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Results 1-10 of 43 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
2008
A novel locus for X-linked congenital cataract on Xq24
Craig, J.
;
Friend, K.
;
Gecz, J.
;
Rattray, K.
;
Trotski, M.
;
Mackey, D.
;
Burdon, K.
2007
The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 gene
Schwartz, C.
;
Tarpey, P.
;
Lubs, H.
;
Verloes, A.
;
May, M.
;
Risheg, H.
;
Friez, M.
;
Futreal, P.
;
Edkins, S.
;
Teague, J.
;
Briault, S.
;
Skinner, C.
;
Bauer-Carlin, A.
;
Simensin, R.
;
Joseph, S.
;
Jones, J.
;
Gecz, J.
;
Stratton, M.
;
Raymond, F.
;
Stevenson, R.
2021
Association of SLC32A1 missense variants with genetic epilepsy with febrile seizures plus
Heron, S.E.
;
Regan, B.M.
;
Harris, R.V.
;
Gardner, A.E.
;
Coleman, M.J.
;
Bennett, M.F.
;
Grinton, B.E.
;
Helbig, K.L.
;
Sperling, M.R.
;
Haut, S.
;
Geller, E.B.
;
Widdess-Walsh, P.
;
Pelekanos, J.T.
;
Bahlo, M.
;
Petrovski, S.
;
Heinzen, E.L.
;
Hildebrand, M.S.
;
Corbett, M.A.
;
Scheffer, I.E.
;
Gecz, J.
;
et al.
2021
A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract
Jones, J.L.
;
Corbett, M.A.
;
Yeaman, E.
;
Zhao, D.
;
Gecz, J.
;
Gasperini, R.J.
;
Charlesworth, J.C.
;
Mackey, D.A.
;
Elder, J.E.
;
Craig, J.E.
;
Burdon, K.P.
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.
2019
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females
Jackson, M.R.
;
Loring, K.E.
;
Homan, C.C.
;
Thai, H.N.
;
Määttänen, L.
;
Arvio, M.
;
Jarvela, I.
;
Shaw, M.
;
Gardner, A.
;
Gecz, J.
;
Shoubridge, C.
2020
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families
Bennett, M.F.
;
Oliver, K.L.
;
Regan, B.M.
;
Bellows, S.T.
;
Schneider, A.L.
;
Rafehi, H.
;
Sikta, N.
;
Crompton, D.E.
;
Coleman, M.
;
Hildebrand, M.S.
;
Corbett, M.A.
;
Kroes, T.
;
Gecz, J.
;
Scheffer, I.E.
;
Berkovic, S.F.
;
Bahlo, M.
2015
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Ramos-Brossier, M.
;
Montani, C.
;
Lebrun, N.
;
Gritti, L.
;
Martin, C.
;
Seminatore-Nole, C.
;
Toussaint, A.
;
Moreno, S.
;
Poirier, K.
;
Dorseuil, O.
;
Chelly, J.
;
Hackett, A.
;
Gecz, J.
;
Bieth, E.
;
Faudet, A.
;
Heron, D.
;
Kooy, R.
;
Loeys, B.
;
Humeau, Y.
;
Sala, C.
;
et al.
2000
Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome
Villard, L.
;
Fontes, M.
;
Ades, L.
;
Gecz, J.
2016
Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism
Hughes, J.
;
Aubert, M.
;
Heatlie, J.
;
Gardner, A.
;
Gecz, J.
;
Morgan, T.
;
Belsky, J.
;
Thomas, P.
Discover
Author
8
et al.
8
Turner, G.
7
Shaw, M.
6
Mulley, J.
5
Berkovic, S.
5
Chelly, J.
5
Gardner, A.
5
Gedeon, A.
5
Kalscheuer, V.
5
Partington, M.
.
next >
Subject
43
Humans
35
Female
24
Mutation
15
Adult
15
Intellectual Disability
15
Molecular Sequence Data
11
Amino Acid Sequence
11
Animals
11
Child
10
Child, Preschool
.
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Date issued
3
2020 - 2021
15
2010 - 2019
23
2000 - 2009
2
1996 - 1999