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Peat, RA, Baker, NL, Jones, KJ, North, KN, Lamandé, SR.
Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families.
Neuromuscular Disorders
17(7)
:
547 -557
2007
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Baker, NL, Mörgelin, M, Pace, RA, Adams, NE, Bateman, JF, Lamandé, SR.
A spectrum of dominant collagen VI mutations in Bethlem myopathy.
Matrix Biology
25:
s64 -s65
2006
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Lamandé, SR, Mörgelin, M, Adams, NE, Selan, C, Allen, JM.
The C5 Domain of the Collagen VI α3(VI) Chain Is Critical for Extracellular Microfibril Formation and Is Present in the Extracellular Matrix of Cultured Cells*.
Journal of Biological Chemistry
281(24)
:
16607 -16614
2006
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McGillivray, G, Savarirayan, R, Cox, TC, Stojkoski, C, McNeil, R, Bankier, A, Bateman, JF, Roscioli, T, Gardner, RJM, Lamandé, SR.
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
Journal of Medical Genetics
42(8)
:
656
2005
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Bateman, JF, Wilson, R, Freddi, S, Lamandé, SR, Savarirayan, R.
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
Human Mutation
25(6)
:
525 -534
2005
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