Jozef Gecz
Jozef Gecz
Verified email at adelaide.edu.au - Homepage
TitleCited byYear
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
H Van Esch, M Bauters, J Ignatius, M Jansen, M Raynaud, K Hollanders, ...
The American Journal of Human Genetics 77 (3), 442-453, 2005
5352005
A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay
S Girirajan, JA Rosenfeld, GM Cooper, F Antonacci, P Siswara, A Itsara, ...
Nature genetics 42 (3), 203, 2010
5152010
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
PS Tarpey, R Smith, E Pleasance, A Whibley, S Edkins, C Hardy, ...
Nature genetics 41 (5), 535, 2009
5052009
Correlation between genotype and phenotype in patients with cystic fibrosis
LC Tsui
New England journal of medicine 329, 1308-1313, 1993
4991993
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
P StrÝmme, ME Mangelsdorf, MA Shaw, KM Lower, SME Lewis, ...
Nature genetics 30 (4), 441, 2002
4362002
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
LS Weaving, J Christodoulou, SL Williamson, KL Friend, OLD McKenzie, ...
The American Journal of Human Genetics 75 (6), 1079-1093, 2004
3952004
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
LR Jensen, M Amende, U Gurok, B Moser, V Gimmel, A Tzschach, ...
The American Journal of Human Genetics 76 (2), 227-236, 2005
3232005
Refining analyses of copy number variation identifies specific genes associated with developmental delay
BP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon, ...
Nature genetics 46 (10), 1063, 2014
3182014
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
LM Dibbens, PS Tarpey, K Hynes, MA Bayly, IE Scheffer, R Smith, ...
Nature genetics 40 (6), 776, 2008
2982008
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
T Bienvenu, K Poirier, G Friocourt, N Bahi, D Beaumont, F Fauchereau, ...
Human molecular genetics 11 (8), 981, 2002
2982002
Identification of the gene FMR2, associated with FRAXE mental retardation
J Gecz, AK Gedeon, GR Sutherland, JC Mulley
Nature genetics 13 (1), 105, 1996
2951996
Mutations in the X-linked cyclin-dependent kinase–like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation
J Tao, H Van Esch, M Hagedorn-Greiwe, K Hoffmann, B Moser, ...
The American Journal of Human Genetics 75 (6), 1149-1154, 2004
2912004
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
VM Kalscheuer, J Tao, A Donnelly, G Hollway, E Schwinger, S KŁbart, ...
The American Journal of Human Genetics 72 (6), 1401-1411, 2003
2792003
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay
IG Bruno, R Karam, L Huang, A Bhardwaj, CH Lou, EY Shum, HW Song, ...
Molecular cell 42 (4), 500-510, 2011
2352011
PHF6 mutations in T-cell acute lymphoblastic leukemia
P Van Vlierberghe, T Palomero, H Khiabanian, J Van der Meulen, ...
Nature genetics 42 (4), 338, 2010
2302010
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
LM Dibbens, B De Vries, S Donatello, SE Heron, BL Hodgson, ...
Nature genetics 45 (5), 546, 2013
2152013
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
SE Heron, BE Grinton, S Kivity, Z Afawi, SM Zuberi, JN Hughes, ...
The American Journal of Human Genetics 90 (1), 152-160, 2012
2132012
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
ŃK Gedeon, A Colley, R Jamieson, EM Thompson, J Rogers, D Sillence, ...
Nature genetics 22 (4), 400, 1999
2091999
Rett syndrome: clinical review and genetic update
LS Weaving, CJ Ellaway, J Gecz, J Christodoulou
Journal of medical genetics 42 (1), 1-7, 2005
2042005
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
PS Tarpey, FL Raymond, LS Nguyen, J Rodriguez, A Hackett, ...
Nature genetics 39 (9), 1127, 2007
1992007
The system can't perform the operation now. Try again later.
Articles 1–20