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1999 2
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123 results

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Page 1
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.
Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, Deslandres E, Kasthuri RS, Lausman A, Poetker D, Ratjen F, Chesnutt MS, Clancy M, Whitehead KJ, Al-Samkari H, Chakinala M, Conrad M, Cortes D, Crocione C, Darling J, de Gussem E, Derksen C, Dupuis-Girod S, Foy P, Geisthoff U, Gossage JR, Hammill A, Heimdal K, Henderson K, Iyer VN, Kjeldsen AD, Komiyama M, Korenblatt K, McDonald J, McMahon J, McWilliams J, Meek ME, Mei-Zahav M, Olitsky S, Palmer S, Pantalone R, Piccirillo JF, Plahn B, Porteous MEM, Post MC, Radovanovic I, Rochon PJ, Rodriguez-Lopez J, Sabba C, Serra M, Shovlin C, Sprecher D, White AJ, Winship I, Zarrabeitia R. Faughnan ME, et al. Ann Intern Med. 2020 Dec 15;173(12):989-1001. doi: 10.7326/M20-1443. Epub 2020 Sep 8. Ann Intern Med. 2020. PMID: 32894695 Free article.
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.
Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K, Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R; HHT Foundation International - Guidelines Working Group. Faughnan ME, et al. J Med Genet. 2011 Feb;48(2):73-87. doi: 10.1136/jmg.2009.069013. Epub 2009 Jun 23. J Med Genet. 2011. PMID: 19553198 Free article.
Genotype-Phenotype Correlations in Children with HHT.
Kilian A, Latino GA, White AJ, Clark D, Chakinala MM, Ratjen F, McDonald J, Whitehead K, Gossage JR, Lin D, Henderson K, Pollak J, McWilliams JP, Kim H, Lawton MT, Faughnan ME; the Brain Vascular Malformation Consortium HHT Investigator Group. Kilian A, et al. Among authors: faughnan me. J Clin Med. 2020 Aug 22;9(9):2714. doi: 10.3390/jcm9092714. J Clin Med. 2020. PMID: 32842615 Free PMC article.
De Novo Brain Vascular Malformations in Hereditary Hemorrhagic Telangiectasia.
Beslow LA, Krings T, Kim H, Hetts SW, Lawton MT, Ratjen F, Whitehead KJ, Gossage JR, McCulloch CE, Clancy M, Bagheri N, Faughnan ME; Brain Vascular Malformation Consortium HHT Investigator Group. Beslow LA, et al. Among authors: faughnan me. Pediatr Neurol. 2024 Jun;155:120-125. doi: 10.1016/j.pediatrneurol.2024.03.013. Epub 2024 Mar 22. Pediatr Neurol. 2024. PMID: 38631080
Brain AVM compactness score in children with hereditary hemorrhagic telangiectasia.
Beslow LA, Vossough A, Kim H, Nelson J, Lawton MT, Pollak J, Lin DDM, Ratjen F, Hammill AM, Hetts SW, Gossage JR, Whitehead KJ, Faughnan ME, Krings T; Brain Vascular Malformation Consortium HHT Investigator Group. Beslow LA, et al. Among authors: faughnan me. Childs Nerv Syst. 2024 Jul;40(7):2101-2108. doi: 10.1007/s00381-024-06366-z. Epub 2024 Mar 22. Childs Nerv Syst. 2024. PMID: 38517485
Alternative designs for clinical trials in rare diseases.
Abrahamyan L, Feldman BM, Tomlinson G, Faughnan ME, Johnson SR, Diamond IR, Gupta S. Abrahamyan L, et al. Among authors: faughnan me. Am J Med Genet C Semin Med Genet. 2016 Dec;172(4):313-331. doi: 10.1002/ajmg.c.31533. Epub 2016 Nov 14. Am J Med Genet C Semin Med Genet. 2016. PMID: 27862920 Review.
Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis.
DeBose-Scarlett E, Ressler AK, Gallione CJ, Sapisochin Cantis G, Friday C, Weinsheimer S, Schimmel K, Spiekerkoetter E, Kim H, Gossage JR, Faughnan ME, Marchuk DA. DeBose-Scarlett E, et al. Among authors: faughnan me. Am J Hum Genet. 2024 Oct 3;111(10):2283-2298. doi: 10.1016/j.ajhg.2024.08.020. Epub 2024 Sep 18. Am J Hum Genet. 2024. PMID: 39299239
123 results