Savarirayan R - Search Results

1

Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia.

James PA, Shaw J, du Sart D, Craig E, Bateman JF, Savarirayan R. James PA, et al. Among authors: savarirayan r. Prenat Diagn. 2003 Oct;23(10):861-3. doi: 10.1002/pd.692. Prenat Diagn. 2003. PMID: 14558035 No abstract available.

2

Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis.

Kannu P, Bateman JF, Belluoccio D, Fosang AJ, Savarirayan R. Kannu P, et al. Among authors: savarirayan r. Arthritis Rheum. 2009 Feb;60(2):325-34. doi: 10.1002/art.24251. Arthritis Rheum. 2009. PMID: 19180483 Free article. Review. No abstract available.

3

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

Bateman JF, Wilson R, Freddi S, Lamandé SR, Savarirayan R. Bateman JF, et al. Among authors: savarirayan r. Hum Mutat. 2005 Jun;25(6):525-34. doi: 10.1002/humu.20183. Hum Mutat. 2005. PMID: 15880705

4

Clinical phenotypes associated with type II collagen mutations.

Kannu P, Bateman J, Savarirayan R. Kannu P, et al. Among authors: savarirayan r. J Paediatr Child Health. 2012 Feb;48(2):E38-43. doi: 10.1111/j.1440-1754.2010.01979.x. Epub 2011 Feb 18. J Paediatr Child Health. 2012. PMID: 21332586 Review.

5

Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability.

Freddi S, Savarirayan R, Bateman JF. Freddi S, et al. Among authors: savarirayan r. Am J Med Genet. 2000 Feb 28;90(5):398-406. Am J Med Genet. 2000. PMID: 10706362

6

Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly.

Bateman JF, Freddi S, McNeil R, Thompson E, Hermanns P, Savarirayan R, Lamandé SR. Bateman JF, et al. Among authors: savarirayan r. Hum Mutat. 2004 Apr;23(4):396. doi: 10.1002/humu.9222. Hum Mutat. 2004. PMID: 15024737

7

Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage.

Bateman JF, Freddi S, Nattrass G, Savarirayan R. Bateman JF, et al. Among authors: savarirayan r. Hum Mol Genet. 2003 Feb 1;12(3):217-25. doi: 10.1093/hmg/ddg054. Hum Mol Genet. 2003. PMID: 12554676

8

Premature arthritis is a distinct type II collagen phenotype.

Kannu P, Bateman JF, Randle S, Cowie S, du Sart D, McGrath S, Edwards M, Savarirayan R. Kannu P, et al. Among authors: savarirayan r. Arthritis Rheum. 2010 May;62(5):1421-30. doi: 10.1002/art.27354. Arthritis Rheum. 2010. PMID: 20131279 Free article.

9

Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.

Cavanagh JA, Tammen I, Windsor PA, Bateman JF, Savarirayan R, Nicholas FW, Raadsma HW. Cavanagh JA, et al. Among authors: savarirayan r. Mamm Genome. 2007 Nov;18(11):808-14. doi: 10.1007/s00335-007-9066-9. Epub 2007 Oct 22. Mamm Genome. 2007. PMID: 17952705

10

Familial digital arthropathy-brachydactyly.

Amor DJ, Tudball C, Gardner RJ, Lamandé SR, Bateman JF, Savarirayan R. Amor DJ, et al. Among authors: savarirayan r. Am J Med Genet. 2002 Mar 15;108(3):235-40. doi: 10.1002/ajmg.10269. Am J Med Genet. 2002. PMID: 11891693

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