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Results 1-10 of 13 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
1997
Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident
Wicking, C.
;
Shanley, S.
;
Smyth, I.
;
Gillies, S.
;
Negus, K.
;
Graham, S.
;
Suthers, G.
;
Haites, N.
;
Edwards, M.
;
Wainwright, B.
;
Chenevix Trench, G.
1998
Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1B
Wallace, R.
;
Wang, D.
;
Singh, R.
;
Scheffer, I.
;
George Jnr., A.
;
Phillips, H.
;
Saar, K.
;
Reis, A.
;
Johnson, E.
;
Sutherland, G.
;
Berkovic, S.
;
Mulley, J.
1999
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
Gedeon, A.
;
Colley, A.
;
Jamieson, R.
;
Thompson, E.
;
Rogers, J.
;
Sillence, D.
;
Tiller, G.
;
Mulley, J.
;
Gecz, J.
1999
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM
Friend, K.
;
Crimmins, D.
;
Phan, T.
;
Sue, C.
;
Colley, A.
;
Fung, V.
;
Morris, J.
;
Sutherland, G.
;
Richards, R.
1997
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies
D'Adamo, P.
;
Fassone, L.
;
Gedeon, A.
;
Janssen, E.
;
Bione, S.
;
Bolhuis, P.
;
Barth, P.
;
Wilson, M.
;
Haan, E.
;
Orstavik, H.
;
Patton, M.
;
Green, A.
;
Zammarchi, E.
;
Donati, M.
;
Toniolo, D.
1999
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
McDermott, M.
;
Aksentijevich, I.
;
Galon, J.
;
McDermott, E.
;
Ogunkolade, B.
;
Centola, M.
;
Mansfield, E.
;
Gadina, M.
;
Karenko, L.
;
Petterson, T.
;
McCarthy, J.
;
Frucht, D.
;
Aringer, M.
;
Torosyan, Y.
;
Teppo, A.M.
;
Wilson, M.
;
Karaarslan, H.
;
Wan, Y.
;
Todd, I.
;
Wood, G.
;
et al.
1995
A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
Laing, N.
;
Wilton, S.
;
Akkari, P.
;
Dorosz, S.
;
Boundy, K.
;
Kneebone, C.
;
Blumbergs, P.
;
White, S.
;
Watkins, H.
;
Love, D.
;
Haan, E.
1995
Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2
Jones, C.
;
Penny, L.
;
Mattina, T.
;
Yu, S.
;
Baker, E.
;
Voullaire, L.
;
Langdon, W.
;
Sutherland, G.
;
Richards, R.
;
Tunnacliffe, A.
1996
Identification of the gene FMR2, associated with FRAXE mental retardation
Gecz, J.
;
Gedeon, A.
;
Sutherland, G.
;
Mulley, J.
1995
A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
Steinlein, O.
;
Mulley, J.
;
Propping, P.
;
Wallace, R.
;
Phillips, H.
;
Sutherland, G.
;
Scheffer, I.
;
Berkovic, S.
Discover
Author
5
Mulley, J.
5
Sutherland, G.
3
Gedeon, A.
2
Berkovic, S.
2
Colley, A.
2
Gecz, J.
2
Haan, E.
2
Phillips, H.
2
Richards, R.
2
Scheffer, I.
.
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Subject
13
Humans
12
Female
9
Amino Acid Sequence
7
Base Sequence
7
Sequence Homology, Amino Acid
5
Animals
5
Exons
5
Genetic Linkage
5
Point Mutation
4
DNA Mutational Analysis
.
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Date issued
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1999
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1998
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1995