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

Year Number of Results
1947 1
1993 4
1996 1
1998 3
1999 1
2000 2
2001 6
2002 6
2003 7
2004 6
2005 9
2006 4
2007 4
2008 9
2009 6
2010 11
2011 14
2012 9
2013 8
2014 12
2015 10
2016 9
2017 6
2018 3
2019 1
2020 1
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128 results
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Page 1
Nosology and classification of genetic skeletal disorders: 2015 revision.
Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, Nishimura G, Sangiorgi L, Savarirayan R, Sillence D, Spranger J, Superti-Furga A, Warman M, Unger S. Bonafe L, et al. Am J Med Genet A. 2015 Dec;167A(12):2869-92. doi: 10.1002/ajmg.a.37365. Epub 2015 Sep 23. Am J Med Genet A. 2015. PMID: 26394607
Current Care and Investigational Therapies in Achondroplasia.
Unger S, Bonafé L, Gouze E. Unger S, et al. Among authors: bonafe l. Curr Osteoporos Rep. 2017 Apr;15(2):53-60. doi: 10.1007/s11914-017-0347-2. Curr Osteoporos Rep. 2017. PMID: 28224446 Free PMC article. Review.
Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives.
Bregou Bourgeois A, Aubry-Rozier B, Bonafé L, Laurent-Applegate L, Pioletti DP, Zambelli PY. Bregou Bourgeois A, et al. Among authors: bonafe l. Swiss Med Wkly. 2016 Jun 20;146:w14322. doi: 10.4414/smw.2016.14322. eCollection 2016. Swiss Med Wkly. 2016. PMID: 27346233 Free article.
NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
van Karnebeek CD, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier-Daire V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LA, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heise T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A. van Karnebeek CD, et al. Among authors: bonafe l. Nat Genet. 2016 Jul;48(7):777-84. doi: 10.1038/ng.3578. Epub 2016 May 23. Nat Genet. 2016. PMID: 27213289 Free article.
Diastrophic Dysplasia.
Bonafé L, Mittaz-Crettol L, Ballhausen D, Superti-Furga A. Bonafé L, et al. 2004 Nov 15 [updated 2013 Jul 18]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 20301524 Free Books & Documents. Review.
Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose?
Debray FG, Damjanovic K, Rosset R, Mittaz-Crettol L, Roux C, Braissant O, Barbey F, Bonafé L, De Bandt JP, Tappy L, Paquot N, Tran C. Debray FG, et al. Among authors: bonafe l. Am J Clin Nutr. 2018 Aug 1;108(2):292-299. doi: 10.1093/ajcn/nqy092. Am J Clin Nutr. 2018. PMID: 29955837 Free article. Clinical Trial.
Glypican-6 promotes the growth of developing long bones by stimulating Hedgehog signaling.
Capurro M, Izumikawa T, Suarez P, Shi W, Cydzik M, Kaneiwa T, Gariepy J, Bonafe L, Filmus J. Capurro M, et al. Among authors: bonafe l. J Cell Biol. 2017 Sep 4;216(9):2911-2926. doi: 10.1083/jcb.201605119. Epub 2017 Jul 10. J Cell Biol. 2017. PMID: 28696225 Free PMC article.
FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
Unger S, Górna MW, Le Béchec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafé L, Superti-Furga G, Stevenson B, Superti-Furga A. Unger S, et al. Among authors: bonafe l. Am J Hum Genet. 2013 Jun 6;92(6):990-5. doi: 10.1016/j.ajhg.2013.04.020. Epub 2013 May 16. Am J Hum Genet. 2013. PMID: 23684011 Free PMC article.
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
Dikoglu E, Alfaiz A, Gorna M, Bertola D, Chae JH, Cho TJ, Derbent M, Alanay Y, Guran T, Kim OH, Llerenar JC Jr, Yamamoto G, Superti-Furga G, Reymond A, Xenarios I, Stevenson B, Campos-Xavier B, Bonafé L, Superti-Furga A, Unger S. Dikoglu E, et al. Among authors: bonafe l. Am J Med Genet A. 2015 Jul;167(7):1501-9. doi: 10.1002/ajmg.a.37029. Epub 2015 Mar 21. Am J Med Genet A. 2015. PMID: 25808063
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management.
Tran C, Bonafé L, Nuoffer JM, Rieger J, Berger MM. Tran C, et al. Among authors: bonafe l. Clin Nutr. 2018 Aug;37(4):1114-1120. doi: 10.1016/j.clnu.2017.07.013. Epub 2017 Jul 25. Clin Nutr. 2018. PMID: 28779878 Review.
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