Bannwarth S - Search Results

1

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. Among authors: bannwarth s. 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

2

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. Among authors: bannwarth s. Hum Mutat. 2005 Jan;25(1):99-100. doi: 10.1002/humu.9300. Hum Mutat. 2005. PMID: 15605410

3

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

4

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. Among authors: bannwarth s. Clin Genet. 2006 Mar;69(3):271-6. doi: 10.1111/j.1399-0004.2006.00584.x. Clin Genet. 2006. PMID: 16542393

5

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. Among authors: bannwarth s. Mol Diagn Ther. 2006;10(6):381-9. doi: 10.1007/BF03256215. Mol Diagn Ther. 2006. PMID: 17154655

6

Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor Nuclease.

Bannwarth S, Procaccio V, Paquis-Flucklinger V. Bannwarth S, et al. Nat Protoc. 2006;1(4):2037-47. doi: 10.1038/nprot.2006.318. Nat Protoc. 2006. PMID: 17487193

7

Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.

Bannwarth S, Procaccio V, Rouzier C, Fragaki K, Poole J, Chabrol B, Desnuelle C, Pouget J, Azulay JP, Attarian S, Pellissier JF, Gargus JJ, Abdenur JE, Mozaffar T, Calvas P, Labauge P, Pages M, Wallace DC, Lambert JC, Paquis-Flucklinger V. Bannwarth S, et al. Mitochondrion. 2008 Mar;8(2):136-45. doi: 10.1016/j.mito.2007.10.008. Epub 2007 Nov 6. Mitochondrion. 2008. PMID: 18078792

8

Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene.

Valéro R, Bannwarth S, Roman S, Paquis-Flucklinger V, Vialettes B. Valéro R, et al. Among authors: bannwarth s. Diabet Med. 2008 Jun;25(6):657-61. doi: 10.1111/j.1464-5491.2008.02448.x. Diabet Med. 2008. PMID: 18544103

9

Rapid identification of unknown heteroplasmic mitochondrial DNA mutations with mismatch-specific surveyor nuclease.

Bannwarth S, Procaccio V, Paquis-Flucklinger V. Bannwarth S, et al. Methods Mol Biol. 2009;554:301-13. doi: 10.1007/978-1-59745-521-3_19. Methods Mol Biol. 2009. PMID: 19513682

10

A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene.

Fragaki K, Procaccio V, Bannwarth S, Serre V, O'Hearn S, Potluri P, Augé G, Casagrande F, Caruba C, Lambert JC, Paquis-Flucklinger V. Fragaki K, et al. Among authors: bannwarth s. Mitochondrion. 2009 Sep;9(5):346-52. doi: 10.1016/j.mito.2009.06.002. Epub 2009 Jun 27. Mitochondrion. 2009. PMID: 19563916

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