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Results 1-10 of 13 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2000
New mutations in MID1 provide support for loss of function as the cause of X-linked Optiz syndrome
Cox, T.
;
Allen, L.
;
Cox, L.
;
Hopwood, B.
;
Goodwin, B.
;
Haan, E.
;
Suthers, G.
2005
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)
Wieland, I.
;
Reardon, W.
;
Jakubiczka, S.
;
Franco, B.
;
Kress, W.
;
Vincent-Delorme, C.
;
Theirry, P.
;
Edwards, M.
;
Konig, R.
;
Rusu, C.
;
Schweiger, S.
;
Thompson, E.
;
Tinschert, S.
;
Stewart, F.
;
Wieacker, P.
2002
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation
Turner, G.
;
Partington, M.
;
Kerr, B.
;
Mangelsdorf, M.
;
Gecz, J.
2006
HOXD10 M319K mutation in a family with isolated congenital vertical Talus
Dobbs, M.
;
Gurnett, C.
;
Pierce, B.
;
Exner, G.
;
Robarge, J.
;
Morcuende, J.
;
Cole, W.
;
Templeton, P.
;
Foster, B.
;
Bowcock, A.
2008
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes
Jaekle Santos, L.
;
Xing, C.
;
Barnes, R.
;
Ades, L.
;
Megarbane, A.
;
Vidal, C.
;
Xuereb, A.
;
Tarpey, P.
;
Smith, R.
;
Khazab, M.
;
Shoubridge, C.
;
Partington, M.
;
Futreal, P.
;
Stratton, M.
;
Gecz, J.
;
Zinn, A.
2004
Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families
Marini, C.
;
Scheffer, I.
;
Crossland, K.
;
Grinton, B.
;
Phillips, F.
;
McMahon, J.
;
Turner, S.
;
Dean, J.
;
Kivity, S.
;
Mazarib, A.
;
Neufeld, M.
;
Korczyn, A.
;
Harkin, L.
;
Dibbens, L.
;
Wallace, R.
;
Mulley, J.
;
Berkovic, S.
2001
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
Tiller, G.
;
Hannig, V.
;
Dozier, D.
;
Carrel, L.
;
Trevarthen, K.
;
Wilcox, W.
;
Mundlos, S.
;
Haines, J.
;
Gedeon, A.
;
Gecz, J.
2003
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
Kalscheuer, V.
;
Freude, K.
;
Musante, L.
;
Jensen, L.
;
Yntema, H.
;
Gecz, J.
;
Sefiani, A.
;
Hoffmann, K.
;
Moser, B.
;
Haas, S.
;
Gurok, U.
;
Haesler, S.
;
Aranda, B.
;
Nshedjan, A.
;
Tzschach, A.
;
Hartmann, N.
;
Roloff, T.
;
Shoichet, S.
;
Hagens, O.
;
Tao, J.
;
et al.
2003
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene
Davis, M.
;
Haan, E.
;
Jungbluth, H.
;
Sewry, C.
;
North, K.
;
Muntoni, F.
;
Kuntzer, T.
;
Lamont, P.
;
Bankier, A.
;
Tomlinson, P.
;
Sanchez, A.
;
Walsh, P.
;
Nagarajan, L.
;
Oley, C.
;
Colley, A.
;
Gedeon, A.
;
Quinlivan, R.
;
Dixon, J.
;
James, D.
;
Muller, C.
;
et al.
2008
Pedigree with frontotemporal lobar degeneration - motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9
Luty, A.
;
Kwok, J.
;
Thompson, E.
;
Blumbergs, P.
;
Brooks, W.
;
Loy, C.
;
Dobson-Stone, C.
;
Panegyres, P.
;
Hecker, J.
;
Nicholson, G.
;
Halliday, G.
;
Schofield, P.
Discover
Author
5
Gecz, J.
2
Berkovic, S.
2
et al.
2
Gedeon, A.
2
Haan, E.
2
Mulley, J.
2
Partington, M.
2
Scheffer, I.
2
Thompson, E.
2
Wallace, R.
.
next >
Subject
13
Humans
11
Male
10
Female
8
Mutation
6
DNA Mutational Analysis
5
Molecular Sequence Data
5
Transcription Factors
4
Family Health
4
Genetic Predisposition to Disease
4
Haplotypes
.
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Date issued
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2003
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2001
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2000