368-71.
-
(1992)
Nature Genet
, vol.1
, pp. 368-371
-
-
van den Ouweland, J.M.1
Lemkes, H.H.2
Ruitenbeek, W.3
-
2
-
-
0026462744
-
Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
-
Reardon W, Ross RJM, Sweeney MG, et al. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 1992;340:1376-9.
-
(1992)
Lancet
, vol.340
, pp. 1376-1379
-
-
Reardon, W.1
Ross, R.J.M.2
Sweeney, M.G.3
-
3
-
-
0025534162
-
A point mutation in the mitochondrial tRNA(Leu)(UUR0 gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)
-
Kobayashi Y, Momoi MY, Tominaga K, et al. A point mutation in the mitochondrial tRNA(Leu)(UUR0 gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 1990;173:816-22.
-
(1990)
Biochem Biophys Res Commun
, vol.173
, pp. 816-822
-
-
Kobayashi, Y.1
Momoi, M.Y.2
Tominaga, K.3
-
4
-
-
0025666322
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348:651-3.
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
5
-
-
0029161867
-
Leu gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness
-
Leu gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness. J Med Genet 1985;32:654-6.
-
(1985)
J Med Genet
, vol.32
, pp. 654-656
-
-
Manouvrier, S.1
Rötig, A.2
Hannebique, G.3
-
7
-
-
0030791665
-
Molecular pathology of MELAS and MERRF The relationship between mutation load and clinical phenotypes
-
Chinnery PF, Howell N, Lightowlers RN, et al. Molecular pathology of MELAS and MERRF The relationship between mutation load and clinical phenotypes. Brain 1997;120:1713-21.
-
(1997)
Brain
, vol.120
, pp. 1713-1721
-
-
Chinnery, P.F.1
Howell, N.2
Lightowlers, R.N.3
-
8
-
-
0029077496
-
The mitochondrial DNA transfer RNALeu(UUR) A→G(3243) mutation. A clinical and genetic study
-
Hammans SR, Sweeney MG, Hanna MG, et al. The mitochondrial DNA transfer RNALeu(UUR) A→G(3243) mutation. A clinical and genetic study. Brain 1995;118:721-34.
-
(1995)
Brain
, vol.118
, pp. 721-734
-
-
Hammans, S.R.1
Sweeney, M.G.2
Hanna, M.G.3
-
9
-
-
0032965396
-
Mitochondrial DNA analysis: Polymorphisms and pathogenicity
-
Chinnery PF, Howell N, Andrews RM, et al. Mitochondrial DNA analysis: polymorphisms and pathogenicity. J Med Genet 1999;36:505-10.
-
(1999)
J Med Genet
, vol.36
, pp. 505-510
-
-
Chinnery, P.F.1
Howell, N.2
Andrews, R.M.3
-
10
-
-
0022344135
-
The retinal manifestations of mitochondrial myopathy
-
Mullie MA, Harding AE, Petty RKH, et al. The retinal manifestations of mitochondrial myopathy. Ach Ophthalmol 1985;103:1825-30.
-
(1985)
Ach Ophthalmol
, vol.103
, pp. 1825-1830
-
-
Mullie, M.A.1
Harding, A.E.2
Petty, R.K.H.3
-
11
-
-
0029129204
-
Macular pattern dystrophy associated with a mutation of mitochondrial DNA
-
Massin P, Guillausseau P, Bialettes B, et al. Macular pattern dystrophy associated with a mutation of mitochondrial DNA. Am J Ophthalmol 1995;120:247-8.
-
(1995)
Am J Ophthalmol
, vol.120
, pp. 247-248
-
-
Massin, P.1
Guillausseau, P.2
Bialettes, B.3
-
12
-
-
12944272137
-
Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness
-
Massin P, Virally-Monod M, Bialettes B, et al. Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. Ophthalmology 1999;106:1821-7.
-
(1999)
Ophthalmology
, vol.106
, pp. 1821-1827
-
-
Massin, P.1
Virally-Monod, M.2
Bialettes, B.3
-
14
-
-
0030837435
-
Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: A family study of A3243G mitochondrial heteroplasmy
-
Harrison TJ, Boles RG, Johnson DR, et al. Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: A family study of A3243G mitochondrial heteroplasmy. Am J Ophthalmol 1997;124:217-21.
-
(1997)
Am J Ophthalmol
, vol.124
, pp. 217-221
-
-
Harrison, T.J.1
Boles, R.G.2
Johnson, D.R.3
-
15
-
-
0030967074
-
Macular pattern dystrophy in patients with deafness and diabetes
-
Bonte CA, Matthijs GL, Cassiman JJ, et al. Macular pattern dystrophy in patients with deafness and diabetes. Retina 1997;17:216-21.
-
(1997)
Retina
, vol.17
, pp. 216-221
-
-
Bonte, C.A.1
Matthijs, G.L.2
Cassiman, J.J.3
-
16
-
-
0032842489
-
Mitochondrial DNA disease masquerading as age-related macular degeneration
-
Andrews RM, McNeela BJ, Reading P, et al. Mitochondrial DNA disease masquerading as age-related macular degeneration. Eye 1999;13:595-6.
