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Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Neurology. 2023 Jun 6;100(23):e2360-e2373. doi: 10.1212/WNL.0000000000207296. Epub 2023 Apr 19.
Neurology. 2023.
PMID: 37076312
Free PMC article.
ETB receptor polymorphism is associated with airway obstruction.
Taillé C, Guénégou A, Almolki A, Piperaud M, Leynaert B, Vuillaumier S, Neukirch F, Boczkowski J, Aubier M, Benessiano J, Crestani B.
Taillé C, et al. Among authors: vuillaumier s.
BMC Pulm Med. 2007 Apr 30;7:5. doi: 10.1186/1471-2466-7-5.
BMC Pulm Med. 2007.
PMID: 17470272
Free PMC article.
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Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Witters P, Honzik T, Bauchart E, Altassan R, Pascreau T, Bruneel A, Vuillaumier S, Seta N, Borgel D, Matthijs G, Jaeken J, Meersseman W, Cassiman D, Pascale de L, Morava E.
Witters P, et al. Among authors: vuillaumier s.
Genet Med. 2019 May;21(5):1181-1188. doi: 10.1038/s41436-018-0301-4. Epub 2018 Oct 8.
Genet Med. 2019.
PMID: 30293989
Free article.
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Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.
Mochel F, Hainque E, Gras D, Adanyeguh IM, Caillet S, Héron B, Roubertie A, Kaphan E, Valabregue R, Rinaldi D, Vuillaumier S, Schiffmann R, Ottolenghi C, Hogrel JY, Servais L, Roze E.
Mochel F, et al. Among authors: vuillaumier s.
J Neurol Neurosurg Psychiatry. 2016 May;87(5):550-3. doi: 10.1136/jnnp-2015-311475. Epub 2015 Nov 3.
J Neurol Neurosurg Psychiatry. 2016.
PMID: 26536893
Free PMC article.
Clinical Trial.
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Cross-species characterization of the promoter region of the cystic fibrosis transmembrane conductance regulator gene reveals multiple levels of regulation.
Vuillaumier S, Dixmeras I, Messaï H, Lapouméroulie C, Lallemand D, Gekas J, Chehab FF, Perret C, Elion J, Denamur E.
Vuillaumier S, et al.
Biochem J. 1997 Nov 1;327 ( Pt 3)(Pt 3):651-62. doi: 10.1042/bj3270651.
Biochem J. 1997.
PMID: 9581539
Free PMC article.
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Absence of mutations in the interspecies conserved regions of the CFTR promoter region in cystic fibrosis (CF) and CF related patients.
Verlingue C, Vuillaumier S, Mercier B, Le Gac M, Elion J, Férec C, Denamur E.
Verlingue C, et al. Among authors: vuillaumier s.
J Med Genet. 1998 Feb;35(2):137-40. doi: 10.1136/jmg.35.2.137.
J Med Genet. 1998.
PMID: 9507393
Free PMC article.
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Phylogenetic analysis of cystic fibrosis transmembrane conductance regulator gene in mammalian species argues for the development of a rabbit model for cystic fibrosis.
Vuillaumier S, Kaltenboeck B, Lecointre G, Lehn P, Denamur E.
Vuillaumier S, et al.
Mol Biol Evol. 1997 Apr;14(4):372-80. doi: 10.1093/oxfordjournals.molbev.a025773.
Mol Biol Evol. 1997.
PMID: 9100367
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Compound heterozygosity for delta F508 and F508C: a cautionary note on the molecular diagnosis of cystic fibrosis.
Dufourcq R, Vuillaumier S, Pascaud O, Guidal C, Oury JF, Elion J, Denamur E.
Dufourcq R, et al. Among authors: vuillaumier s.
Prenat Diagn. 1994 Dec;14(12):1176-7. doi: 10.1002/pd.1970141216.
Prenat Diagn. 1994.
PMID: 7899288
No abstract available.
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