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104 results
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Early-onset fatal encephalomyopathy associated with severe mtDNA depletion.
Paquis-Flucklinger V, Pellissier JF, Camboulives J, Chabrol B, Saunières A, Monfort MF, Giudicelli H, Desnuelle C. Paquis-Flucklinger V, et al. Eur J Pediatr. 1995 Jul;154(7):557-62. doi: 10.1007/BF02074834. Eur J Pediatr. 1995. PMID: 7556323
Rapid mapping of mitochondrial dna deletions by large-fragment PCR.
Paul R, Santucci S, Saunières A, Desnuelle C, Paquis-Flucklinger V. Paul R, et al. Trends Genet. 1996 Apr;12(4):131-2. Trends Genet. 1996. PMID: 8901416 No abstract available.
[Detection and prevalence of mitochondrial genome mutations in diabetes].
Paquis-Flucklinger V, Vialettes B, Canivet B, Freychet P, Hieronimus S, Vague P, Saunières A, Desnuelle C. Paquis-Flucklinger V, et al. Journ Annu Diabetol Hotel Dieu. 1997:25-31. Journ Annu Diabetol Hotel Dieu. 1997. PMID: 9296981 Review. French. No abstract available.
Cloning and expression analysis of a meiosis-specific MutS homolog: the human MSH4 gene.
Paquis-Flucklinger V, Santucci-Darmanin S, Paul R, Saunières A, Turc-Carel C, Desnuelle C. Paquis-Flucklinger V, et al. Genomics. 1997 Sep 1;44(2):188-94. doi: 10.1006/geno.1997.4857. Genomics. 1997. PMID: 9299235
Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report.
Vialettes BH, Paquis-Flucklinger V, Pelissier JF, Bendahan D, Narbonne H, Silvestre-Aillaud P, Montfort MF, Righini-Chossegros M, Pouget J, Cozzone PJ, Desnuelle C. Vialettes BH, et al. Diabetes Care. 1997 Nov;20(11):1731-7. doi: 10.2337/diacare.20.11.1731. Diabetes Care. 1997. PMID: 9353617
Importance of searching for associated mitochondrial DNA alterations in patients with multiple deletions.
Paul R, Desnuelle C, Pouget J, Pellissier JF, Richelme C, Monfort MF, Butori C, Saunieres A, Paquis-Flucklinger V. Paul R, et al. Eur J Hum Genet. 2000 May;8(5):331-8. doi: 10.1038/sj.ejhg.5200463. Eur J Hum Genet. 2000. PMID: 10854092
Mitochondrial DNA variations in patients with maternally inherited diabetes and deafness syndrome.
Perucca-Lostanlen D, Narbonne H, Hernandez JB, Staccini P, Saunieres A, Paquis-Flucklinger V, Vialettes B, Desnuelle C. Perucca-Lostanlen D, et al. Biochem Biophys Res Commun. 2000 Nov 2;277(3):771-5. doi: 10.1006/bbrc.2000.3751. Biochem Biophys Res Commun. 2000. PMID: 11062027
The DNA mismatch-repair MLH3 protein interacts with MSH4 in meiotic cells, supporting a role for this MutL homolog in mammalian meiotic recombination.
Santucci-Darmanin S, Neyton S, Lespinasse F, Saunières A, Gaudray P, Paquis-Flucklinger V. Santucci-Darmanin S, et al. Hum Mol Genet. 2002 Jul 15;11(15):1697-706. doi: 10.1093/hmg/11.15.1697. Hum Mol Genet. 2002. PMID: 12095912
Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness.
Perucca-Lostanlen D, Taylor RW, Narbonne H, Mousson de Camaret B, Hayes CM, Saunieres A, Paquis-Flucklinger V, Turnbull DM, Vialettes B, Desnuelle C. Perucca-Lostanlen D, et al. Biochim Biophys Acta. 2002 Dec 12;1588(3):210-6. doi: 10.1016/s0925-4439(02)00167-9. Biochim Biophys Acta. 2002. PMID: 12393175
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