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Page 1
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.
Bennouna-Greene V, Kremer S, Stoetzel C, Christmann D, Schuster C, Durand M, Verloes A, Sigaudy S, Holder-Espinasse M, Godet J, Brandt C, Marion V, Danion A, Dietemann JL, Dollfus H. Bennouna-Greene V, et al. Among authors: durand m. Clin Genet. 2011 Dec;80(6):523-31. doi: 10.1111/j.1399-0004.2011.01688.x. Epub 2011 May 25. Clin Genet. 2011. PMID: 21517826
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
Schaefer E, Durand M, Stoetzel C, Doray B, Viville B, Hellé S, Danse JM, Hamel C, Bitoun P, Goldenberg A, Finck S, Faivre L, Sigaudy S, Holder M, Vincent MC, Marion V, Bonneau D, Verloes A, Nisand I, Mandel JL, Dollfus H. Schaefer E, et al. Among authors: durand m. Eur J Med Genet. 2011 Mar-Apr;54(2):157-60. doi: 10.1016/j.ejmg.2010.10.004. Epub 2010 Oct 29. Eur J Med Genet. 2011. PMID: 21044901
BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response.
Marion V, Mockel A, De Melo C, Obringer C, Claussmann A, Simon A, Messaddeq N, Durand M, Dupuis L, Loeffler JP, King P, Mutter-Schmidt C, Petrovsky N, Stoetzel C, Dollfus H. Marion V, et al. Among authors: durand m. Cell Metab. 2012 Sep 5;16(3):363-77. doi: 10.1016/j.cmet.2012.08.005. Cell Metab. 2012. PMID: 22958920 Free article.
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly.
Schaefer E, Zaloszyc A, Lauer J, Durand M, Stutzmann F, Perdomo-Trujillo Y, Redin C, Bennouna Greene V, Toutain A, Perrin L, Gérard M, Caillard S, Bei X, Lewis RA, Christmann D, Letsch J, Kribs M, Mutter C, Muller J, Stoetzel C, Fischbach M, Marion V, Katsanis N, Dollfus H. Schaefer E, et al. Among authors: durand m. Mol Syndromol. 2011 Sep;1(6):273-281. doi: 10.1159/000331268. Epub 2011 Sep 14. Mol Syndromol. 2011. PMID: 22190896 Free PMC article.
Neuroimaging in Cockayne syndrome.
Koob M, Laugel V, Durand M, Fothergill H, Dalloz C, Sauvanaud F, Dollfus H, Namer IJ, Dietemann JL. Koob M, et al. Among authors: durand m. AJNR Am J Neuroradiol. 2010 Oct;31(9):1623-30. doi: 10.3174/ajnr.A2135. Epub 2010 Jun 3. AJNR Am J Neuroradiol. 2010. PMID: 20522568 Free PMC article.
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J, Lyonnet S, Murday V, Gubser-Mercati D, Funalot B, Brueton L, Sanchez Del Pozo J, Muñoz E, Gennery AR, Salih M, Noruzinia M, Prescott K, Ramos L, Stark Z, Fieggen K, Chabrol B, Sarda P, Edery P, Bloch-Zupan A, Fawcett H, Pham D, Egly JM, Lehmann AR, Sarasin A, Dollfus H. Laugel V, et al. Among authors: durand m. Hum Mutat. 2010 Feb;31(2):113-26. doi: 10.1002/humu.21154. Hum Mutat. 2010. PMID: 19894250
1,804 results