Bateman JF - Search Results

1

Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome.

Adès LC, Morris LL, Power RG, Wilson M, Haan EA, Bateman JF, Milewicz DM, Sillence DO. Adès LC, et al. Among authors: bateman jf. Am J Med Genet. 1995 Jul 17;57(4):565-72. doi: 10.1002/ajmg.1320570410. Am J Med Genet. 1995. PMID: 7573130 Review.

2

The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix.

Cole WG, Chow CW, Bateman JF, Sillence DO. Cole WG, et al. Among authors: bateman jf. J Med Genet. 1996 Nov;33(11):965-7. doi: 10.1136/jmg.33.11.965. J Med Genet. 1996. PMID: 8950680 Free PMC article.

3

Clinicopathologic findings in congenital aneurysms of the great vessels.

Adès LC, Knight WB, Byard RW, Bateman JF, Esquivel JA, Mee RB, Haan EA, Milewicz DM. Adès LC, et al. Among authors: bateman jf. Am J Med Genet. 1996 Dec 18;66(3):289-99. doi: 10.1002/(SICI)1096-8628(19961218)66:3<289::AID-AJMG11>3.0.CO;2-I. Am J Med Genet. 1996. PMID: 8985490 Review.

4

Myocardial infarction resulting from coronary artery dissection in an adolescent with Ehlers-Danlos syndrome type IV due to a type III collagen mutation.

Adès LC, Waltham RD, Chiodo AA, Bateman JF. Adès LC, et al. Among authors: bateman jf. Br Heart J. 1995 Aug;74(2):112-6. doi: 10.1136/hrt.74.2.112. Br Heart J. 1995. PMID: 7546986 Free PMC article.

5

Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent.

Adès LC, Davies R, Haan EA, Holman KJ, Watson KC, Sreetharan D, Cao SN, Milewicz DM, Bateman JF, Chiodo AA, Eccles M, McNoe L, Harbord M. Adès LC, et al. Among authors: bateman jf. Clin Dysmorphol. 1999 Oct;8(4):269-76. Clin Dysmorphol. 1999. PMID: 10532176

6

Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix.

Mundlos S, Chan D, Weng YM, Sillence DO, Cole WG, Bateman JF. Mundlos S, et al. Among authors: bateman jf. J Biol Chem. 1996 Aug 30;271(35):21068-74. doi: 10.1074/jbc.271.35.21068. J Biol Chem. 1996. PMID: 8702873 Free article.

7

Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.

Chiodo AA, Sillence DO, Cole WG, Bateman JF. Chiodo AA, et al. Among authors: bateman jf. Biochem J. 1995 Nov 1;311 ( Pt 3)(Pt 3):939-43. doi: 10.1042/bj3110939. Biochem J. 1995. PMID: 7487954 Free PMC article.

8

Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly.

Lamandé SR, Chessler SD, Golub SB, Byers PH, Chan D, Cole WG, Sillence DO, Bateman JF. Lamandé SR, et al. Among authors: bateman jf. J Biol Chem. 1995 Apr 14;270(15):8642-9. doi: 10.1074/jbc.270.15.8642. J Biol Chem. 1995. PMID: 7721766 Free article.

9

A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV.

Bateman JF, Chiodo AA, Weng YM, Chan D, Haan E. Bateman JF, et al. Hum Mutat. 1998;Suppl 1:S257-9. doi: 10.1002/humu.1380110182. Hum Mutat. 1998. PMID: 9452103 No abstract available.

10

A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia.

Chan D, Weng YM, Graham HK, Sillence DO, Bateman JF. Chan D, et al. Among authors: bateman jf. J Clin Invest. 1998 Apr 1;101(7):1490-9. doi: 10.1172/JCI1976. J Clin Invest. 1998. PMID: 9525992 Free PMC article.

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