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Items: 1 to 20 of 108

1.

Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her child.

Larsson NG, Eiken HG, Boman H, Holme E, Oldfors A, Tulinius MH.

Am J Hum Genet. 1992 Feb;50(2):360-3.

2.

Detection of platelet mitochondrial DNA deletions in Kearns-Sayre syndrome.

Ota Y, Tanaka M, Sato W, Ohno K, Yamamoto T, Maehara M, Negoro T, Watanabe K, Awaya S, Ozawa T.

Invest Ophthalmol Vis Sci. 1991 Sep;32(10):2667-75. Erratum in: Invest Ophthalmol Vis Sci 1995 Jan;36(1):3.

PMID:
1894466
3.

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome.

Larsson NG, Holme E, Kristiansson B, Oldfors A, Tulinius M.

Pediatr Res. 1990 Aug;28(2):131-6.

PMID:
2395603
4.

A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6 years of follow-up.

Mohri I, Taniike M, Fujimura H, Matsuoka T, Inui K, Nagai T, Okada S.

J Neurol Sci. 1998 Jun 11;158(1):106-9. Review.

PMID:
9667787
5.

[PCR-based detection of heteroplasmic deleted mitochondrial DNA in Kearns-Sayre syndrome].

Ramírez-Miranda A, Navas-Pérez A, Gurria-Quintana L, Vargas-Ortega J, Murillo-Correa C, Zenteno JC.

Arch Soc Esp Oftalmol. 2008 Mar;83(3):155-9. Spanish.

6.

Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome.

Shanske S, Moraes CT, Lombes A, Miranda AF, Bonilla E, Lewis P, Whelan MA, Ellsworth CA, DiMauro S.

Neurology. 1990 Jan;40(1):24-8.

PMID:
2296377
7.

Accumulation of mitochondrial DNA deletions in myotubes cultured from muscles of patients with mitochondrial myopathies.

Collombet JM, Mandon G, Dumoulin R, Mousson B, Stepien G.

Mol Gen Genet. 1996 Nov 27;253(1-2):182-8.

PMID:
9003302
8.

A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome.

Lertrit P, Imsumran A, Karnkirawattana P, Devahasdin V, Sangruchi T, Atchaneeyasakul L, Mungkornkarn C, Neungton N.

Hum Genet. 1999 Jul-Aug;105(1-2):127-31.

PMID:
10480366
9.

[Mitochondrial DNA mutations in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome].

Wang ZX, Yuan Y, Gao F, Qi Y, Shen DG, Chen QT.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Aug;20(4):273-8. Chinese.

PMID:
12903032
10.

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

McShane MA, Hammans SR, Sweeney M, Holt IJ, Beattie TJ, Brett EM, Harding AE.

Am J Hum Genet. 1991 Jan;48(1):39-42.

11.

Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations.

Nelson I, Bonne G, Degoul F, Marsac C, Ponsot G, Lestienne P.

Neuropediatrics. 1992 Aug;23(4):199-205.

PMID:
1407387
12.

MELAS- and Kearns-Sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathy.

Ohno K, Yamamoto M, Engel AG, Harper CM, Roberts LR, Tan GH, Fatourechi V.

Ann Neurol. 1996 Jun;39(6):761-6. Erratum in: Ann Neurol 1996 Sep;40(3):480.

PMID:
8651648
13.

[Retinitis pigmentosa in Kearns-Sayre syndrome resulting from mutation of mitochondrial DNA "de novo"].

Midro AT, Zalewska R, Skrzypczak-Adamiak G, Wilichowski E.

Klin Oczna. 1995 Jun;97(6):203-6. Polish.

PMID:
7643565
14.

Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation.

Barthélémy C, Ogier de Baulny H, Diaz J, Cheval MA, Frachon P, Romero N, Goutieres F, Fardeau M, Lombès A.

Ann Neurol. 2001 May;49(5):607-17.

PMID:
11357951
15.

Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study.

Brockington M, Alsanjari N, Sweeney MG, Morgan-Hughes JA, Scaravilli F, Harding AE.

J Neurol Sci. 1995 Jul;131(1):78-87.

PMID:
7561952
16.

Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR.

Kleinle S, Wiesmann U, Superti-Furga A, Krähenbühl S, Boltshauser E, Reichen J, Liechti-Gallati S.

Hum Genet. 1997 Oct;100(5-6):643-50.

PMID:
9341886
17.

Detection of deleted mitochondrial DNA in Kearns-Sayre syndrome using laser capture microdissection.

Pistilli D, di Gioia CR, D'Amati G, Sciacchitano S, Quaglione R, Quitadamo R, Casali C, Gallo P, Santorelli FM.

Hum Pathol. 2003 Oct;34(10):1058-61.

PMID:
14608542
18.

Mitochondrial genome analysis in Kearns-Sayre syndrome.

Lertrit P, Atchaneeyasakul L, Devahastin V, Saechan V, Sangruchi T, Neungton N, Lekhakula S.

Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:162-5.

PMID:
8629098
19.

High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart.

Fromenty B, Carrozzo R, Shanske S, Schon EA.

Am J Med Genet. 1997 Sep 5;71(4):443-52.

PMID:
9286453
20.

Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome.

Moraes CT, Schon EA, DiMauro S, Miranda AF.

Biochem Biophys Res Commun. 1989 Apr 28;160(2):765-71.

PMID:
2541710

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