257 related articles for article (PubMed ID: 22456975)
1. PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring.
Hellebrekers DM; Wolfe R; Hendrickx AT; de Coo IF; de Die CE; Geraedts JP; Chinnery PF; Smeets HJ
Hum Reprod Update; 2012 Jul; 18(4):341-9. PubMed ID: 22456975
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. A systematic analysis of the suitability of preimplantation genetic diagnosis for mitochondrial diseases in a heteroplasmic mitochondrial mouse model.
Neupane J; Vandewoestyne M; Heindryckx B; Ghimire S; Lu Y; Qian C; Lierman S; Van Coster R; Gerris J; Deroo T; Deforce D; De Sutter P
Hum Reprod; 2014 Apr; 29(4):852-9. PubMed ID: 24524987
[TBL] [Abstract][Full Text] [Related]
4. De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome.
Jiang Z; Zhang Y; Yan J; Li F; Geng X; Lu H; Wei X; Feng Y; Wang C; Jia W
J Diabetes Res; 2019; 2019():5184647. PubMed ID: 31143779
[TBL] [Abstract][Full Text] [Related]
5. Mutation-specific effects in germline transmission of pathogenic mtDNA variants.
Otten ABC; Sallevelt SCEH; Carling PJ; Dreesen JCFM; Drüsedau M; Spierts S; Paulussen ADC; de Die-Smulders CEM; Herbert M; Chinnery PF; Samuels DC; Lindsey P; Smeets HJM
Hum Reprod; 2018 Jul; 33(7):1331-1341. PubMed ID: 29850888
[TBL] [Abstract][Full Text] [Related]
6. Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis.
Smeets HJ; Sallevelt SC; Dreesen JC; de Die-Smulders CE; de Coo IF
Ann N Y Acad Sci; 2015 Sep; 1350():29-36. PubMed ID: 26312584
[TBL] [Abstract][Full Text] [Related]
7. Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy.
Engelstad K; Sklerov M; Kriger J; Sanford A; Grier J; Ash D; Egli D; DiMauro S; Thompson JL; Sauer MV; Hirano M
Hum Reprod; 2016 May; 31(5):1058-65. PubMed ID: 26936885
[TBL] [Abstract][Full Text] [Related]
8. Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.
Wilson IJ; Carling PJ; Alston CL; Floros VI; Pyle A; Hudson G; Sallevelt SC; Lamperti C; Carelli V; Bindoff LA; Samuels DC; Wonnapinij P; Zeviani M; Taylor RW; Smeets HJ; Horvath R; Chinnery PF
Hum Mol Genet; 2016 Mar; 25(5):1031-41. PubMed ID: 26740552
[TBL] [Abstract][Full Text] [Related]
9. The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes.
Tabebi M; Safi W; Felhi R; Alila Fersi O; Keskes L; Abid M; Mnif M; Fakhfakh F
Mol Genet Genomic Med; 2020 Jul; 8(7):e1292. PubMed ID: 32394641
[TBL] [Abstract][Full Text] [Related]
10. Modeling-based prediction tools for preimplantation genetic testing of mitochondrial DNA diseases: estimating symptomatic thresholds, risk, and chance of success.
Ji D; Zhang N; Zou W; Zhang Z; Marley JL; Liu Z; Liang C; Shen L; Liu Y; Liang D; Su T; Du Y; Cao Y
J Assist Reprod Genet; 2023 Sep; 40(9):2185-2196. PubMed ID: 37439868
[TBL] [Abstract][Full Text] [Related]
11. Clinical application of sequencing-based methods for parallel preimplantation genetic testing for mitochondrial DNA disease and aneuploidy.
Spath K; Babariya D; Konstantinidis M; Lowndes J; Child T; Grifo JA; Poulton J; Wells D
Fertil Steril; 2021 Jun; 115(6):1521-1532. PubMed ID: 33745725
[TBL] [Abstract][Full Text] [Related]
12. Novel reproductive technologies to prevent mitochondrial disease.
Craven L; Tang MX; Gorman GS; De Sutter P; Heindryckx B
Hum Reprod Update; 2017 Sep; 23(5):501-519. PubMed ID: 28651360
[TBL] [Abstract][Full Text] [Related]
13. Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices.
Sallevelt SCEH; Dreesen JCFM; Coonen E; Paulussen ADC; Hellebrekers DMEI; de Die-Smulders CEM; Smeets HJM; Lindsey P
J Med Genet; 2017 Oct; 54(10):693-697. PubMed ID: 28668821
[TBL] [Abstract][Full Text] [Related]
14. Genetic Counselling for Maternally Inherited Mitochondrial Disorders.
Poulton J; Finsterer J; Yu-Wai-Man P
Mol Diagn Ther; 2017 Aug; 21(4):419-429. PubMed ID: 28536827
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes.
Uusimaa J; Finnilä S; Remes AM; Rantala H; Vainionpää L; Hassinen IE; Majamaa K
Pediatrics; 2004 Aug; 114(2):443-50. PubMed ID: 15286228
[TBL] [Abstract][Full Text] [Related]
17. Preventing the transmission of mitochondrial DNA disorders: selecting the good guys or kicking out the bad guys.
Smeets HJ
Reprod Biomed Online; 2013 Dec; 27(6):599-610. PubMed ID: 24135157
[TBL] [Abstract][Full Text] [Related]
18. Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.
Tuppen HA; Fattori F; Carrozzo R; Zeviani M; DiMauro S; Seneca S; Martindale JE; Olpin SE; Treacy EP; McFarland R; Santorelli FM; Taylor RW
J Med Genet; 2008 Jan; 45(1):55-61. PubMed ID: 18178636
[TBL] [Abstract][Full Text] [Related]
19. Homoplasmy, heteroplasmy, and mitochondrial dystonia.
McFarland R; Chinnery PF; Blakely EL; Schaefer AM; Morris AA; Foster SM; Tuppen HA; Ramesh V; Dorman PJ; Turnbull DM; Taylor RW
Neurology; 2007 Aug; 69(9):911-6. PubMed ID: 17724295
[TBL] [Abstract][Full Text] [Related]
20. Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome.
Limongelli A; Schaefer J; Jackson S; Invernizzi F; Kirino Y; Suzuki T; Reichmann H; Zeviani M
J Med Genet; 2004 May; 41(5):342-9. PubMed ID: 15121771
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
