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Journal Abstract Search

354 related items for PubMed ID: 27455822

  • 1. Revised Ghent Criteria is Comparable to Original Diagnostic Criteria for Marfan Syndrome with Increased Ability to Clinically Diagnose Related Disorders.
    Penpattharakul W, Pithukpakorn M.
    J Med Assoc Thai; 2016 Jan; 99(1):34-9. PubMed ID: 27455822
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  • 2. A comparison of the Ghent and revised Ghent nosologies for the diagnosis of Marfan syndrome in an adult Korean population.
    Yang JH, Han H, Jang SY, Moon JR, Sung K, Chung TY, Lee HJ, Ki CS, Kim DK.
    Am J Med Genet A; 2012 May; 158A(5):989-95. PubMed ID: 22162372
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  • 3. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
    Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A.
    Arch Intern Med; 2001 Nov 12; 161(20):2447-54. PubMed ID: 11700157
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  • 4. The revised ghent nosology; reclassifying isolated ectopia lentis.
    Chandra A, Patel D, Aragon-Martin JA, Pinard A, Collod-Béroud G, Comeglio P, Boileau C, Faivre L, Charteris D, Child AH, Arno G.
    Clin Genet; 2015 Mar 12; 87(3):284-7. PubMed ID: 24635535
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  • 5. The new Ghent criteria for Marfan syndrome: what do they change?
    Faivre L, Collod-Beroud G, Adès L, Arbustini E, Child A, Callewaert BL, Loeys B, Binquet C, Gautier E, Mayer K, Arslan-Kirchner M, Grasso M, Beroud C, Hamroun D, Bonithon-Kopp C, Plauchu H, Robinson PN, De Backer J, Coucke P, Francke U, Bouchot O, Wolf JE, Stheneur C, Hanna N, Detaint D, De Paepe A, Boileau C, Jondeau G.
    Clin Genet; 2012 May 12; 81(5):433-42. PubMed ID: 21564093
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  • 6. The revised Ghent nosology for the Marfan syndrome.
    Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM.
    J Med Genet; 2010 Jul 12; 47(7):476-85. PubMed ID: 20591885
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  • 16. Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.
    Reyes-Hernández OD, Palacios-Reyes C, Chávez-Ocaña S, Cortés-Malagón EM, Alonso-Themann PG, Ramos-Cano V, Ramírez-Bello J, Sierra-Martínez M.
    BMC Musculoskelet Disord; 2016 Feb 15; 17():79. PubMed ID: 26875674
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  • 17. Novel FBN1 mutation causes Marfan syndrome with bilateral ectopia lentis and refractory glaucoma.
    Milla E, Leszczynska A, Rey A, Navarro M, Larena C.
    Eur J Ophthalmol; 2012 Feb 15; 22(4):667-9. PubMed ID: 22034023
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  • 19. Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
    Mannucci L, Luciano S, Salehi LB, Gigante L, Conte C, Longo G, Ferradini V, Piumelli N, Brancati F, Ruvolo G, Novelli G, Sangiuolo F.
    Clin Chim Acta; 2020 Feb 15; 501():154-164. PubMed ID: 31730815
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