Bateman JF - Search Results

1

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: bateman jf. Mamm Genome. 2007 Nov;18(11):808-14. doi: 10.1007/s00335-007-9066-9. Epub 2007 Oct 22. Mamm Genome. 2007. PMID: 17952705

2

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. Hum Mol Genet. 2003 Feb 1;12(3):217-25. doi: 10.1093/hmg/ddg054. Hum Mol Genet. 2003. PMID: 12554676

3

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

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

4

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. Hum Mutat. 2004 Apr;23(4):396. doi: 10.1002/humu.9222. Hum Mutat. 2004. PMID: 15024737

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: bateman jf. Am J Med Genet. 2000 Feb 28;90(5):398-406. Am J Med Genet. 2000. PMID: 10706362

6

Clinical phenotypes associated with type II collagen mutations.

Kannu P, Bateman J, Savarirayan R. Kannu P, et al. 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.

7

Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

Lamandé SR, Yuan Y, Gresshoff IL, Rowley L, Belluoccio D, Kaluarachchi K, Little CB, Botzenhart E, Zerres K, Amor DJ, Cole WG, Savarirayan R, McIntyre P, Bateman JF. Lamandé SR, et al. Among authors: bateman jf. Nat Genet. 2011 Oct 2;43(11):1142-6. doi: 10.1038/ng.945. Nat Genet. 2011. PMID: 21964574

8

Familial digital arthropathy-brachydactyly.

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

9

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: bateman jf. Arthritis Rheum. 2009 Feb;60(2):325-34. doi: 10.1002/art.24251. Arthritis Rheum. 2009. PMID: 19180483 Free article. Review. No abstract available.

10

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: bateman jf. Arthritis Rheum. 2010 May;62(5):1421-30. doi: 10.1002/art.27354. Arthritis Rheum. 2010. PMID: 20131279 Free article.

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