-
2
-
-
0026498387
-
Pseudoexfoliative fibrillopathy in visceral organs of a patient with pseudoexfoliation syndrome
-
Streeten BW, Li ZY, Wallace RN, Eagle RC Jr, Keshgegian AA. Pseudoexfoliative fibrillopathy in visceral organs of a patient with pseudoexfoliation syndrome. Arch Ophthalmol 1992; 110:1757-62.
-
(1992)
Arch Ophthalmol
, vol.110
, pp. 1757-1762
-
-
Streeten, B.W.1
Li, Z.Y.2
Wallace, R.N.3
Eagle Jr, R.C.4
Keshgegian, A.A.5
-
3
-
-
0027477485
-
Generalized transluminance of the iris and the frequency of the pseudoexfoliation syndrome in the eyes of transient ischemic attack patients
-
Repo LP, Terasvirta ME, Koivisto KJ. Generalized transluminance of the iris and the frequency of the pseudoexfoliation syndrome in the eyes of transient ischemic attack patients. Ophthalmology 1993; 100:352-5.
-
(1993)
Ophthalmology
, vol.100
, pp. 352-355
-
-
Repo, L.P.1
Terasvirta, M.E.2
Koivisto, K.J.3
-
4
-
-
0030856164
-
Association of pseudoexfoliation syndrome with increased vascular risk
-
Mitchell P, Wang JJ, Smith W. Association of pseudoexfoliation syndrome with increased vascular risk. Am J Ophthalmol 1997; 124:685-7.
-
(1997)
Am J Ophthalmol
, vol.124
, pp. 685-687
-
-
Mitchell, P.1
Wang, J.J.2
Smith, W.3
-
5
-
-
0034979332
-
Pseudoexfoliation syndrome in Icelandic families
-
Allingham RR, Loftsdottir M, Gottfredsdottir MS, Thorgeirsson E, Jonasson F, Sverisson T, Hodge WG, Damji KF, Stefansson E. Pseudoexfoliation syndrome in Icelandic families. Br J Ophthalmol 2001; 85:702-7.
-
(2001)
Br J Ophthalmol
, vol.85
, pp. 702-707
-
-
Allingham, R.R.1
Loftsdottir, M.2
Gottfredsdottir, M.S.3
Thorgeirsson, E.4
Jonasson, F.5
Sverisson, T.6
Hodge, W.G.7
Damji, K.F.8
Stefansson, E.9
-
6
-
-
33746290477
-
Early diagnosis of exfoliation syndrome in the offspring of affected patients
-
Oliveira C, Schlotzer-Schrehardt U, Vieira G, Liebmann J, Ritch R. Early diagnosis of exfoliation syndrome in the offspring of affected patients. Acta Ophthalmol Scand 2006; 84:512-5.
-
(2006)
Acta Ophthalmol Scand
, vol.84
, pp. 512-515
-
-
Oliveira, C.1
Schlotzer-Schrehardt, U.2
Vieira, G.3
Liebmann, J.4
Ritch, R.5
-
7
-
-
0032425790
-
Is pseudoexfoliation syndrome inherited? A review of genetic and nongenetic factors and a new observation
-
Damji KF, Bains HS, Stefansson E, Loftsdottir M, Sverrisson T, Thorgeirsson E, Jonasson F, Gottfredsdottir M, Allingham RR. Is pseudoexfoliation syndrome inherited? A review of genetic and nongenetic factors and a new observation. Ophthalmic Genet 1998; 19:175-85.
-
(1998)
Ophthalmic Genet
, vol.19
, pp. 175-185
-
-
Damji, K.F.1
Bains, H.S.2
Stefansson, E.3
Loftsdottir, M.4
Sverrisson, T.5
Thorgeirsson, E.6
Jonasson, F.7
Gottfredsdottir, M.8
Allingham, R.R.9
-
8
-
-
0032693822
-
Familial occurrence of pseudoexfoliation in Canada
-
Damji KF, Bains HS, Amjadi K, Dohadwala AA, Valberg JD, Chevrier R, Gould LF, Zackon DH, Addison DJ. Familial occurrence of pseudoexfoliation in Canada. Can J Ophthalmol 1999; 34:257-65.
