Raghunath M - Search Results

1

An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta.

Superti-Furga A, Raghunath M, Pistone FM, Romano C, Steinmann B. Superti-Furga A, et al. Among authors: raghunath m. Connect Tissue Res. 1993;29(1):31-40. doi: 10.3109/03008209309061964. Connect Tissue Res. 1993. PMID: 8339544

2

Delayed triple helix formation of mutant collagen from patients with osteogenesis imperfecta.

Raghunath M, Bruckner P, Steinmann B. Raghunath M, et al. J Mol Biol. 1994 Feb 25;236(3):940-9. doi: 10.1006/jmbi.1994.1199. J Mol Biol. 1994. PMID: 8114103

3

Mild dental findings associated with severe osteogenesis imperfecta due to a point mutation in the alpha 2(I) collagen gene demonstrate different expression of the genetic defect in bone and teeth.

Luder HU, van Waes H, Raghunath M, Steinmann B. Luder HU, et al. Among authors: raghunath m. J Craniofac Genet Dev Biol. 1996 Jul-Sep;16(3):156-63. J Craniofac Genet Dev Biol. 1996. PMID: 8872706

4

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.

5

Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsies.

Raghunath M, Steinmann B, Delozier-Blanchet C, Extermann P, Superti-Furga A. Raghunath M, et al. Pediatr Res. 1994 Oct;36(4):441-8. doi: 10.1203/00006450-199410000-00005. Pediatr Res. 1994. PMID: 7816518 Clinical Trial.

6

Intracellular accumulation of collagen VII in cultured keratinocytes from a patient with dominant dystrophic epidermolysis bullosa.

König A, Raghunath M, Steinmann B, Bruckner-Tuderman L. König A, et al. Among authors: raghunath m. J Invest Dermatol. 1994 Jan;102(1):105-10. doi: 10.1111/1523-1747.ep12371741. J Invest Dermatol. 1994. PMID: 8288900 Free article.

7

Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.

Giunta C, Nuytinck L, Raghunath M, Hausser I, De Paepe A, Steinmann B. Giunta C, et al. Among authors: raghunath m. Am J Med Genet. 2002 May 15;109(4):284-90. doi: 10.1002/ajmg.10373. Am J Med Genet. 2002. PMID: 11992482

8

Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation.

Raghunath M, Mackay K, Dalgleish R, Steinmann B. Raghunath M, et al. Eur J Pediatr. 1995 Feb;154(2):123-9. doi: 10.1007/BF01991915. Eur J Pediatr. 1995. PMID: 7720740

9

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

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

212 results

Search Page

Filters