Activités de recherche

• Hervier E; Gorican K; Boudabbous S; Biver E; Ferrari S; Garibotto V; Mainta I. Unusual phosphaturic mesenchymal tumor mimicking osteoid osteoma. Osteoporosis International. Submitted : December 2022.
• Marini F, Giusti F, Marasco E, Xumerle L, Kwiatkowska K, Garagnani P, Biber E, Ferrari S, Iolascon G, Iantomasi T, Brandi ML. High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture.  Eur J Endocrinol. Accepted for publication: 22 December 2022.
• Trombetti A, Al-Daghri N, Brandi ML, Cannata-Andía JB, Cavalier E, Chandran M, Chaussain C, Cipullo L, Cooper C, Haffner D, Harvengt P, Harvey NC, Javaid MK, Jiwa F, Kanis JA, Laslop A, Laurent MR, Linglart A, Marques A, Mindler GT, Minisola S, Yerro MCP, Rosa MM, Seefried L, Vlaskovska M, Zanchetta MB, Rizzoli R. Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia. Nat Rev Endocrinol. 2022 Jun;18(6):366-384.
• Tsiantouli E, Biver E, Chevalley T, Petrovic R, Hannouche D, Ferrari S. Prevalence of Low Serum Alkaline Phosphatase and Hypophosphatasia in Adult Patients with Atypical Femur Fractures. Calcif Tissue Int. 2022 Jun;110(6):703-711.
• Fusaro M, Re Sartò GV, Gallieni M, Cosmai L, Messa P, Rossini M, Chiodini I, Plebani M, Evenepoel P, Harvey N, Ferrari S, Cannata-Andía J, Trombetti A, Brandi ML, Ketteler M, Nickolas TL, Cunningham J, Salam S, Della Rocca C, Scarpa A, Minisola S, Malberti F, Cetani F, Cozzolino M, Mazzaferro S, Morrone L, Tripepi G, Zaninotto M, Mereu MC, Ravera M, Cianciolo G, La Manna G, Aghi A, Giannini S, Dalle Carbonare L, On Behalf Of The Sin-Siommms Bone Biopsy Promoting Group. Time for Revival of Bone Biopsy with Histomorphometric Analysis in Chronic Kidney Disease (CKD): Moving from Skepticism to Pragmatism. Nutrients. 2022 Apr 22;14(9):1742.
• Harvey N, Brandi ML, Chandran M, Chapurlat R, Ferrari S, Javaid, K for the IOF Skeletal Rare Disease Academy. Tumor-Induced Osteomalacia (TIO) in adults 2022: key information and diagnostic algorithm. International Osteoporosis Foundation. 2022 Apr. 2022. www.osteoporosis.foundation.
• Jannelli G, Moiraghi A, Paun L, Tessitore E, Dayer R, Bartoli A. Severe Basilar impression in osteogenesis imperfecta treated with halo gravity traction, occipitocervicothoracic fusion, foramen magnum and upper cervical decompression and expansive duroplasty: a technical note. Childs Nerv Syst. 2022 May;38(5):991-995.
• Koy EHS, Amouzougan A, Biver E, Chapurlat R, Chevalley T, Ferrari SL, Fouilloux A, Locrelle H, Marotte H, Normand M, Rizzoli R, Vico L, Thomas T. Reference microarchitectural values measured by HR-pQCT in a Franco-Swiss cohort of young adult women. Osteoporos Int. 2022 Mar;33(3):703-709. Erratum in: Osteoporos Int. 2021 Nov 8;: PMID: 34642812.
• Bégin MJ, Audet MC, Chevalley T, Portela M, Padlina I, Hannouche D, Ing Lorenzini K, Meier R, Peter R, Uebelhart B, Rizzoli R, Ferrari S, Biver E. Fracture Risk Following an Atypical Femoral Fracture. J Bone Miner Res. 2022 Jan;37(1):87-94. 
• Marconi C, Lemmens L, Masclaux F, Mattioli F, Fluss J, Extermann P, Mendez P, Leuchter RH, Stathaki E, Laurent S, Hammar E, Vannier A, Varvagiannis K, Guipponi M, Sloan-Bena F, Blouin JL, Abramowicz M, Fokstuen S. Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis. Clin Genet. 2021 Sep;100(3):329-333. 
• Fahrni O, Wilhelm-Bals A, Posfay-Barbe KM, Wagner N. Hypovitaminosis D in migrant children in Switzerland: a retrospective study. Eur J Pediatr. 2021 Aug;180(8):2637-2644. doi: 10.1007/s00431-021-04143-7. Epub 2021 Jun 15.
• Pepe J, Body JJ, Hadji P, McCloskey E, Meier C, Obermayer-Pietsch B, Palermo A,  Tsourdi E,  Zillikens MC, Langdahl B, Ferrari S. Osteoporosis in Premenopausal Women: A Clinical Narrative Review by the ECTS and the IOF. J Clin Endocrinol Metab, August 2020, 105(8):2487–2506.
• Masi L, Ferrari S, Javaid MK, Papapoulos S, Pierroz DD, Brandi ML; IOF Skeletal Rare Diseases Working Group. Bone fragility in patients affected by congenital diseases non skeletal in origin. Orphanet J Rare Dis. 2021 Jan 6;16(1):11.
• Gonzalez Nguyen-Tang E, Parvex P, Goiscke Al, Wilhelm-Bals A. Carence en vitamine D et rachitisme : dépistage et traitement, aspects pratiques pour le clinicien. Rev Med Suisse 2019; 15 : 384-9. 
• Marcucci  G, Masi L, Ferrari S et al. Phosphate wasting disorders in adults. Osteoporos Int. 2018 Nov;29(11):2369-2387.
• Bruyère C, Garibotto V, Rougemont Al, Boudabbous S. Imaging pattern and histological features of Gorham-Stout Disease of the radius. Journal of Solid Tumors, 2018, Vol. 8, No. 2. 
• Hamard M, Martin SP, Boudabbous S. Retroodontoid Pseudotumor Related to Development of Myelopathy Secondary to Atlantoaxial Instability on Os Odontoideum. Case Rep Radiol. 2018 Sep 30;2018:1658129.
• Tsiantouli E, Trombetti A, Ferrari S. Hypophosphatasie de l’adulte. Rev Med Suisse 2017; 13: 1-4
• Trombetti A, Christ ER, Henzen C, Gold G, Brändle M, Herrmann FR, Torriani C, Triponez F,  Kraenzlin M, Rizzoli R, Meier C. Clinical presentation and management of patients with primary hyperparathyroidism of the Swiss Primary Hyperparathyroidism Cohort: a focus on neurobehavioural and cognitive symptoms. J Endocrinol Invest. 2016;39(5):567-76.
• Masi L,  Agnusdei D, Bilezikian J,  Chappard D, Chapurlat R, Cianferotti L,  Devolgelaer JP, El Maghraoui A,  Ferrari S et al. Taxonomy of rare genetic metabolic bone disorders. Osteoporos Int. 2015 Oct;26(10):2529-58. 
• Trombetti A, Cortes F, Kaelin A, Morris M, Rizzoli R. Intranasal calcitonin reducing bone pain in a patient with Camurati-Engelmann disease. Scand J Rheumatol. 2012;41:75-7. 
• Wilhelm-Bals A, Parvex P, Magdelaine C and Girardin E. Successful Use of Bisphosphonate and Calcimimetic in Neonatal Severe Primary Hyperparathyroidism. Pediatrics 2012;129;e812
• Tonson la Tour A, Wilhelm-Bals A, Gonzalez Nguyen Tang E, Girardin E. Le point sur la vitamine D. Pediatrica 2012. 23 (4) : 18-21.
• Richert L, Trombetti A, Herrmann FR, Triponez F, Meier C, Robert JH, Rizzoli, R. Age and gender distribution of primary hyperparathyroidism and incidence of surgical treatment in a European country with a particularly high life expectancy. Swiss Med Wkly. 2009;139:400-4.
• Tessitore E, Luzi M, Lobrinus JA, Samaras N, Trombetti A. Cervical Paget disease of bone with spinal cord compression due to atlanto-axial instability: a case report and review of the literature. Spine (Phila Pa 1976). 2008;33:E85-9.
• Robert JH, Trombetti A, Garcia A, Pache J-C, Herrmann F, Spiliopoulos A and Rizzoli R. Primary hyperparathyroidism: can parathyroid carcinoma be anticipated on clinical and biochemical grounds? Report of nine cases and review of the literature. Ann Surg Oncol 2005;12:526-532.
• Trombetti A, Bottani A, George F and Rizzoli R. Hypoparathyroidism associated with aneurysm of the left subclavian artery (Kommerell's Diverticulum) in an adult patient with a chromosome 22q11.2 deletion. J Bone Miner Res. 2001;6:1926-1928. 
• Trombetti A, Arlot M, Thevenon J, Uebelhart B and Meunier PJ. a) Effect of multiple intravenous pamidronate courses in Paget’s disease of bone. Rev. Rhum. Engl. Ed. (Joint Bone Spine) 1999;66:467-476. b) Effets des cures répétées de pamidronate intraveineux dans la maladie osseuse de Paget. Rev Rhum. 1999;66:536-545.