-
(1999)
Eye
, vol.13
, pp. 595-596
-
-
Andrews, R.M.1
McNeela, B.J.2
Reading, P.3
-
17
-
-
0032976653
-
Mitochondrial maculopathy: Geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation
-
Latkany P, Ciulla TA, Cucchillo P, et al. Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation. Am J Ophthalmol 1999;128:112-14.
-
(1999)
Am J Ophthalmol
, vol.128
, pp. 112-114
-
-
Latkany, P.1
Ciulla, T.A.2
Cucchillo, P.3
-
19
-
-
0030610180
-
In vivo fundus autofluorescence in macular dystrophies
-
von Rückmann A, Fitzke FW, Bird AC. In vivo fundus autofluorescence in macular dystrophies. Ach Ophthalmol 1997;115:609-15.
-
(1997)
Ach Ophthalmol
, vol.115
, pp. 609-615
-
-
von Rückmann, A.1
Fitzke, F.W.2
Bird, A.C.3
-
20
-
-
0033026846
-
Patterns of increased in vivo fundus autofluorescence in the junctional zone of geographic atrophy of the retinal pigment epithelium associated with age-related macular degeneration
-
Holz FG, Bellmann C, Margaritidis M, et al. Patterns of increased in vivo fundus autofluorescence in the junctional zone of geographic atrophy of the retinal pigment epithelium associated with age-related macular degeneration. Graefes Ach Clin Exp Ophthalmol 1999;237:145-52.
-
(1999)
Graefes Ach Clin Exp Ophthalmol
, vol.237
, pp. 145-152
-
-
Holz, F.G.1
Bellmann, C.2
Margaritidis, M.3
-
21
-
-
0033386160
-
Clinical features of codon 172 RDS macular dystrophy. Similar phenotype in 12 families
-
Downes SM, Fitzke FW, Holder GE, et al. Clinical features of codon 172 RDS macular dystrophy. Similar phenotype in 12 families. Ach Ophthalmol 1999;117:1373-83.
-
(1999)
Ach Ophthalmol
, vol.117
, pp. 1373-1383
-
-
Downes, S.M.1
Fitzke, F.W.2
Holder, G.E.3
-
22
-
-
0035139508
-
Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1
-
Downes SM, Holder GE, Fitzke FW, et al. Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. Ach Ophthalmol 2001;119:96-105.
-
(2001)
Ach Ophthalmol
, vol.119
, pp. 96-105
-
-
Downes, S.M.1
Holder, G.E.2
Fitzke, F.W.3
-
23
-
-
0035092144
-
Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus
-
Lois N, Holder GE, Bunce C, et al. Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. Ach Ophthalmol 2001;119:359-69.
-
(2001)
Ach Ophthalmol
, vol.119
, pp. 359-369
-
-
Lois, N.1
Holder, G.E.2
Bunce, C.3
-
24
-
-
0036252461
-
Symmetry of bilateral lesions in geographic atrophy in patients with age-related macular degeneration
-
Bellmann C, Jorzik J, Spital G, et al. Symmetry of bilateral lesions in geographic atrophy in patients with age-related macular degeneration. Arch Ophthalmol 2002;120:579-84.
-
(2002)
Arch Ophthalmol
, vol.120
, pp. 579-584
-
-
Bellmann, C.1
Jorzik, J.2
Spital, G.3
-
25
-
-
0036246615
-
Clinical variations in assessment of bull's-eye maculopathy
-
Kurz-Levin MM, Halfyard AS, Bunce C, et al. Clinical variations in assessment of bull's-eye maculopathy. Ach Ophthalmol 2002;120:567-75.
-
(2002)
Ach Ophthalmol
, vol.120
, pp. 567-575
-
-
Kurz-Levin, M.M.1
Halfyard, A.S.2
Bunce, C.3
-
26
-
-
0025905698
-
Mitochondrial encephalopathies: Molecular genetic diagnosis from blood samples
-
Hammans SR, Sweeney MG, Brockington M, et al. Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples. Lancet 1991;337:1311-13.
-
(1991)
Lancet
, vol.337
, pp. 1311-1313
-
-
Hammans, S.R.1
Sweeney, M.G.2
Brockington, M.3
-
27
-
-
0029022639
-
Distribution of fundus autofluorescence with a scanning laser ophthalmoscope
-
von Rückmann A, Fitzke FW, Bird AC. Distribution of fundus autofluorescence with a scanning laser ophthalmoscope. Br J Ophthalmol 1995;79:407-12.
-
(1995)
Br J Ophthalmol
, vol.79
, pp. 407-412
-
-
von Rückmann, A.1
Fitzke, F.W.2
Bird, A.C.3
-
28
-
-
0012431804
-
Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus
-
Expert Committee on the Diagnosis and Classification of Diabetes Mellitus
-
Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Diabetes Care 2003;26:5-20S.
