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American Journal of Medical Genetics

Volumn 98, Issue 3, 2001, Pages 205-209

Clinical implications of duplicated mtDNA in Pearson syndrome

(5) Muraki, Kae a Sakura, Nobuo b Ueda, Haruo b Kihara, Hirotaka b Goto, Yu Ichi b

a NATIONAL INSTITUTE OF NEUROSCIENCE (Japan)

b HIROSHIMA UNIV SCHOOL OF MEDICINE (Japan)

Author keywords

Duplication; Kearns Sayre syndrome; MtDNA; Pearson syndrome

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; AUTOPSY; BIOPSY; CASE REPORT; CELL VACUOLE; CLINICAL FEATURE; DUPLICATE GENE; GENE DELETION; HEMATOPOIETIC STEM CELL; HUMAN; KEARNS SAYRE SYNDROME; MALE; PANCREAS INSUFFICIENCY; PEARSON SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REFRACTORY ANEMIA; SCHOOL CHILD; SOUTHERN BLOTTING;

BLOTTING, SOUTHERN; BONE MARROW DISEASES; CHILD; DNA; DNA, MITOCHONDRIAL; FATAL OUTCOME; GENE DELETION; GENE DUPLICATION; HUMANS; MALE; PANCREATIC DISEASES; SYNDROME;

EID: 0035931461 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/1096-8628(20010122)98:3<205::AID-AJMG1077>3.0.CO;2-P Document Type: Article

Times cited : (20)

References (22)

1
- 0026849690
- Maternally transmitted diabetes and deafness associated with a 10.5 kB deletion
- (1992) Nat Genet , vol.1 , pp. 11-15
- Ballinger, S.W.¹ Shoffner, J.M.² Hedaya, E.V.³ Tounce, I.⁴ Polak, M.A.⁵ Koontz, D.A.⁶ Wallace, D.C.⁷

2
- 0027935776
- Mitochondrial diabetes revisited
- (1994) Nat Genet , vol.7 , pp. 458-459
- Ballinger, S.W.¹ Shoffner, J.M.² Gebhart, S.³ Schoffner, J.M.⁴ Gebhart, S.⁵ Koontz, D.A.⁶ Wallace, D.C.⁷

3
- 0029059965
- Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: A molecular genetic and pathological study
- (1995) J Neurol Sci , vol.131 , pp. 78-87
- Brockington, M.¹ Alsanjari, N.² Sweeney, M.G.³ Morgan-Hughes, J.A.⁴ Scaravili, F.⁵ Harding, A.E.⁶

4
- 0029059278
- Rearranged mitochondrial genomes are present in human oocytes
- (1995) Am J Hum Genet , vol.57 , pp. 239-247
- Chen, X.¹ Prosser, R.² Simonetti, S.³ Sadlock, J.⁴ Jafiello, G.⁵ Schon, E.A.⁶

5
- 0025196010
- Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome
- (1990) J Pediatr , vol.117 , pp. 599-602
- Cormier, V.¹ Rötig, A.² Quartopno, A.R.³ Forni, G.L.⁴ Cerone, R.⁵ Maier, M.⁶ Saudubray, J.-M.⁷ Munnich, A.⁸

6
- 0027381483
- Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus
- (1993) Hum Mol Genet , vol.2 , pp. 1619-1624
- Dunbar, D.R.¹ Moonie, P.A.² Swingler, R.J.³ Davidson, D.⁴ Roberts, R.⁵ Holt, I.J.⁶

7
- 0023883150
- Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
- (1988) Nature , vol.331 , pp. 717-719
- Holt, I.J.¹ Harding, E.² Morgan-Hughes, A.³

8
- 0030811485
- Behavior of a population of partially duplicated mitochondrial DNA molecules in cell culture: Segregation, maintenance and recombination dependent on nuclear background
- (1997) Hum Mol Genet , vol.6 , pp. 1251-1260
- Holt, I.J.¹ Hunbar, D.R.² Jacobs, H.T.³

9
- 0025968682
- Pearson syndrome and mitochondrial encephalopathy in a patient with a deletion of mtDNA
- (1991) Am J Hum Genet , vol.48 , pp. 39-42
- McShane, M.A.¹ Hammans, S.R.² Sweeny, M.³ Holt, H.J.⁴ Beattie, T.J.⁵ Bett, E.M.⁶ Hardig, A.E.⁷

