Samuels DC - Search Results

1

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. Monnot S, et al. Among authors: samuels dc. Hum Mutat. 2011 Jan;32(1):116-25. doi: 10.1002/humu.21417. Hum Mutat. 2011. PMID: 21120938 Free PMC article.

2

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. Gigarel N, et al. Among authors: samuels dc. Am J Hum Genet. 2011 Apr 8;88(4):494-8. doi: 10.1016/j.ajhg.2011.03.010. Am J Hum Genet. 2011. PMID: 21473984 Free PMC article.

3

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. Monnot S, et al. Among authors: samuels dc. Hum Mol Genet. 2013 May 1;22(9):1867-72. doi: 10.1093/hmg/ddt040. Epub 2013 Feb 5. Hum Mol Genet. 2013. PMID: 23390135

4

Data from artificial models of mitochondrial DNA disorders are not always applicable to humans.

Steffann J, Gigarel N, Samuels DC, Monnot S, Borghese R, Hesters L, Frydman N, Burlet P, Frydman R, Benachi A, Rotig A, Munnich A, Bonnefont JP. Steffann J, et al. Among authors: samuels dc. Cell Rep. 2014 May 22;7(4):933-4. doi: 10.1016/j.celrep.2014.05.005. Cell Rep. 2014. PMID: 24856293 Free article. No abstract available.

5

Fine Time Scaling of Purifying Selection on Human Nonsynonymous mtDNA Mutations Based on the Worldwide Population Tree and Mother-Child Pairs.

Cavadas B, Soares P, Camacho R, Brandão A, Costa MD, Fernandes V, Pereira JB, Rito T, Samuels DC, Pereira L. Cavadas B, et al. Among authors: samuels dc. Hum Mutat. 2015 Nov;36(11):1100-11. doi: 10.1002/humu.22849. Epub 2015 Aug 25. Hum Mutat. 2015. PMID: 26252938

6

Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood.

Rajasimha HK, Chinnery PF, Samuels DC. Rajasimha HK, et al. Among authors: samuels dc. Am J Hum Genet. 2008 Feb;82(2):333-43. doi: 10.1016/j.ajhg.2007.10.007. Am J Hum Genet. 2008. PMID: 18252214 Free PMC article.

7

Random genetic drift determines the level of mutant mtDNA in human primary oocytes.

Brown DT, Samuels DC, Michael EM, Turnbull DM, Chinnery PF. Brown DT, et al. Among authors: samuels dc. Am J Hum Genet. 2001 Feb;68(2):533-6. doi: 10.1086/318190. Epub 2000 Dec 29. Am J Hum Genet. 2001. PMID: 11133360 Free PMC article.

8

Relaxed replication of mtDNA: A model with implications for the expression of disease.

Chinnery PF, Samuels DC. Chinnery PF, et al. Among authors: samuels dc. Am J Hum Genet. 1999 Apr;64(4):1158-65. doi: 10.1086/302311. Am J Hum Genet. 1999. PMID: 10090901 Free PMC article.

9

Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells.

Raap AK, Jahangir Tafrechi RS, van de Rijke FM, Pyle A, Wählby C, Szuhai K, Ravelli RB, de Coo RF, Rajasimha HK, Nilsson M, Chinnery PF, Samuels DC, Janssen GM. Raap AK, et al. Among authors: samuels dc. PLoS One. 2012;7(12):e52080. doi: 10.1371/journal.pone.0052080. Epub 2012 Dec 18. PLoS One. 2012. PMID: 23272214 Free PMC article.

10

Mitochondrial DNA rearrangements in health and disease--a comprehensive study.

Damas J, Samuels DC, Carneiro J, Amorim A, Pereira F. Damas J, et al. Among authors: samuels dc. Hum Mutat. 2014 Jan;35(1):1-14. doi: 10.1002/humu.22452. Epub 2013 Oct 18. Hum Mutat. 2014. PMID: 24115352 Review.

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