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Truncated profibrillin of a Marfan patient is of apparent similar size as fibrillin: intracellular retention leads to over-N-glycosylation.
Raghunath M, Kielty CM, Steinmann B. Raghunath M, et al. J Mol Biol. 1995 May 19;248(5):901-9. doi: 10.1006/jmbi.1995.0270. J Mol Biol. 1995. PMID: 7760331
Carboxy-terminal conversion of profibrillin to fibrillin at a basic site by PACE/furin-like activity required for incorporation in the matrix.
Raghunath M, Putnam EA, Ritty T, Hamstra D, Park ES, Tschödrich-Rotter M, Peters R, Rehemtulla A, Milewicz DM. Raghunath M, et al. J Cell Sci. 1999 Apr;112 ( Pt 7):1093-100. J Cell Sci. 1999. PMID: 10198291
A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome.
Lönnqvist L, Karttunen L, Rantamäki T, Kielty C, Raghunath M, Peltonen L. Lönnqvist L, et al. Among authors: raghunath m. Genomics. 1996 Sep 15;36(3):468-75. doi: 10.1006/geno.1996.0492. Genomics. 1996. PMID: 8884270
The Tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils.
Kielty CM, Raghunath M, Siracusa LD, Sherratt MJ, Peters R, Shuttleworth CA, Jimenez SA. Kielty CM, et al. Among authors: raghunath m. J Cell Biol. 1998 Mar 9;140(5):1159-66. doi: 10.1083/jcb.140.5.1159. J Cell Biol. 1998. PMID: 9490728 Free PMC article.
[Marfan syndrome: diagnosis of cardiovascular manifestations].
von Kodolitsch Y, Raghunath M, Dieckmann C, Nienaber CA. von Kodolitsch Y, et al. Among authors: raghunath m. Z Kardiol. 1998 Mar;87(3):161-72. doi: 10.1007/s003920050168. Z Kardiol. 1998. PMID: 9586151 Review. German.
Prenatal diagnosis of Marfan syndrome: identification of a fibrillin-1 mutation in chorionic villus sample.
Rantamäki T, Raghunath M, Karttunen L, Lönnqvist L, Child A, Peltonen L. Rantamäki T, et al. Among authors: raghunath m. Prenat Diagn. 1995 Dec;15(12):1176-81. doi: 10.1002/pd.1970151217. Prenat Diagn. 1995. PMID: 8750301
Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts.
Raghunath M, Superti-Furga A, Godfrey M, Steinmann B. Raghunath M, et al. Hum Genet. 1993 Jan;90(5):511-5. doi: 10.1007/BF00217450. Hum Genet. 1993. PMID: 8428751
A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.
Karttunen L, Raghunath M, Lönnqvist L, Peltonen L. Karttunen L, et al. Among authors: raghunath m. Am J Hum Genet. 1994 Dec;55(6):1083-91. Am J Hum Genet. 1994. PMID: 7977366 Free PMC article.
Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome.
Godfrey M, Raghunath M, Cisler J, Bevins CL, DePaepe A, Di Rocco M, Gregoritch J, Imaizumi K, Kaplan P, Kuroki Y, et al. Godfrey M, et al. Among authors: raghunath m. Am J Pathol. 1995 Jun;146(6):1414-21. Am J Pathol. 1995. PMID: 7778680 Free PMC article.
Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome.
Superti-Furga A, Raghunath M, Willems PJ. Superti-Furga A, et al. Among authors: raghunath m. J Med Genet. 1992 Dec;29(12):875-8. doi: 10.1136/jmg.29.12.875. J Med Genet. 1992. PMID: 1479602 Free PMC article.
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