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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
1997 2
2000 4
2001 2
2002 2
2003 2
2004 4
2005 4
2006 4
2007 2
2008 1
2009 1
2010 1
2011 6
2013 1
2014 1
2017 1
2018 1
2020 1
2021 3
2024 0

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38 results

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Page 1
Mitochondrial DNA mutations do not impact early human embryonic development.
Chatzovoulou K, Mayeur A, Gigarel N, Jabot-Hanin F, Hesters L, Munnich A, Frydman N, Bonnefont JP, Steffann J. Chatzovoulou K, et al. Among authors: gigarel n. Mitochondrion. 2021 May;58:59-63. doi: 10.1016/j.mito.2021.02.012. Epub 2021 Feb 24. Mitochondrion. 2021. PMID: 33639270
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
Gobin-Limballe S, Ottolenghi C, Reyal F, Arnoux JB, Magen M, Simon M, Brassier A, Jabot-Hanin F, Lonlay P, Pontoizeau C, Guirat M, Rio M, Gesny R, Gigarel N, Royer G, Steffann J, Munnich A, Bonnefont JP. Gobin-Limballe S, et al. Among authors: gigarel n. J Inherit Metab Dis. 2021 Sep;44(5):1235-1247. doi: 10.1002/jimd.12404. Epub 2021 Jun 10. J Inherit Metab Dis. 2021. PMID: 34014569
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.
Steffann J, Monnot S, Magen M, Assouline Z, Gigarel N, Ville Y, Salomon L, Bessiere B, Martinovic J, Rötig A, Bengoa J, Borghèse R, Munnich A, Barcia G, Bonnefont JP. Steffann J, et al. Among authors: gigarel n. Genet Med. 2021 Apr;23(4):720-731. doi: 10.1038/s41436-020-01043-3. Epub 2020 Dec 11. Genet Med. 2021. PMID: 33303968 Free article.
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. Vachin P, et al. Among authors: gigarel n. J Med Genet. 2018 Feb;55(2):131-136. doi: 10.1136/jmedgenet-2017-104615. Epub 2017 Jul 28. J Med Genet. 2018. PMID: 28754700
Prenatal diagnosis of cystic fibrosis.
Bonnefont JP, Thuillier L, Gigarel N, Rochette C, Briard ML, Munnich A. Bonnefont JP, et al. Among authors: gigarel n. Pediatr Pulmonol Suppl. 1997;16:63-4. doi: 10.1002/ppul.1950230834. Pediatr Pulmonol Suppl. 1997. PMID: 9443202 Review. No abstract available.
38 results