255 related articles for article (PubMed ID: 17545557)
1. Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome.
Steffann J; Gigarel N; Corcos J; Bonnière M; Encha-Razavi F; Sinico M; Prevot S; Dumez Y; Yamgnane A; Frydman R; Munnich A; Bonnefont JP
J Med Genet; 2007 Oct; 44(10):664-9. PubMed ID: 17545557
[TBL] [Abstract][Full Text] [Related]
2. Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis.
Steffann J; Frydman N; Gigarel N; Burlet P; Ray PF; Fanchin R; Feyereisen E; Kerbrat V; Tachdjian G; Bonnefont JP; Frydman R; Munnich A
J Med Genet; 2006 Mar; 43(3):244-7. PubMed ID: 16155197
[TBL] [Abstract][Full Text] [Related]
3. NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.
López-Gallardo E; Solano A; Herrero-Martín MD; Martínez-Romero I; Castaño-Pérez MD; Andreu AL; Herrera A; López-Pérez MJ; Ruiz-Pesini E; Montoya J
J Med Genet; 2009 Jan; 46(1):64-7. PubMed ID: 19124644
[TBL] [Abstract][Full Text] [Related]
4. Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders.
Vachin P; Adda-Herzog E; Chalouhi G; Elie C; Rio M; Rondeau S; Gigarel N; Jabot Hanin F; Monnot S; Borghese R; Bengoa J; Ville Y; Rotig A; Munnich A; Bonnefont JP; Steffann J
J Med Genet; 2018 Feb; 55(2):131-136. PubMed ID: 28754700
[TBL] [Abstract][Full Text] [Related]
5. Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load.
Enns GM; Bai RK; Beck AE; Wong LJ
Mol Genet Metab; 2006 Aug; 88(4):364-71. PubMed ID: 16546428
[TBL] [Abstract][Full Text] [Related]
6. [Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families].
Tesarová M; Hansíková H; Hlavatá A; Klement P; Houst'ková H; Houstĕk J; Zeman J
Cas Lek Cesk; 2002 Aug; 141(17):551-4. PubMed ID: 12404959
[TBL] [Abstract][Full Text] [Related]
7. Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system.
Monnot S; Gigarel N; Samuels DC; Burlet P; Hesters L; Frydman N; Frydman R; Kerbrat V; Funalot B; Martinovic J; Benachi A; Feingold J; Munnich A; Bonnefont JP; Steffann J
Hum Mutat; 2011 Jan; 32(1):116-25. PubMed ID: 21120938
[TBL] [Abstract][Full Text] [Related]
8. Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA.
Leshinsky-Silver E; Perach M; Basilevsky E; Hershkovitz E; Yanoov-Sharav M; Lerman-Sagie T; Lev D
Prenat Diagn; 2003 Jan; 23(1):31-3. PubMed ID: 12533809
[TBL] [Abstract][Full Text] [Related]
9. Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR.
Gigarel N; Ray PF; Burlet P; Frydman N; Royer G; Lebon S; Bonnefont JP; Frydman R; Munnich A; Steffann J
Mol Genet Metab; 2005 Mar; 84(3):289-92. PubMed ID: 15694179
[TBL] [Abstract][Full Text] [Related]
10. Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA.
White SL; Shanske S; Biros I; Warwick L; Dahl HM; Thorburn DR; Di Mauro S
Prenat Diagn; 1999 Dec; 19(12):1165-8. PubMed ID: 10590437
[TBL] [Abstract][Full Text] [Related]
11. Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development.
Bouchet C; Steffann J; Corcos J; Monnot S; Paquis V; Rötig A; Lebon S; Levy P; Royer G; Giurgea I; Gigarel N; Benachi A; Dumez Y; Munnich A; Bonnefont JP
J Med Genet; 2006 Oct; 43(10):788-92. PubMed ID: 16690729
[TBL] [Abstract][Full Text] [Related]
12. Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success.
Sallevelt SC; Dreesen JC; Drüsedau M; Spierts S; Coonen E; van Tienen FH; van Golde RJ; de Coo IF; Geraedts JP; de Die-Smulders CE; Smeets HJ
J Med Genet; 2013 Feb; 50(2):125-32. PubMed ID: 23339111
[TBL] [Abstract][Full Text] [Related]
13. Unusual findings in Leigh syndrome caused by T8993C mutation.
Yiş U; Seneca S; Dirik E; Kurul SH; Ozer E; Cakmakçi H; De Meirleir L
Eur J Paediatr Neurol; 2009 Nov; 13(6):550-2. PubMed ID: 19046652
[TBL] [Abstract][Full Text] [Related]
14. Heterogeneous patterns of tissue injury in NARP syndrome.
Gelfand JM; Duncan JL; Racine CA; Gillum LA; Chin CT; Zhang Y; Zhang Q; Wong LJ; Roorda A; Green AJ
J Neurol; 2011 Mar; 258(3):440-8. PubMed ID: 20953793
[TBL] [Abstract][Full Text] [Related]
15. Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene.
Kara B; Arıkan M; Maraş H; Abacı N; Cakıris A; Ustek D
Mol Genet Metab; 2012 Nov; 107(3):389-93. PubMed ID: 22819295
[TBL] [Abstract][Full Text] [Related]
16. Prenatal diagnosis by amniocentesis and chorionic villus biopsy of mtDNA mutation 8993T > G.
Pettman R; Hurley T; Addis J; Robinson B; Scott H; Kronick JB
J Inherit Metab Dis; 2007 Jun; 30(3):404. PubMed ID: 17508265
[TBL] [Abstract][Full Text] [Related]
17. Towards reliable prenatal diagnosis of mtDNA point mutations: studies of nt8993 mutations in oocytes, fetal tissues, children and adults.
Dahl HH; Thorburn DR; White SL
Hum Reprod; 2000 Jul; 15 Suppl 2():246-55. PubMed ID: 11041530
[TBL] [Abstract][Full Text] [Related]
18. A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome.
Mordel P; Schaeffer S; Dupas Q; Laville MA; Gérard M; Chapon F; Allouche S
Biochem Biophys Res Commun; 2017 Dec; 494(1-2):133-137. PubMed ID: 29054413
[TBL] [Abstract][Full Text] [Related]
19. NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study.
Rojo A; Campos Y; Sánchez JM; Bonaventura I; Aguilar M; García A; González L; Rey MJ; Arenas J; Olivé M; Ferrer I
Acta Neuropathol; 2006 Jun; 111(6):610-6. PubMed ID: 16525806
[TBL] [Abstract][Full Text] [Related]
20. Mosaicism for mitochondrial DNA polymorphic variants in placenta has implications for the feasibility of prenatal diagnosis in mtDNA diseases.
Marchington DR; Scott-Brown M; Barlow DH; Poulton J
Eur J Hum Genet; 2006 Jul; 14(7):816-23. PubMed ID: 16670690
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
