Bateman JF - Search Results

1

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

Miller KA, Tan TY, Welfare MF, White SM, Stark Z, Savarirayan R, Burgess T, Heggie AA, Caruana G, Bertram JF, Bateman JF, Farlie PG. Miller KA, et al. Among authors: bateman jf. Mol Syndromol. 2014 Dec;5(6):276-86. doi: 10.1159/000368865. Epub 2014 Nov 8. Mol Syndromol. 2014. PMID: 25565927 Free PMC article.

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: bateman jf. 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: 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

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

5

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

6

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

7

The extracellular matrix protein WARP is a novel component of a distinct subset of basement membranes.

Allen JM, Brachvogel B, Farlie PG, Fitzgerald J, Bateman JF. Allen JM, et al. Among authors: bateman jf. Matrix Biol. 2008 May;27(4):295-305. doi: 10.1016/j.matbio.2008.01.005. Epub 2008 Jan 30. Matrix Biol. 2008. PMID: 18314316

8

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.

9

Global comparative transcriptome analysis of cartilage formation in vivo.

Cameron TL, Belluoccio D, Farlie PG, Brachvogel B, Bateman JF. Cameron TL, et al. Among authors: bateman jf. BMC Dev Biol. 2009 Mar 10;9:20. doi: 10.1186/1471-213X-9-20. BMC Dev Biol. 2009. PMID: 19272164 Free PMC article.

10

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.

Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxová A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafé L. Campos-Xavier AB, et al. Am J Hum Genet. 2009 Jun;84(6):760-70. doi: 10.1016/j.ajhg.2009.05.002. Epub 2009 May 28. Am J Hum Genet. 2009. PMID: 19481194 Free PMC article.

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