-
(1999)
Can J Ophthalmol
, vol.34
, pp. 257-265
-
-
Damji, K.F.1
Bains, H.S.2
Amjadi, K.3
Dohadwala, A.A.4
Valberg, J.D.5
Chevrier, R.6
Gould, L.F.7
Zackon, D.H.8
Addison, D.J.9
-
9
-
-
33745675536
-
Mitochondrial abnormalities in patients with primary open-angle glaucoma
-
Abu-Amero KK, Morales J, Bosley TM. Mitochondrial abnormalities in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2006; 47:2533-41.
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 2533-2541
-
-
Abu-Amero, K.K.1
Morales, J.2
Bosley, T.M.3
-
10
-
-
0033772264
-
OPA1, encoding A, dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
-
Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B. OPA1, encoding A, dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 2000; 26:211-5.
-
(2000)
Nat Genet
, vol.26
, pp. 211-215
-
-
Alexander, C.1
Votruba, M.2
Pesch, U.E.3
Thiselton, D.L.4
Mayer, S.5
Moore, A.6
Rodriguez, M.7
Kellner, U.8
Leo-Kottler, B.9
Auburger, G.10
Bhattacharya, S.S.11
Wissinger, B.12
-
11
-
-
20244381365
-
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
-
Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E, Astarie-Dequeker C, Lasquellec L, Arnaud B, Ducommun B, Kaplan J, Hamel CP. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 2000; 26:207-10.
-
(2000)
Nat Genet
, vol.26
, pp. 207-210
-
-
Delettre, C.1
Lenaers, G.2
Griffoin, J.M.3
Gigarel, N.4
Lorenzo, C.5
Belenguer, P.6
Pelloquin, L.7
Grosgeorge, J.8
Turc-Carel, C.9
Perret, E.10
Astarie-Dequeker, C.11
Lasquellec, L.12
Arnaud, B.13
Ducommun, B.14
Kaplan, J.15
Hamel, C.P.16
-
12
-
-
0035205389
-
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): Identification of the OPA3 gene and its founder mutation in Iraqi Jews
-
Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet 2001; 69:1218-24.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1218-1224
-
-
Anikster, Y.1
Kleta, R.2
Shaag, A.3
Gahl, W.A.4
Elpeleg, O.5
-
13
-
-
34248212139
-
Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: Predominance of CYP1B1 mutations in Indian patients
-
Kumar A, Basavaraj MG, Gupta SK, Qamar I, Ali AM, Bajaj V, Ramesh TK, Prakash DR, Shetty JS, Dorairaj SK. Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients. Mol Vis 2007; 13:667-76.
-
(2007)
Mol Vis
, vol.13
, pp. 667-676
-
-
Kumar, A.1
Basavaraj, M.G.2
Gupta, S.K.3
Qamar, I.4
Ali, A.M.5
Bajaj, V.6
Ramesh, T.K.7
Prakash, D.R.8
Shetty, J.S.9
Dorairaj, S.K.10
-
14
-
-
0036268633
-
A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy
-
Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M, A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Invest Ophthalmol Vis Sci 2002; 43:1715-24.
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 1715-1724
-
-
Thiselton, D.L.1
Alexander, C.2
Taanman, J.W.3
Brooks, S.4
Rosenberg, T.5
Eiberg, H.6
Andreasson, S.7
Van Regemorter, N.8
Munier, F.L.9
Moore, A.T.10
Bhattacharya, S.S.11
Votruba, M.12
-
15
-
-
32244449268
-
Association of mitochondrial DNA transversion mutations with familial medullary thyroid carcinoma/ multiple endocrine neoplasia type 2 syndrome
-
Abu-Amero KK, Alzahrani AS, Zou M, Shi Y. Association of mitochondrial DNA transversion mutations with familial medullary thyroid carcinoma/ multiple endocrine neoplasia type 2 syndrome. Oncogene 2006; 25:677-84.
-
(2006)
Oncogene
, vol.25
, pp. 677-684
-
-
Abu-Amero, K.K.1
Alzahrani, A.S.2
Zou, M.3
Shi, Y.4
-
16
-
-
0032868141
-
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
-
Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 1999; 23:147.
-
(1999)
Nat Genet
, vol.23
, pp. 147
-
-
Andrews, R.M.1
Kubacka, I.2
Chinnery, P.F.3
Lightowlers, R.N.4
Turnbull, D.M.5
Howell, N.6
-
17
-
-
13444256467
-
MITOMAP: A human mitochondrial genome database - 2004 update
-
Brandon MC, Lott MT, Nguyen KC, Spolim S, Navathe SB, Baldi P, Wallace DC. MITOMAP: a human mitochondrial genome database - 2004 update. Nucleic Acids Res 2005; 33:D611-3.
