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Page 1
Identification of potential non-invasive biomarkers in diastrophic dysplasia.
Paganini C, Carroll RS, Gramegna Tota C, Schelhaas AJ, Leone A, Duker AL, O'Connell DA, Coghlan RF, Johnstone B, Ferreira CR, Peressini S, Albertini R, Forlino A, Bonafé L, Campos-Xavier AB, Superti-Furga A, Zankl A, Rossi A, Bober MB. Paganini C, et al. Among authors: bonafe l. Bone. 2023 Oct;175:116838. doi: 10.1016/j.bone.2023.116838. Epub 2023 Jul 16. Bone. 2023. PMID: 37454964 Free article.
Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia.
Rivera-Vargas J, Superti-Furga A, Bonafé L, Peña-Padilla C, Cortés-Pastrana RC, Bobadilla-Morales L, Corona-Rivera A, Corona-Rivera JR. Rivera-Vargas J, et al. Among authors: bonafe l. Clin Dysmorphol. 2023 Jan 1;32(1):14-17. doi: 10.1097/MCD.0000000000000432. Epub 2022 Sep 12. Clin Dysmorphol. 2023. PMID: 36503918 No abstract available.
Endovascular treatment for acute ischemic stroke at a primary stroke center: First results of the Perpignan center.
Sablot D, Farouil G, Leibinger F, Van Damme L, Aptel S, Fadat B, Tardieu M, Dutray A, Gascou G, Olivier N, Seiller I, Nguyen Them L, Smadja P, Ibanez-Julia MJ, Arquizan C, Mas J, Jurici S, Dumitrana A, Ferraro A, Costalat V, Bonafe L. Sablot D, et al. Among authors: bonafe l. Rev Neurol (Paris). 2022 Apr;178(4):377-384. doi: 10.1016/j.neurol.2021.05.006. Epub 2021 Sep 20. Rev Neurol (Paris). 2022. PMID: 34556344
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Allou L, Balzano S, Magg A, Quinodoz M, Royer-Bertrand B, Schöpflin R, Chan WL, Speck-Martins CE, Carvalho DR, Farage L, Lourenço CM, Albuquerque R, Rajagopal S, Nampoothiri S, Campos-Xavier B, Chiesa C, Niel-Bütschi F, Wittler L, Timmermann B, Spielmann M, Robson MI, Ringel A, Heinrich V, Cova G, Andrey G, Prada-Medina CA, Pescini-Gobert R, Unger S, Bonafé L, Grote P, Rivolta C, Mundlos S, Superti-Furga A. Allou L, et al. Among authors: bonafe l. Nature. 2021 Apr;592(7852):93-98. doi: 10.1038/s41586-021-03208-9. Epub 2021 Feb 10. Nature. 2021. PMID: 33568816
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Botto LD, Meeths M, Campos-Xavier B, Bergamaschi R, Mazzanti L, Scarano E, Finocchi A, Cancrini C, Zirn B, Kühnle I, Kramm CM, Alanay Y, Jones WD, Irving M, Sabir A, Henter JI, Borgström B, Nordgren A, Hammarsjö A, Putti C, Mozzato C, Zuccarello D, Nishimura G, Bonafè L, Grigelioniene G, Unger S, Superti-Furga A. Botto LD, et al. Among authors: bonafe l. Am J Med Genet A. 2021 Feb;185(2):517-527. doi: 10.1002/ajmg.a.62021. Epub 2021 Jan 4. Am J Med Genet A. 2021. PMID: 33398909
Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual.
Voinea C, Gonzalez Rodriguez E, Beigelman-Aubry C, Leroy V, Aubry-Rozier B, Campos-Xavier B, Ballhausen D, Lazor R, Barbey F, Bonafé L, Superti-Furga A, Tran C. Voinea C, et al. Among authors: bonafe l. J Bone Miner Metab. 2019 Mar;37(2):378-383. doi: 10.1007/s00774-018-0932-1. Epub 2018 Jun 14. J Bone Miner Metab. 2019. PMID: 29948344
131 results