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Results: 1 to 20 of 111

1.

A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child.

Liu HM, Tsai LP, Chien YH, Wu JF, Weng WC, Peng SF, Wu ET, Huang PH, Lee WT, Tsai IJ, Hwu WL, Lee NC.

Pediatr Neonatol. 2012 Aug;53(4):264-8. doi: 10.1016/j.pedneo.2011.08.013. Epub 2012 Jul 20.

PMID:
22964285
[PubMed - indexed for MEDLINE]
2.

Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA).

Pitchon EM, Cachat F, Jacquemont S, Hinard C, Borruat FX, Schorderet DF, Morris MA, Munier FL.

Klin Monbl Augenheilkd. 2007 Apr;224(4):340-3.

PMID:
17458809
[PubMed - indexed for MEDLINE]
3.

Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy.

Akman CI, Sue CM, Shanske S, Tanji K, Bonilla E, Ojaimi J, Krishna S, Schubert R, DiMauro S.

J Child Neurol. 2004 Apr;19(4):258-61.

PMID:
15163090
[PubMed - indexed for MEDLINE]
4.

Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.

Zupanc ML, Moraes CT, Shanske S, Langman CB, Ciafaloni E, DiMauro S.

Ann Neurol. 1991 Jun;29(6):680-3.

PMID:
1892371
[PubMed - indexed for MEDLINE]
5.

Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.

Sadikovic B, Wang J, El-Hattab A, Landsverk M, Douglas G, Brundage EK, Craigen WJ, Schmitt ES, Wong LJ.

PLoS One. 2010 Dec 20;5(12):e15687. doi: 10.1371/journal.pone.0015687.

PMID:
21187929
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy.

Shoffner JM, Lott MT, Voljavec AS, Soueidan SA, Costigan DA, Wallace DC.

Proc Natl Acad Sci U S A. 1989 Oct;86(20):7952-6.

PMID:
2554297
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.

Yamashita S, Nishino I, Nonaka I, Goto Y.

J Hum Genet. 2008;53(7):598-606. doi: 10.1007/s10038-008-0289-8. Epub 2008 Apr 15.

PMID:
18414780
[PubMed - indexed for MEDLINE]
8.

Kearns-Sayre syndrome. A case report.

Altunbaşak S, Bingöl G, Ozbarlas N, Akçören Z, Hergüner O.

Turk J Pediatr. 1998 Apr-Jun;40(2):255-9.

PMID:
9677732
[PubMed - indexed for MEDLINE]
9.

[Progressive external ophthalmoplegia and the Kearns-Sayre syndrome: a clinical and molecular study of 6 cases].

Barrientos A, Casademont J, Grau JM, Cardellach F, Montoya J, Estivill X, Urbano-Márquez A, Nunes V.

Med Clin (Barc). 1995 Jul 1;105(5):180-4. Spanish.

PMID:
7630231
[PubMed - indexed for MEDLINE]
10.

Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation.

Wong LJ.

Genet Med. 2001 Nov-Dec;3(6):399-404.

PMID:
11715003
[PubMed - indexed for MEDLINE]
11.

Unusual clinical presentation of a patient carrying a novel single 1.8 kb deletion of mitochondrial DNA.

Zoccolella S, Torraco A, Amati A, Lamberti P, Serlenga L, Papa S, Petruzzella V.

Funct Neurol. 2006 Jan-Mar;21(1):39-41.

PMID:
16735000
[PubMed - indexed for MEDLINE]
12.

Familial childhood onset neuropathy and cirrhosis with the 4977bp mitochondrial DNA deletion.

McDonald DG, McMenamin JB, Farrell MA, Droogan O, Green AJ.

Am J Med Genet. 2002 Aug 1;111(2):191-4. Review.

PMID:
12210349
[PubMed - indexed for MEDLINE]
13.

[Chronic progressive external ophthalmoplegia (CPEO); mitochondrial DNA deletion, brain MRI and electrophysiological studies].

Nakagawa M, Tokimura M, Kuriyama M, Higuchi I, Osame M.

Rinsho Shinkeigaku. 1991 Sep;31(9):981-6. Japanese.

PMID:
1769162
[PubMed - indexed for MEDLINE]
14.

A novel mitochondrial DNA deletion in a Chinese girl with Kearns-Sayre syndrome.

Yau EK, Chan KY, Au KM, Chow TC, Chan YW.

Hong Kong Med J. 2009 Oct;15(5):374-7.

PMID:
19801695
[PubMed - indexed for MEDLINE]
Free Article
15.

Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome.

Niaudet P, Heidet L, Munnich A, Schmitz J, Bouissou F, Gubler MC, Rötig A.

Pediatr Nephrol. 1994 Apr;8(2):164-8.

PMID:
8018492
[PubMed - indexed for MEDLINE]
16.

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

Pastores GM, Santorelli FM, Shanske S, Gelb BD, Fyfe B, Wolfe D, Willner JP.

Am J Med Genet. 1994 Apr 15;50(3):265-71. Review.

PMID:
8042671
[PubMed - indexed for MEDLINE]
17.

[Molecular biology of mitochondrial DNA and mutations in mitochondrial cytopathy].

Ito T.

Nihon Rinsho. 1993 Jun;51(6):1425-8. Review. Japanese.

PMID:
8320824
[PubMed - indexed for MEDLINE]
18.

Chronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient.

Liu CH, Liou CW, Liu CH, Kuo HC, Chu CC, Huang CC.

Acta Neurol Taiwan. 2011 Mar;20(1):53-8.

PMID:
21249588
[PubMed - indexed for MEDLINE]
Free Article
19.

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
[PubMed - indexed for MEDLINE]
20.

Risk of developing a mitochondrial DNA deletion disorder.

Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM.

Lancet. 2004 Aug 14-20;364(9434):592-6.

PMID:
15313359
[PubMed - indexed for MEDLINE]
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