Paquis-Flucklinger V - Search Results

1

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, François B, Genin EC, Fragaki K, Volker-Touw CLM, Vasnier C, Serre V, van Gassen KLI, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MGM, Jans JJM, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Rötig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V. Ait-El-Mkadem S, et al. Am J Hum Genet. 2017 Jan 5;100(1):151-159. doi: 10.1016/j.ajhg.2016.11.014. Epub 2016 Dec 15. Am J Hum Genet. 2017. PMID: 27989324 Free PMC article.

2

MSH4 acts in conjunction with MLH1 during mammalian meiosis.

Santucci-Darmanin S, Walpita D, Lespinasse F, Desnuelle C, Ashley T, Paquis-Flucklinger V. Santucci-Darmanin S, et al. FASEB J. 2000 Aug;14(11):1539-47. doi: 10.1096/fj.14.11.1539. FASEB J. 2000. PMID: 10928988

3

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

4

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 Free article.

5

Association between MSH4 (MutS homologue 4) and the DNA strand-exchange RAD51 and DMC1 proteins during mammalian meiosis.

Neyton S, Lespinasse F, Moens PB, Paul R, Gaudray P, Paquis-Flucklinger V, Santucci-Darmanin S. Neyton S, et al. Mol Hum Reprod. 2004 Dec;10(12):917-24. doi: 10.1093/molehr/gah123. Epub 2004 Oct 15. Mol Hum Reprod. 2004. PMID: 15489243

6

Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.

Giuliano F, Bannwarth S, Monnot S, Cano A, Chabrol B, Vialettes B, Delobel B, Paquis-Flucklinger V; French Group of WS. Giuliano F, et al. Hum Mutat. 2005 Jan;25(1):99-100. doi: 10.1002/humu.9300. Hum Mutat. 2005. PMID: 15605410

7

Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.

Bannwarth S, Procaccio V, Paquis-Flucklinger V. Bannwarth S, et al. Hum Mutat. 2005 Jun;25(6):575-82. doi: 10.1002/humu.20177. Hum Mutat. 2005. PMID: 15880407

8

A novel homozygous MMP2 mutation in a family with Winchester syndrome.

Rouzier C, Vanatka R, Bannwarth S, Philip N, Coussement A, Paquis-Flucklinger V, Lambert JC. Rouzier C, et al. Clin Genet. 2006 Mar;69(3):271-6. doi: 10.1111/j.1399-0004.2006.00584.x. Clin Genet. 2006. PMID: 16542393

9

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

Naïmi M, Bannwarth S, Procaccio V, Pouget J, Desnuelle C, Pellissier JF, Rötig A, Munnich A, Calvas P, Richelme C, Jonveaux P, Castelnovo G, Simon M, Clanet M, Wallace D, Paquis-Flucklinger V. Naïmi M, et al. Eur J Hum Genet. 2006 Aug;14(8):917-22. doi: 10.1038/sj.ejhg.5201627. Epub 2006 Apr 26. Eur J Hum Genet. 2006. PMID: 16639411

10

Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes.

Procaccio V, Neckelmann N, Paquis-Flucklinger V, Bannwarth S, Jimenez R, Davila A, Poole JC, Wallace DC. Procaccio V, et al. Mol Diagn Ther. 2006;10(6):381-9. doi: 10.1007/BF03256215. Mol Diagn Ther. 2006. PMID: 17154655

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