Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 1
2002 2
2003 5
2004 1
2006 2
2007 1
2009 1
2010 3
2011 3
2012 4
2013 3
2014 5
2015 4
2016 2
2017 2
2018 2
2019 1
2020 1
2021 1
2022 0
Text availability
Article attribute
Article type
Publication date

Search Results

38 results
Results by year
Filters applied: . Clear all
Page 1
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E. Sferra A, et al. Among authors: eymard pierre e. Brain. 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185. Brain. 2021. PMID: 33964137
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.
Dorboz I, Dumay-Odelot H, Boussaid K, Bouyacoub Y, Barreau P, Samaan S, Jmel H, Eymard-Pierre E, Cances C, Bar C, Poulat AL, Rousselle C, Renaldo F, Elmaleh-Bergès M, Teichmann M, Boespflug-Tanguy O. Dorboz I, et al. Among authors: eymard pierre e. Neurol Genet. 2018 Dec 3;4(6):e289. doi: 10.1212/NXG.0000000000000289. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30584594 Free PMC article.
Analysis of the cost effectiveness of different strategies for the antenatal diagnosis of chromosomal aberrations in cases of ultrasound-identified fetal abnormalities.
Mourgues C, Eymard-Pierre E, Laurichesse-Delmas H, Gerbaud L, Gouas L, Pébrel-Richard C, Vago P, Debost-Legrand A, Goumy C. Mourgues C, et al. Among authors: eymard pierre e. Ann Biol Clin (Paris). 2020 Oct 1;78(5):483-491. doi: 10.1684/abc.2020.1580. Ann Biol Clin (Paris). 2020. PMID: 32933889
Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome.
Sarret C, Ashkavand Z, Paules E, Dorboz I, Pediaditakis P, Sumner S, Eymard-Pierre E, Francannet C, Krupenko NI, Boespflug-Tanguy O, Krupenko SA. Sarret C, et al. Among authors: eymard pierre e. NPJ Genom Med. 2019 Jul 23;4:17. doi: 10.1038/s41525-019-0092-9. eCollection 2019. NPJ Genom Med. 2019. PMID: 31341639 Free PMC article.
[eIF2B and Cree Indian leukodystrophies].
Fogli A, Rodriguez D, Eymard-Pierre E, Boespflug-Tanguy O. Fogli A, et al. Among authors: eymard pierre e. Med Sci (Paris). 2003 Mar;19(3):283-4. doi: 10.1051/medsci/2003193283. Med Sci (Paris). 2003. PMID: 12836410 Free article. French. No abstract available.
Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.
Sarret C, Rigal M, Vaurs-Barrière C, Dorboz I, Eymard-Pierre E, Combes P, Giraud G, Wanders RJ, Afenjar A, Francannet C, Boespflug-Tanguy O. Sarret C, et al. Among authors: eymard pierre e. J Neurol Sci. 2012 Jan 15;312(1-2):123-6. doi: 10.1016/j.jns.2011.08.006. Epub 2011 Aug 26. J Neurol Sci. 2012. PMID: 21872273
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.
Patrono C, Di Giacinto G, Eymard-Pierre E, Santorelli FM, Rodriguez D, De Stefano N, Federico A, Gatti R, Benigno V, Megarbané A, Tabarki B, Boespflug-Tanguy O, Bertini E. Patrono C, et al. Among authors: eymard pierre e. Neurology. 2003 Aug 26;61(4):534-7. doi: 10.1212/01.wnl.0000076184.21183.ca. Neurology. 2003. PMID: 12939431
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.
Goumy C, Laffargue F, Eymard-Pierre E, Kemeny S, Gay-Bellile M, Gouas L, Gallot D, Francannet C, Tchirkov A, Pebrel-Richard C, Vago P. Goumy C, et al. Among authors: eymard pierre e. Am J Med Genet A. 2015 Jan;167A(1):250-3. doi: 10.1002/ajmg.a.36840. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25425496
38 results