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Baker, NL, Mörgelin, M, Peat, R, Goemans, N, North, KN, Bateman, JF, Lamandé, SR.
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
Human Molecular Genetics
14(2)
:
279 -293
2005
view publication
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Gotkin, MG, Ripley, CR, Lamande, SR, Bateman, JF, Bienkowski, RS.
Intracellular trafficking and degradation of unassociated proα2 chains of collagen type I.
Experimental Cell Research
296(2)
:
307 -316
2004
view publication
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Bateman, JF, Freddi, S, McNeil, R, Thompson, E, Hermanns, P, Savarirayan, R, Lamandé, SR.
Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: Further evidence that collagen X NC1 mutations impair trimer assembly.
Human Mutation
23(4)
:
396 -396
2004
view publication
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Aldred, M, Hall, R, Kilpatrick, N, Bankier, A, Savarirayan, R, Lamandé, Lench, N, Crawford, P.
Molecular analysis for genetic counselling in amelogenesis imperfecta.
Oral Diseases
8(5)
:
249 -253
2002
view publication
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Amor, DJ, Tudball, C, Gardner, RJM, Lamandé, SR, Bateman, JF, Savarirayan, R.
Familial digital arthropathy‐brachydactyly.
American Journal of Medical Genetics
108(3)
:
235 -240
2002
view publication