-
1
-
-
0023883150
-
Deletions of mitochondrial DNA in patients with mitochondrial myopathies
-
Holt I.J., Harding A.E., Morgan-Hughes J.A. Deletions of mitochondrial DNA in patients with mitochondrial myopathies. Nature. 331:1988;717-719.
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
2
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Moraes C.T., DiMauro S., Zeviani M., Lombes A., Shanske S., Miranda A., et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. New Engl J Med. 320:1989;1293-1299.
-
(1989)
New Engl J Med
, vol.320
, pp. 1293-1299
-
-
Moraes, C.T.1
Dimauro, S.2
Zeviani, M.3
Lombes, A.4
Shanske, S.5
Miranda, A.6
-
3
-
-
0030577222
-
Maternal inheritance and evaluation of oxidative phosphorylation diseases
-
Shoffner J.M. Maternal inheritance and evaluation of oxidative phosphorylation diseases. Lancet. 348:1996;1283-1288.
-
(1996)
Lancet
, vol.348
, pp. 1283-1288
-
-
Shoffner, J.M.1
-
4
-
-
0024590185
-
Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome
-
Rotig A., Colonna M., Bonnefont J.P., Blanche S., Fischer A., Saudubray J.M., et al. Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet. I:1989;902-903.
-
(1989)
Lancet
, vol.1
, pp. 902-903
-
-
Rotig, A.1
Colonna, M.2
Bonnefont, J.P.3
Blanche, S.4
Fischer, A.5
Saudubray, J.M.6
-
5
-
-
0018712317
-
A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine dysfunction
-
Pearson H.A., Lobel J.S., Kocoshis S.A., Naiman J.L., Windmiller J., Lammi A.T., et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine dysfunction. J Pediatr. 95:1979;976-984.
-
(1979)
J Pediatr
, vol.95
, pp. 976-984
-
-
Pearson, H.A.1
Lobel, J.S.2
Kocoshis, S.A.3
Naiman, J.L.4
Windmiller, J.5
Lammi, A.T.6
-
6
-
-
0026041854
-
-
Majander A., Suomalainen A., Vettenranta K., Sariola H., Perkkio M., Holmberg C., et al. Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion, Pediatr Res. 30:1991;327-330.
-
(1991)
Congenital Hypoplastic Anemia, Diabetes, and Severe Renal Tubular Dysfunction Associated with a Mitochondrial DNa Deletion, Pediatr Res
, vol.30
, pp. 327-330
-
-
Majander, A.1
Suomalainen, A.2
Vettenranta, K.3
Sariola, H.4
Perkkio, M.5
Holmberg, C.6
-
7
-
-
0025968682
-
Pearson syndrome and mitocondrial encephalomyopathy in a patient with a deletion of mtDNA
-
McShane M.A., Hammans S.R., Sweeney M., Holt I.J., Beattie T.J., Brett E.M., et al. Pearson syndrome and mitocondrial encephalomyopathy in a patient with a deletion of mtDNA. Am J Hum Genet. 48:1991;39-42.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 39-42
-
-
McShane, M.A.1
Hammans, S.R.2
Sweeney, M.3
Holt, I.J.4
Beattie, T.J.5
Brett, E.M.6
-
8
-
-
0026989168
-
Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion
-
Simonsz H.J., Barlocher K., Rötig A. Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion. Documen Ophthalmol. 82:1992;73-79.
-
(1992)
Documen Ophthalmol
, vol.82
, pp. 73-79
-
-
Simonsz, H.J.1
Barlocher, K.2
Rötig, A.3
-
9
-
-
0030800458
-
The association between hematological manifestation and mtDNA deletions in Pearson syndrome
-
Muraki K., Nishimura S., Goto Y., Nonaka I., Sakura N., Ueda K. The association between hematological manifestation and mtDNA deletions in Pearson syndrome. J Inherit Metab Dis. 20:1997;697-703.
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 697-703
-
-
Muraki, K.1
Nishimura, S.2
Goto, Y.3
Nonaka, I.4
Sakura, N.5
Ueda, K.6
-
10
-
-
0027497228
-
Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome
-
Bernes S.M., Bacino C., Prezant T.R., Pearson M.A., Wood T.S., Fournier P., et al. Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome. J Pediatr. 123:1993;598-602.
-
(1993)
J Pediatr
, vol.123
, pp. 598-602
-
-
Bernes, S.M.1
Bacino, C.2
Prezant, T.R.3
Pearson, M.A.4
Wood, T.S.5
Fournier, P.6
-
11
-
-
0025961538
-
Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: Noninvasive diagnosis of mitochondrial myopathy
-
Poulton J., Deadman M.E., Turnbull D.M., Lake B., Gardiner R.M. Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: noninvasive diagnosis of mitochondrial myopathy. Clin Genet. 39:1991;33-38.
-
(1991)
Clin Genet
, vol.39
, pp. 33-38
-
-
Poulton, J.1
Deadman, M.E.2
Turnbull, D.M.3
Lake, B.4
Gardiner, R.M.5
-
12
-
-
0026546414
-
Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome
-
Fischel-Ghodsian N., Bohlman M.C., Prezant T.R., Graham J.M., Cederbaum S.D., Edwards N.J. Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome. Pediatr Res. 31:1992;557-560.
-
(1992)
Pediatr Res
, vol.31
, pp. 557-560
-
-
Fischel-Ghodsian, N.1
Bohlman, M.C.2
Prezant, T.R.3
Graham, J.M.4
Cederbaum, S.D.5
Edwards, N.J.6
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