• Bone Biopsy for Histomorphometric Analysis: A Single-Center Experience (Principal investigator : Prof A. Trombetti)
• Improving individual fracture risk prediction in osteogenesis imperfecta: an in-tegrated multi-omics, materials science, and computational modeling approach (project FRAC-OI, call: SFA PHRT iDoc) (Principal investigator : Prof P. Zysset)
• Implication of PDGF/PDGF receptor signaling in fibrous dysplasia: From pathophysiology to potential treatment and biomarker (Principal investigator: Cyril Thouverey).
  Grants/Awards: Fondation pour la Recherche sur l'Ostéoporose et les Maladies Osseuses (FROMO): 50'000 CHF / American Society for Bone and Mineral Research FIRST Award 2020: 60'000 US$
• Anti-sclerostin antibodies and Intermittent PTH increase bone mass and strength in a mouse model of Type VI Osteogenesis Imperfecta (Principal investigator: Prof. S. Ferrari). 
  Grants/Awards: Fonds National Suisse

• XLH Registry KKI “An international, multicentre, prospective, non-interventional observational registry for patients with X-linked hypophosphatemia” (Principal investigator – HUG : Prof A. Trombetti)

Coordinateur recherche et projets du SG-BOND (Prof A. Trombetti)
Membre du comité scientifique de la Skeletal Rare Disease academy de l’International Osteoporosis Foundation (Prof S. Ferrari)