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195 results
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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.
Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis.
Hennies HC, Raghunath M, Wiebe V, Vogel M, Velten F, Traupe H, Reis A. Hennies HC, et al. Among authors: raghunath m. Hum Genet. 1998 Mar;102(3):314-8. doi: 10.1007/s004390050697. Hum Genet. 1998. PMID: 9544844
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
A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.
Maslen C, Babcock D, Raghunath M, Steinmann B. Maslen C, et al. Among authors: raghunath m. Am J Hum Genet. 1997 Jun;60(6):1389-98. doi: 10.1086/515472. Am J Hum Genet. 1997. PMID: 9199560 Free PMC article.
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
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.
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
Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.
Raghunath M, Kielty CM, Kainulainen K, Child A, Peltonen L, Steinmann B. Raghunath M, et al. Biochem J. 1994 Sep 15;302 ( Pt 3)(Pt 3):889-96. doi: 10.1042/bj3020889. Biochem J. 1994. PMID: 7945217 Free PMC article.
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