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Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis.
Arch Neurol. 2008 Oct;65(10):1333-6. doi: 10.1001/archneur.65.10.1333.
Arch Neurol. 2008.
PMID: 18852347
Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism.
Tastet J, Decalonne L, Marouillat S, Malvy J, Thépault RA, Toutain A, Paubel A, Tabagh R, Bénédetti H, Laumonnier F, Barthélémy C, Bonnet-Brilhault F, Andres CR, Vourc'h P.
Tastet J, et al. Among authors: paubel a.
Psychiatr Genet. 2015 Dec;25(6):263-7. doi: 10.1097/YPG.0000000000000100.
Psychiatr Genet. 2015.
PMID: 26368817
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A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation.
Védrine SM, Vourc'h P, Tabagh R, Mignon L, Höfflin S, Cherpi-Antar C, Mbarek O, Paubel A, Moraine C, Raynaud M, Andres CR.
Védrine SM, et al. Among authors: paubel a.
Neurosci Lett. 2011 Mar 17;491(2):118-21. doi: 10.1016/j.neulet.2011.01.019. Epub 2011 Jan 12.
Neurosci Lett. 2011.
PMID: 21236316
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A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma.
Zemmoura I, Vourc'h P, Paubel A, Parfait B, Cohen J, Bilan F, Kitzis A, Rousselot C, Parker F, François P, Andres CR.
Zemmoura I, et al. Among authors: paubel a.
Neuro Oncol. 2014 Jan;16(2):250-5. doi: 10.1093/neuonc/not165. Epub 2013 Dec 18.
Neuro Oncol. 2014.
PMID: 24357459
Free PMC article.
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Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Thierry G, Bénéteau C, Pichon O, Flori E, Isidor B, Popelard F, Delrue MA, Duboscq-Bidot L, Thuresson AC, van Bon BW, Cailley D, Rooryck C, Paubel A, Metay C, Dusser A, Pasquier L, Béri M, Bonnet C, Jaillard S, Dubourg C, Tou B, Quéré MP, Soussi-Zander C, Toutain A, Lacombe D, Arveiler B, de Vries BB, Jonveaux P, David A, Le Caignec C.
Thierry G, et al. Among authors: paubel a.
Am J Med Genet A. 2012 Jul;158A(7):1633-40. doi: 10.1002/ajmg.a.35423. Epub 2012 Jun 7.
Am J Med Genet A. 2012.
PMID: 22678713
Free article.
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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
Leroy C, Landais E, Briault S, David A, Tassy O, Gruchy N, Delobel B, Grégoire MJ, Leheup B, Taine L, Lacombe D, Delrue MA, Toutain A, Paubel A, Mugneret F, Thauvin-Robinet C, Arpin S, Le Caignec C, Jonveaux P, Beri M, Leporrier N, Motte J, Fiquet C, Brichet O, Mozelle-Nivoix M, Sabouraud P, Golovkine N, Bednarek N, Gaillard D, Doco-Fenzy M.
Leroy C, et al. Among authors: paubel a.
Eur J Hum Genet. 2013 Jun;21(6):602-12. doi: 10.1038/ejhg.2012.230. Epub 2012 Oct 17.
Eur J Hum Genet. 2013.
PMID: 23073310
Free PMC article.
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