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Issue Date
Title
Author(s)
1997
Dynamic mutation: possible mechanisms and significance in human disease
Richards, R.
;
Sutherland, G.
1999
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient
Gecz, J.
;
Baker, E.
;
Donnelly, A.
;
Ming, J.
;
McDonald-McGinn, D.
;
Spinner, N.
;
Zackai, E.
;
Sutherland, G.
;
Mulley, 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
Ancient missense mutations in a new member of the RoRet gene family are likely to cause Familial Mediterranean Fever
Aksentijevich, I.
;
Centola, M.
;
Deng, Z.
;
Sood, R.
;
Balow, J.
;
Wood, G.
;
Zaks, N.
;
Mansfield, E.
;
Chen, X.
;
Eisenberg, S.
;
Vedula, A.
;
Shafran, N.
;
Raben, N.
;
Pras, E.
;
Pras, M.
;
Kastner, D.
;
Blake, T.
;
Baxevanis, A.
;
Robbins, C.
;
Krizman, D.
;
et al.
1998
Deafness due to Pro250Arg mutation of FGFR3
Hollway, G.
;
Suthers, G.
;
Battese, K.
;
Turner, A.
;
David, D.
;
Mulley, J.
1998
Gene localisation for an autosomal dominant familial periodic fever to 12p13.
Mulley, J.
;
Saar, K.
;
Hewitt, G.
;
Rueschendorf, F.
;
Phillips, H.
;
Colley, A.
;
Sillence, D.
;
Reis, A.
;
Wilson, M.
1997
Genetics heterogeneity in familial acute myelogenous leukemia: Evidence for a second locus at chromosome 16q21-23.2
Horwitz, M.
;
Benson, K.
;
Li, F.Q.
;
Wolff, J.
;
Leppert, M.
;
Hobson, L.
;
Mangelsdorf, M.
;
Yu, S.
;
Hewett, D.
;
Richards, R.
;
Raskind, W.
1998
A new pineoblastoma cell line, PER-480, with der(10)t(10;17), der(16)t(1;16), & enhanced MYC expression in the absence of gene amplification.
Kees, U.
;
Spagnolo, D.
;
Hallam, L.
;
Ford, J.
;
Ranford, P.
;
Baker, D.
;
Callen, D.
;
Biegel, J.
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.
1996
A novel X-linked gene, G4.5. is responsible for Barth Syndrome
Bione, S.
;
D'Adamo, P.
;
Maestrini, E.
;
Gedeon, A.
;
Bolhuis, P.
;
Toniolo, D.
Discover
Author
21
Mulley, J.
17
Callen, D.
10
Gedeon, A.
10
Sutherland, G.
7
Eyre, H.
6
Crawford, J.
6
Doggett, N.
6
Donnelly, A.
6
Whitmore, S.
5
Aksentijevich, I.
.
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Subject
28
Male
27
Female
26
Molecular Sequence Data
22
Chromosome Mapping
16
Chromosomes, Human, Pair 16
16
Pedigree
15
Amino Acid Sequence
15
Genetic Linkage
14
Base Sequence
14
X Chromosome
.
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Date issued
9
1999
19
1998
12
1997
10
1996
2
1995