Savarirayan R - Search Results

1

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.

2

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

3

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

4

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

5

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.

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

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

8

Medial temporal lobe dysgenesis in hypochondroplasia.

Kannu P, Hayes IM, Mandelstam S, Donnan L, Savarirayan R. Kannu P, et al. Among authors: savarirayan r. Am J Med Genet A. 2005 Nov 1;138(4):389-91. doi: 10.1002/ajmg.a.30974. Am J Med Genet A. 2005. PMID: 16222682

9

Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome.

Kannu P, Savarirayan R, Ozoemena L, White SM, McGrath JA. Kannu P, et al. Among authors: savarirayan r. Am J Med Genet A. 2006 Apr 15;140(8):887-91. doi: 10.1002/ajmg.a.31187. Am J Med Genet A. 2006. PMID: 16532463

10

Lethal metatropic dysplasia: a case report.

Kumar B, Kannu P, Savarirayan R, Chan Y. Kumar B, et al. Among authors: savarirayan r. Pathology. 2007 Feb;39(1):177-81. doi: 10.1080/00313020601123854. Pathology. 2007. PMID: 17365839 No abstract available.

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