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Results: 1 to 20 of 108

1.

Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans.

Gigarel N, Hesters L, Samuels DC, Monnot S, Burlet P, Kerbrat V, Lamazou F, Benachi A, Frydman R, Feingold J, Rotig A, Munnich A, Bonnefont JP, Frydman N, Steffann J.

Am J Hum Genet. 2011 Apr 8;88(4):494-8. doi: 10.1016/j.ajhg.2011.03.010.

PMID:
21473984
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.

Monnot S, Samuels DC, Hesters L, Frydman N, Gigarel N, Burlet P, Kerbrat V, Lamazou F, Frydman R, Benachi A, Feingold J, Rotig A, Munnich A, Bonnefont JP, Steffann J.

Hum Mol Genet. 2013 May 1;22(9):1867-72. doi: 10.1093/hmg/ddt040. Epub 2013 Feb 5.

PMID:
23390135
[PubMed - indexed for MEDLINE]
Free Article
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. doi: 10.1093/humrep/deu016. Epub 2014 Feb 12.

PMID:
24524987
[PubMed - in process]
4.

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. doi: 10.1002/humu.21417.

PMID:
21120938
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases.

Dean NL, Battersby BJ, Ao A, Gosden RG, Tan SL, Shoubridge EA, Molnar MJ.

Mol Hum Reprod. 2003 Oct;9(10):631-8. Erratum in: Mol Hum Reprod. 2004 Aug;10(8):621.

PMID:
12970401
[PubMed - indexed for MEDLINE]
Free Article
6.

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. Epub 2006 May 11.

PMID:
16690729
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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. Epub 2005 Sep 9.

PMID:
16155197
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder.

Treff NR, Campos J, Tao X, Levy B, Ferry KM, Scott RT Jr.

Fertil Steril. 2012 Nov;98(5):1236-40. doi: 10.1016/j.fertnstert.2012.07.1119. Epub 2012 Aug 21.

PMID:
22921075
[PubMed - indexed for MEDLINE]
9.

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. doi: 10.1136/jmedgenet-2012-101172.

PMID:
23339111
[PubMed - indexed for MEDLINE]
10.

Detection of known base substitution mutations in human mitochondrial DNA of MERRF and MELAS by biochip technology.

Du W, Li W, Chen G, Cao H, Tang H, Tang X, Jin Q, Sun Z, Zhao H, Zhou W, He S, Lv Y, Zhao J, Zhang X.

Biosens Bioelectron. 2009 Apr 15;24(8):2371-6. doi: 10.1016/j.bios.2008.12.008. Epub 2008 Dec 9.

PMID:
19155171
[PubMed - indexed for MEDLINE]
11.

Rapid mitochondrial DNA segregation in primate preimplantation embryos precedes somatic and germline bottleneck.

Lee HS, Ma H, Juanes RC, Tachibana M, Sparman M, Woodward J, Ramsey C, Xu J, Kang EJ, Amato P, Mair G, Steinborn R, Mitalipov S.

Cell Rep. 2012 May 31;1(5):506-15.

PMID:
22701816
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.

Chinnery PF, Howell N, Lightowlers RN, Turnbull DM.

Brain. 1998 Oct;121 ( Pt 10):1889-94.

PMID:
9798744
[PubMed - indexed for MEDLINE]
Free Article
13.

Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases.

Choi BO, Hwang JH, Cho EM, Jeong EH, Hyun YS, Jeon HJ, Seong KM, Cho NS, Chung KW.

Exp Mol Med. 2010 Jun 30;42(6):446-55.

PMID:
20440095
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems.

Attardi G, Yoneda M, Chomyn A.

Biochim Biophys Acta. 1995 May 24;1271(1):241-8. Review.

PMID:
7599215
[PubMed - indexed for MEDLINE]
15.

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. Epub 2007 Jun 1.

PMID:
17545557
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome.

Nakamura M, Nakano S, Goto Y, Ozawa M, Nagahama Y, Fukuyama H, Akiguchi I, Kaji R, Kimura J.

Biochem Biophys Res Commun. 1995 Sep 5;214(1):86-93.

PMID:
7669057
[PubMed - indexed for MEDLINE]
17.

Heteroplasmic mitochondrial tRNA(Lys) mutation and its complementation in MERRF patient-derived mitochondrial transformants.

Yoneda M, Miyatake T, Attardi G.

Muscle Nerve Suppl. 1995;3:S95-101.

PMID:
7603536
[PubMed - indexed for MEDLINE]
18.

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes.

Blok RB, Gook DA, Thorburn DR, Dahl HH.

Am J Hum Genet. 1997 Jun;60(6):1495-501.

PMID:
9199572
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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. doi: 10.1093/humupd/dms008. Epub 2012 Mar 28. Review.

PMID:
22456975
[PubMed - indexed for MEDLINE]
Free Article
20.

Rapid and noninvasive screening of patients with mitochondrial myopathy.

Kotsimbos N, Jean-Francois MJ, Huizing M, Kapsa RM, Lertrit P, Siregar NC, Marzuki S, Sue C, Byrne E.

Hum Mutat. 1994;4(2):132-5.

PMID:
7981717
[PubMed - indexed for MEDLINE]

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