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2002 1
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137 results

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Page 1
The 2017 international classification of the Ehlers-Danlos syndromes.
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. Malfait F, et al. Among authors: colombi m. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306229
Ehlers-Danlos syndrome, classical type.
Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA. Bowen JM, et al. Among authors: colombi m. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):27-39. doi: 10.1002/ajmg.c.31548. Epub 2017 Feb 13. Am J Med Genet C Semin Med Genet. 2017. PMID: 28192633 Free article. Review.
Bridging the Diagnostic Gap for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker.
Ritelli M, Chiarelli N, Cinquina V, Bertini V, Piantoni S, Caproli A, Della Pina SEL, Franceschini F, Zarattini G, Gandy W, Venturini M, Zoppi N, Colombi M. Ritelli M, et al. Among authors: colombi m. Am J Med Genet A. 2025 Jan;197(1):e63857. doi: 10.1002/ajmg.a.63857. Epub 2024 Sep 3. Am J Med Genet A. 2025. PMID: 39225014
Burden of Modifiable Risk Factors in Young-Onset Cryptogenic Ischemic Stroke by High-Risk Patent Foramen Ovale.
Putaala J, Martinez-Majander N, Leppert M, Tulkki L, Pirinen J, Tolppanen H, Sarkanen T, Virtanen M, Jaakonmäki N, Jäkälä P, Hedman M, Redfors P, Bech-Hanssen O, Junttola U, Huhtakangas J, Ylikotila P, Lautamäki R, Schminke U, von Sarnowski B, Busch R, Yesilot N, Sezgin M, Waje-Andreassen U, Saeed S, Fonseca AC, Paula A, Amaya Pascasio L, Martínez-Sánchez P, Kõrv J, Muda P, Ferdinand P, Oxley C, Zakarkaitė D, Ryliškienė K, Pezzini A, Lombardi CM, Líčeník R, Zedde M, Grimaldi T, Tsivgoulis G, Sinisalo J, Gerdts E, Tatlisumak T; SECRETO Study Group. Putaala J, et al. Stroke. 2025 Jun;56(6):1428-1440. doi: 10.1161/STROKEAHA.124.049855. Epub 2025 Apr 17. Stroke. 2025. PMID: 40242852 Free PMC article.
Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.
Green CE, Albaba S, Sobey GJ, Bowen JM, Donnelly DE, Colombi M, Ritelli M, Melville A, Ghali N, van Dijk FS, Hobson E, Radley JA, Kinning E, Dixit A, McCullough S, Baker D, Johnson DS. Green CE, et al. Among authors: colombi m. Eur J Hum Genet. 2025 Oct;33(10):1309-1315. doi: 10.1038/s41431-025-01849-2. Epub 2025 Apr 17. Eur J Hum Genet. 2025. PMID: 40247137 Review.
Short-term pulse pressure variability: a novel prognostic marker and therapeutic target in patients with vascular Ehlers-Danlos syndrome? Preliminary results from a pilot study.
Buso G, Gatta R, Corvini F, Laera N, Agabiti-Rosei C, Paini A, Bulgari G, Petroboni B, Bertacchini F, Aggiusti C, Stassaldi D, Capellini S, Salvetti M, De Ciuceis C, Ritelli M, Venturini M, Colombi M, Muiesan ML. Buso G, et al. Among authors: colombi m. Hypertens Res. 2025 Apr;48(4):1529-1541. doi: 10.1038/s41440-025-02135-w. Epub 2025 Feb 14. Hypertens Res. 2025. PMID: 39953236
137 results