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Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes.
Boileau C, Jondeau G, Babron MC, Coulon M, Alexandre JA, Sakai L, Melki J, Delorme G, Dubourg O, Bonaïti-Pellié C, et al. Boileau C, et al. Among authors: sakai l. Am J Hum Genet. 1993 Jul;53(1):46-54. Am J Hum Genet. 1993. PMID: 8317497 Free PMC article.
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. Kainulainen K, et al. Among authors: sakai l. Nat Genet. 1994 Jan;6(1):64-9. doi: 10.1038/ng0194-64. Nat Genet. 1994. PMID: 8136837
Marfan's syndrome and other microfibrillar diseases.
Dietz HC, Ramirez F, Sakai LY. Dietz HC, et al. Among authors: sakai ly. Adv Hum Genet. 1994;22:153-86. doi: 10.1007/978-1-4757-9062-7_4. Adv Hum Genet. 1994. PMID: 7762452 Review. No abstract available.
Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome.
Pereira L, Andrikopoulos K, Tian J, Lee SY, Keene DR, Ono R, Reinhardt DP, Sakai LY, Biery NJ, Bunton T, Dietz HC, Ramirez F. Pereira L, et al. Among authors: sakai ly. Nat Genet. 1997 Oct;17(2):218-22. doi: 10.1038/ng1097-218. Nat Genet. 1997. PMID: 9326947
The structure and function of fibrillin.
Reinhardt DP, Chalberg SC, Sakai LY. Reinhardt DP, et al. Among authors: sakai ly. Ciba Found Symp. 1995;192:128-43; discussion 143-7. doi: 10.1002/9780470514771.ch7. Ciba Found Symp. 1995. PMID: 8575254 Review.
Abnormal fibrillin metabolism in bovine Marfan syndrome.
Potter KA, Hoffman Y, Sakai LY, Byers PH, Besser TE, Milewicz DM. Potter KA, et al. Among authors: sakai ly. Am J Pathol. 1993 Mar;142(3):803-10. Am J Pathol. 1993. PMID: 8456941 Free PMC article.
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.
Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, et al. Dietz HC, et al. Among authors: sakai ly. Nature. 1991 Jul 25;352(6333):337-9. doi: 10.1038/352337a0. Nature. 1991. PMID: 1852208
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.
Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ Jr, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR. Dietz HC, et al. Among authors: sakai ly. J Clin Invest. 1992 May;89(5):1674-80. doi: 10.1172/JCI115766. J Clin Invest. 1992. PMID: 1569206 Free PMC article.
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.
Kainulainen K, Sakai LY, Child A, Pope FM, Puhakka L, Ryhänen L, Palotie A, Kaitila I, Peltonen L. Kainulainen K, et al. Among authors: sakai ly. Proc Natl Acad Sci U S A. 1992 Jul 1;89(13):5917-21. doi: 10.1073/pnas.89.13.5917. Proc Natl Acad Sci U S A. 1992. PMID: 1631074 Free PMC article.
Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1.
Magenis RE, Maslen CL, Smith L, Allen L, Sakai LY. Magenis RE, et al. Among authors: sakai ly. Genomics. 1991 Oct;11(2):346-51. doi: 10.1016/0888-7543(91)90142-2. Genomics. 1991. PMID: 1769651
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