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Year Number of Results
1997 1
1999 1
2001 1
2004 1
2005 4
2006 2
2007 4
2008 4
2009 5
2010 9
2011 7
2012 7
2013 3
2014 1
2015 2
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45 results

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Page 1
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H. Bladen CL, et al. Among authors: jeannet py. Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25604253 Free PMC article.
[Pediatrics].
Fanconi S, Giannoni E, Roth-Kleiner M, Pittet I, Suris JC, Spehrs-Ciaffi V, Jeannet PY, Hafen GM. Fanconi S, et al. Among authors: jeannet py. Rev Med Suisse. 2009 Jan 7;5(185):53-8. Rev Med Suisse. 2009. PMID: 19216326 French.
[Pediatrics].
Fanconi S, Reinberg O, Gapany C, Meyrat BJ, Frey P, Vaudaux B, Di Bernardo S, Boulos T, Sekarski N, Spehrs-Ciaffi V, Jeannet PY. Fanconi S, et al. Among authors: jeannet py. Rev Med Suisse. 2008 Jan 9;4(139):61-6. Rev Med Suisse. 2008. PMID: 18251218 Review. French.
Orofacial dysfunction in Duchenne muscular dystrophy.
Botteron S, Verdebout CM, Jeannet PY, Kiliaridis S. Botteron S, et al. Among authors: jeannet py. Arch Oral Biol. 2009 Jan;54(1):26-31. doi: 10.1016/j.archoralbio.2008.07.012. Epub 2008 Sep 20. Arch Oral Biol. 2009. PMID: 18805518
Clinical and histologic findings in autosomal centronuclear myopathy.
Jeannet PY, Bassez G, Eymard B, Laforêt P, Urtizberea JA, Rouche A, Guicheney P, Fardeau M, Romero NB. Jeannet PY, et al. Neurology. 2004 May 11;62(9):1484-90. doi: 10.1212/01.wnl.0000124388.67003.56. Neurology. 2004. PMID: 15136669 Review.
Cerebral sinus venous thrombosis in Swiss children.
Grunt S, Wingeier K, Wehrli E, Boltshauser E, Capone A, Fluss J, Gubser-Mercati D, Jeannet PY, Keller E, Marcoz JP, Schmitt-Mechelke T, Weber P, Weissert M, Steinlin M; Swiss Neuropaediatric Stroke Registry. Grunt S, et al. Among authors: jeannet py. Dev Med Child Neurol. 2010 Dec;52(12):1145-50. doi: 10.1111/j.1469-8749.2010.03722.x. Dev Med Child Neurol. 2010. PMID: 20573178 Free article.
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, Crow YJ. Anderson BH, et al. Among authors: jeannet py. Nat Genet. 2012 Jan 22;44(3):338-42. doi: 10.1038/ng.1084. Nat Genet. 2012. PMID: 22267198 Free article.
Cerebellar cleft: confirmation of the neuroimaging pattern.
Poretti A, Huisman TA, Cowan FM, Del Giudice E, Jeannet PY, Prayer D, Rutherford MA, du Plessis AJ, Limperopoulos C, Boltshauser E. Poretti A, et al. Among authors: jeannet py. Neuropediatrics. 2009 Oct;40(5):228-33. doi: 10.1055/s-0030-1248265. Epub 2010 Mar 10. Neuropediatrics. 2009. PMID: 20221959
Mutations in dynamin 2 cause dominant centronuclear myopathy.
Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Bitoun M, et al. Among authors: jeannet py. Nat Genet. 2005 Nov;37(11):1207-9. doi: 10.1038/ng1657. Epub 2005 Oct 16. Nat Genet. 2005. PMID: 16227997 Free article.
45 results