-
(2003)
Diabetes Care
, vol.26
-
-
-
29
-
-
0035341093
-
Maternally inherited diabetes and deafness: A multicenter Study
-
Guillausseau P, Massin P, Dubois-LaForgue D, et al. Maternally inherited diabetes and deafness: A multicenter Study. Ann Int Med 2001;134:721-8.
-
(2001)
Ann Int Med
, vol.134
, pp. 721-728
-
-
Guillausseau, P.1
Massin, P.2
Dubois-LaForgue, D.3
-
30
-
-
0027369567
-
Prevalence of mitochondrial gene mutations in families with diabetes mellitus
-
Vionnet N, Passa P, Froguel P. Prevalence of mitochondrial gene mutations in families with diabetes mellitus. Lancet 1993;342: 1429-30.
-
(1993)
Lancet
, vol.342
, pp. 1429-1430
-
-
Vionnet, N.1
Passa, P.2
Froguel, P.3
-
31
-
-
0030872101
-
Maternally inherited diabetes and deafness: Prevalence in a hospital diabetic population
-
Newkirk JE, Taylor RW, Howell N, et al. Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population. Diabetic Med 1997;14:457-60.
-
(1997)
Diabetic Med
, vol.14
, pp. 457-460
-
-
Newkirk, J.E.1
Taylor, R.W.2
Howell, N.3
-
32
-
-
0028328317
-
A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA
-
Kadowaki T, Kadowaki H, Mori Y, et al. A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. NEJM 1994;330:962-8.
-
(1994)
NEJM
, vol.330
, pp. 962-968
-
-
Kadowaki, T.1
Kadowaki, H.2
Mori, Y.3
-
34
-
-
0031024114
-
Leu(UUR)) mutation at position 3243bp in UK caucasian type 2 diabetic patients
-
Leu(UUR)) mutation at position 3243bp in UK caucasian type 2 diabetic patients. Diabetic Med 1997;14:42-5.
-
(1997)
Diabetic Med
, vol.14
, pp. 42-45
-
-
Saker, P.J.1
Hattersley, A.T.2
Barrow, B.3
-
35
-
-
0027996170
-
Prevalence of maternally inherited diabetes and deafness in diabetic populations in the Netherlands
-
t'Hart LM, Lemkes HHPJ, Heine RJ, et al. Prevalence of maternally inherited diabetes and deafness in diabetic populations in the Netherlands. Diabetologia 1994;37:1169-70.
-
(1994)
Diabetologia
, vol.37
, pp. 1169-1170
-
-
t'Hart, L.M.1
Lemkes, H.H.P.J.2
Heine, R.J.3
-
36
-
-
0032776428
-
Prevalence of maternally inherited diabetes and deafness in Australian diabetic subjects
-
Holmes-Walker DJ, Boyages SC. Prevalence of maternally inherited diabetes and deafness in Australian diabetic subjects. Diabetologia 1999;42:1028-32.
-
(1999)
Diabetologia
, vol.42
, pp. 1028-1032
-
-
Holmes-Walker, D.J.1
Boyages, S.C.2
-
37
-
-
0027968580
-
The high prevalence of the diabetic patients with a mutation in the mitochondrial gene in Japan
-
Otabe S, Sakura H, Shimokawa K, et al. The high prevalence of the diabetic patients with a mutation in the mitochondrial gene in Japan. J Clin Endocrinol Metab 1994;79:768-71.
-
(1994)
J Clin Endocrinol Metab
, vol.79
, pp. 768-771
-
-
Otabe, S.1
Sakura, H.2
Shimokawa, K.3
-
38
-
-
0032857518
-
High frequency of mutation in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes
-
Lehto M, Wiperno C, Ivarsson S-A, et al. High frequency of mutation in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes. Diabetologia 1999;42:1131-7.
-
(1999)
Diabetologia
, vol.42
, pp. 1131-1137
-
-
Lehto, M.1
Wiperno, C.2
Ivarsson, S.-A.3
-
39
-
-
0029029469
-
Mitochondrial DNA (mtDNA) diseases: Correlation of genotype to phenotype
-
Morgan-Hughes JA, Sweeney MG, Cooper JM, et al. Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. Biochim Biophys Acta 1995;1271:135-40.
-
(1995)
Biochim Biophys Acta
, vol.1271
, pp. 135-140
-
-
Morgan-Hughes, J.A.1
Sweeney, M.G.2
Cooper, J.M.3
-
40
-
-
0032588047
-
Mitochondrial 3243 A G mutation (MELAS mutation) associated with painful muscle stiffness
-
Deschauer M, Wieser T, Neudecker S, et al. Mitochondrial 3243 A G mutation (MELAS mutation) associated with painful muscle stiffness. Neuromusc Disord 1999;9:305-7.
-
(1999)
Neuromusc Disord
, vol.9
, pp. 305-307
-
-
Deschauer, M.1
Wieser, T.2
Neudecker, S.3
-
41
-
-
0036582612
-
Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations
-
Chinnery PF, Brown DT, Archibald K, et al. Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations. J Med Genet 2002;39:e22.
-
(2002)
J Med Genet
, vol.39
-
-
Chinnery, P.F.1
Brown, D.T.2
Archibald, K.3
|