-
(2005)
Nucleic Acids Res
, vol.33
-
-
Brandon, M.C.1
Lott, M.T.2
Nguyen, K.C.3
Spolim, S.4
Navathe, S.B.5
Baldi, P.6
Wallace, D.C.7
-
18
-
-
33751265102
-
Whatis a 'novel' mtDNA mutation - and does 'novelty' really matter?
-
Bandelt HJ, Salas A, Bravi CM. Whatis a 'novel' mtDNA mutation - and does 'novelty' really matter? J Hum Genet 2006; 51:1073-82.
-
(2006)
J Hum Genet
, vol.51
, pp. 1073-1082
-
-
Bandelt, H.J.1
Salas, A.2
Bravi, C.M.3
-
20
-
-
0035869223
-
Prediction of deleterious human alleles
-
Sunyaev S, Ramensky V, Koch I, Lathe W 3rd, Kondrasbov AS, Bork P. Prediction of deleterious human alleles. Hum Mol Genet 2001; 10:591-7.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe 3rd, W.4
Kondrasbov, A.S.5
Bork, P.6
-
21
-
-
3242806054
-
Sperm mitochondrial DNA depletion in men with asthenospermia
-
Kao SH, Chao HT, Liu HW, Liao TL, Wei YH. Sperm mitochondrial DNA depletion in men with asthenospermia. Fertil Steril 2004; 82:66-73.
-
(2004)
Fertil Steril
, vol.82
, pp. 66-73
-
-
Kao, S.H.1
Chao, H.T.2
Liu, H.W.3
Liao, T.L.4
Wei, Y.H.5
-
22
-
-
23044514580
-
Mitochondrial DNA mutations and mitochondrial DNA depletion in gastric cancer
-
Wu CW, Yin PH, Hung WY, Li AF, Li SH, Chi CW, Wei YH, Lee HC. Mitochondrial DNA mutations and mitochondrial DNA depletion in gastric cancer. Genes Chromosomes Cancer 2005; 44:19-28.
-
(2005)
Genes Chromosomes Cancer
, vol.44
, pp. 19-28
-
-
Wu, C.W.1
Yin, P.H.2
Hung, W.Y.3
Li, A.F.4
Li, S.H.5
Chi, C.W.6
Wei, Y.H.7
Lee, H.C.8
-
23
-
-
0030927245
-
Molecular mechanisms in mitochondrial DNA depletion syndrome
-
Taanman JW, Bodnar AG, Cooper JM, Morris AA, Clayton PT, Leonard JV, Schapira AH. Molecular mechanisms in mitochondrial DNA depletion syndrome. Hum Mol Genet 1997; 6:935-42.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 935-942
-
-
Taanman, J.W.1
Bodnar, A.G.2
Cooper, J.M.3
Morris, A.A.4
Clayton, P.T.5
Leonard, J.V.6
Schapira, A.H.7
-
24
-
-
0036724369
-
Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutation
-
Yen MY, Chen CS, Wang AG, Wei YH. Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutation. Br J Ophthalmol 2002; 96:1027-30.
-
(2002)
Br J Ophthalmol
, vol.96
, pp. 1027-1030
-
-
Yen, M.Y.1
Chen, C.S.2
Wang, A.G.3
Wei, Y.H.4
-
25
-
-
33750593212
-
Mitochondrial abnormalities in patients with LHON-like optic neuropathies
-
Abu-Amero KK, Bosley TM. Mitochondrial abnormalities in patients with LHON-like optic neuropathies. Invest Ophthalmol. Vis Sci 2006; 47:4211-20.
-
(2006)
Invest Ophthalmol. Vis Sci
, vol.47
, pp. 4211-4220
-
-
Abu-Amero, K.K.1
Bosley, T.M.2
-
26
-
-
33745656376
-
Increased relative mitochondrial DNA content in leucocytes of patients with NAION
-
Abu-Amero KK, Bosley TM. Increased relative mitochondrial DNA content in leucocytes of patients with NAION. Br J Ophthalmol 2006; 90:823-5.