10
- 0032231467
- Evidence from human oocytes for a genetic bottleneck in an mtDNA disease
- (1998) Am J Hum Genet , vol.63 , pp. 769-775
- Marchington, D.R.¹ Macaulay, V.² Hartshorne, G.M.³ Barlow, D.⁴ Poulton, J.⁵

11
- 0024328462
- Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
- (1989) N 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.F.⁶ Nakase, H.⁷ Bonilla, E.⁸ Werneck, L.C.⁹ Servidei, S.¹⁰ Nonaka, I.¹¹ Koga, Y.¹² Spiro, A.J.¹³ Brownell, K.W.¹⁴ Schmidt, B.¹⁵ Schotland, D.L.¹⁶ Zupanc, M.¹⁷ DeVivo, D.C.¹⁸ Schon, E.A.¹⁹ Rowland, L.P.²⁰ more..

12
- 0031048505
- Severe lactic acidosis and neonatal death in Pearson syndrome
- (1997) J Inher Metab Dis , vol.20 , pp. 43-48
- Muraki, K.¹ Goto, Y.² Nishino, I.³ Hayashidani, M.⁴ Takauchi, S.⁵ Horai, S.⁶ Sakura, N.⁷ Ueda, K.⁸

13
- 0030800458
- The association between haematological manifestation and mtDNA deletions in Pearson syndrome
- (1997) J Inher Metab Dis , vol.20 , pp. 697-703
- Muraki, K.¹ Nishimura, S.² Goto, Y.³ Sakura, N.⁴ Ueda, K.⁵

14
- 0018712317
- A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction
- (1979) J Pediatr , vol.95 , pp. 976-984
- Pearson, H.A.¹ Lobel, J.S.² Kocoshis, S.A.³

15
- 0024499802
- Duplications of mitochondrial DNA in mitochondrial myopathy
- (1989) Lancet , vol.1 , pp. 236-240
- Poulton, J.¹ Deadman, M.E.² Gardiner, R.M.³

16
- 0027403570
- Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: Duplications may be a transient intermediate form
- (1993) Hum Mol Genet , vol.2 , pp. 23-30
- Poulton, J.¹ Deadman, M.E.² Bindoff, L.³ Morton, K.⁴ Land, J.⁵ Brown, G.⁶

17
- 0028286575
- Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?
- (1994) Hum Mol Genet , vol.6 , pp. 947-951
- Poulton, J.¹ Morton, K.J.² Weber, K.³ Brown, G.K.⁴ Bindoff, L.⁵

18
- 0024590185
- Mitochondrial DNA deletion in Pearson marrow-pancreas syndrome
- (1989) Lancet , vol.1 , pp. 902-903
- Rötig, A.¹ Colonna, M.² Bonnefont, J.P.³ Blanche, S.⁴ Trischer, A.⁵ Saudubray, J.M.⁶ Munnich, A.⁷

19
- 0026180131
- Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome
- (1991) Genomics , vol.10 , pp. 502-504
- Rötig, A.¹ Cormier, V.² Koll, F.³ Mize, C.E.⁴ Saudubray, J.M.⁵ Veerman, A.⁶ Pearson, H.A.⁷ Munnich, A.⁸

20
- 0026569283
- Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia
- (1992) Am J Hum Genet , vol.50 , pp. 364-370
- Rötig, A.¹ Bessis, J.L.² Romero, N.³ Cormier, V.⁴ Saudubray, J.M.⁵ Narcy, P.⁶ Lenoir, G.⁷ Rustin, P.⁸ Munnich, A.⁹

21
- 0029147133
- Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome
- (1995) Hum Mol Genet , vol.4 , pp. 1327-1330
- Rötig, A.¹ Bourgeron, T.² Chretien, D.³ Rustin, P.⁴ Munnich, A.⁵

22
- 0027158067
- Molecular and genetic analysis of two patients with Pearson's marrow-pancreas syndrome
- (1993) Pediatr Res , vol.34 , pp. 105-110
- Sano, T.¹ Ban, K.² Ichiki, T.³ Kobayashi, M.⁴ Tanaka, M.⁵ Ohno, K.⁶ Ozawa, T.⁷

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.