-
(2006)
Br J Ophthalmol
, vol.90
, pp. 823-825
-
-
Abu-Amero, K.K.1
Bosley, T.M.2
-
27
-
-
26044459652
-
Detection of mitochondrial respiratory dysfunction in circulating lymphocytes using resazurin
-
Abu-Amero KK, Bosley TM. Detection of mitochondrial respiratory dysfunction in circulating lymphocytes using resazurin. Arch Pathol Lab Med 2005; 129:1295-8.
-
(2005)
Arch Pathol Lab Med
, vol.129
, pp. 1295-1298
-
-
Abu-Amero, K.K.1
Bosley, T.M.2
-
28
-
-
0030981722
-
Impaired mitochondrial function, oxidative stress and altered antioxidant enzyme activities following traumatic spinal cord injury
-
Azbill RD, Mu X, Bruce-Keller AJ, Mattson MP, Springer JE. Impaired mitochondrial function, oxidative stress and altered antioxidant enzyme activities following traumatic spinal cord injury. Brain Res 1997; 765:283-90.
-
(1997)
Brain Res
, vol.765
, pp. 283-290
-
-
Azbill, R.D.1
Mu, X.2
Bruce-Keller, A.J.3
Mattson, M.P.4
Springer, J.E.5
-
29
-
-
0030605279
-
Assessment of neuronal viability with Alamar blue in cortical and granule cell cultures
-
White MJ, DiCaprio MJ, Greenberg DA. Assessment of neuronal viability with Alamar blue in cortical and granule cell cultures. J Neurosci Methods 1996; 70:195-200.
-
(1996)
J Neurosci Methods
, vol.70
, pp. 195-200
-
-
White, M.J.1
DiCaprio, M.J.2
Greenberg, D.A.3
-
31
-
-
24044520785
-
Hereditary optic neuropathies: From the mitochondria to the optic nerve
-
Newman NJ. Hereditary optic neuropathies: from the mitochondria to the optic nerve. Am J Ophthalmol 2005; 140:517-23.
-
(2005)
Am J Ophthalmol
, vol.140
, pp. 517-523
-
-
Newman, N.J.1
-
32
-
-
34548694283
-
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma
-
Thorleifsson G, Magnusson KP, Sulem P, Walters GB, Gudbjartsson DF, Stefansson H, Jonsson T, Jonasdottir A, Jonasdottir A, Stefansdottir G, Masson G, Hardarson GA, Petursson H, Arnarsson A, Motallebipour M, Wallerman O, Wadelius C, Gulcher JR, Thorsteinsdottir U, Kong A, Jonasson F, Stefansson K. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science 2007; 317:1397-400.
-
(2007)
Science
, vol.317
, pp. 1397-1400
-
-
Thorleifsson, G.1
Magnusson, K.P.2
Sulem, P.3
Walters, G.B.4
Gudbjartsson, D.F.5
Stefansson, H.6
Jonsson, T.7
Jonasdottir, A.8
Jonasdottir, A.9
Stefansdottir, G.10
Masson, G.11
Hardarson, G.A.12
Petursson, H.13
Arnarsson, A.14
Motallebipour, M.15
Wallerman, O.16
Wadelius, C.17
Gulcher, J.R.18
Thorsteinsdottir, U.19
Kong, A.20
Jonasson, F.21
Stefansson, K.22
more..
-
33
-
-
5344254604
-
Mitochondrial DNA nucleotide changes in non-arteritic ischemic optic neuropathy
-
Bosley TM, Abu-Amero KK, Ozand PT. Mitochondrial DNA nucleotide changes in non-arteritic ischemic optic neuropathy. Neurology 2004; 63:1305-8.
-
(2004)
Neurology
, vol.63
, pp. 1305-1308
-
-
Bosley, T.M.1
Abu-Amero, K.K.2
Ozand, P.T.3
-
36
-
-
0000342180
-
Primary open angle glaucoma
-
Epstein DL, Allingham RR, Schuman JS, editors, 4th ed. Baltimore: Williams & Wilkins;
-
Epstein DL. Primary open angle glaucoma. In: Epstein DL, Allingham RR, Schuman JS, editors. Chandler and Grant's Glaucoma. 4th ed. Baltimore: Williams & Wilkins; 1997. p. 194-7.
-
(1997)
Chandler and Grant's Glaucoma
, pp. 194-197
-
-
Epstein, D.L.1
|