Rett syndrome: clinical review and genetic update
Weaving, L S, Ellaway, C J, Gécz, J, Christodoulou, J
Published in Journal of Medical Genetics (01.01.2005)
Published in Journal of Medical Genetics (01.01.2005)
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Book Review
Aristaless -related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor
McKenzie, O, Ponte, I, Mangelsdorf, M, Finnis, M, Colasante, G, Shoubridge, C, Stifani, S, Gécz, J, Broccoli, V
Published in Neuroscience (25.04.2007)
Published in Neuroscience (25.04.2007)
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Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation
Turner, G, Boyle, J, Partington, MW, Kerr, B, Raymond, FL, Gécz, J
Published in Clinical genetics (01.02.2008)
Published in Clinical genetics (01.02.2008)
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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B W M, Coe, B P, Bernier, R, Green, C, Gerdts, J, Witherspoon, K, Kleefstra, T, Willemsen, M H, Kumar, R, Bosco, P, Fichera, M, Li, D, Amaral, D, Cristofoli, F, Peeters, H, Haan, E, Romano, C, Mefford, H C, Scheffer, I, Gecz, J, de Vries, B B A, Eichler, E E
Published in Molecular psychiatry (01.01.2016)
Published in Molecular psychiatry (01.01.2016)
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Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
Laumonnier, F, Shoubridge, C, Antar, C, Nguyen, L S, Van Esch, H, Kleefstra, T, Briault, S, Fryns, J P, Hamel, B, Chelly, J, Ropers, H H, Ronce, N, Blesson, S, Moraine, C, Gécz, J, Raynaud, M
Published in Molecular psychiatry (01.07.2010)
Published in Molecular psychiatry (01.07.2010)
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Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy
McMichael, G, Bainbridge, M N, Haan, E, Corbett, M, Gardner, A, Thompson, S, van Bon, B W M, van Eyk, C L, Broadbent, J, Reynolds, C, O'Callaghan, M E, Nguyen, L S, Adelson, D L, Russo, R, Jhangiani, S, Doddapaneni, H, Muzny, D M, Gibbs, R A, Gecz, J, MacLennan, A H
Published in Molecular psychiatry (01.02.2015)
Published in Molecular psychiatry (01.02.2015)
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Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome
Baumstark, A, Lower, K M, Sinkus, A, Andriuškevičiūtė, I, Jurkėnienė, L, Gécz, J, Just, W
Published in Journal of medical genetics (01.04.2003)
Published in Journal of medical genetics (01.04.2003)
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Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX
Strømme, P, Bakke, S J, Dahl, A, Gécz, J
Published in Journal of neurology, neurosurgery and psychiatry (01.04.2003)
Published in Journal of neurology, neurosurgery and psychiatry (01.04.2003)
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A Upf3b-mutant mouse model with behavioral and neurogenesis defects
Huang, L, Shum, E Y, Jones, S H, Lou, C-H, Chousal, J, Kim, H, Roberts, A J, Jolly, L A, Espinoza, J L, Skarbrevik, D M, Phan, M H, Cook-Andersen, H, Swerdlow, N R, Gecz, J, Wilkinson, M F
Published in Molecular psychiatry (01.08.2018)
Published in Molecular psychiatry (01.08.2018)
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De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females
Palmer, E E, Stuhlmann, T, Weinert, S, Haan, E, Van Esch, H, Holvoet, M, Boyle, J, Leffler, M, Raynaud, M, Moraine, C, van Bokhoven, H, Kleefstra, T, Kahrizi, K, Najmabadi, H, Ropers, H-H, Delgado, M R, Sirsi, D, Golla, S, Sommer, A, Pietryga, M P, Chung, W K, Wynn, J, Rohena, L, Bernardo, E, Hamlin, D, Faux, B M, Grange, D K, Manwaring, L, Tolmie, J, Joss, S, Cobben, J M, Duijkers, F A M, Goehringer, J M, Challman, T D, Hennig, F, Fischer, U, Grimme, A, Suckow, V, Musante, L, Nicholl, J, Shaw, M, Lodh, S P, Niu, Z, Rosenfeld, J A, Stankiewicz, P, Jentsch, T J, Gecz, J, Field, M, Kalscheuer, V M
Published in Molecular psychiatry (01.02.2018)
Published in Molecular psychiatry (01.02.2018)
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Borjeson-Forssman-Lehmann Syndrome and Multiple Pituitary Hormone Deficiency
Birrcll, G., Lampe, A., Richmond, S., Bruce, S.N., Gecz, J., Lower, K., Wright, M., Chectham, T.D.
Published in Journal of Pediatric Endocrinology and Metabolism (01.12.2003)
Published in Journal of Pediatric Endocrinology and Metabolism (01.12.2003)
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Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4
Shaw, MA, Brunetti-Pierri, N, Kádasi, L, Kovácová, V, Van Maldergem, L, De Brasi, D, Salerno, M, Gécz, J
Published in Clinical genetics (01.09.2003)
Published in Clinical genetics (01.09.2003)
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Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing
van Eyk, C. L., Webber, D. L., Minoche, A. E., Pérez-Jurado, L. A., Corbett, M. A., Gardner, A. E., Berry, J. G., Harper, K., MacLennan, A. H., Gecz, J.
Published in Npj genomic medicine (16.09.2021)
Published in Npj genomic medicine (16.09.2021)
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HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain
Jolly, Lachlan A, Nguyen, Lam Son, Domingo, Deepti, Sun, Ying, Barry, Simon, Hancarova, Miroslava, Plevova, Pavlina, Vlckova, Marketa, Havlovicova, Marketa, Kalscheuer, Vera M, Graziano, Claudio, Pippucci, Tommaso, Bonora, Elena, Sedlacek, Zdenek, Gecz, Jozef
Published in Human molecular genetics (15.06.2015)
Published in Human molecular genetics (15.06.2015)
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Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability
NGUYEN, L. S, JOLLY, L, SRIVASTAVA, A. K, LEE, Y, LONG, R, ADDINGTON, A. M, RAPOPORT, J. L, SUREN, S, HAHN, C. N, GABLE, J, WILKINSON, M. F, CORBETT, M. A, SHOUBRIDGE, C, GECZ, J, CHAN, W. K, HUANG, L, LAUMONNIER, F, RAYNAUD, M, HACKETT, A, FIELD, M, RODRIGUEZ, J
Published in Molecular psychiatry (01.11.2012)
Published in Molecular psychiatry (01.11.2012)
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CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
Voineagu, I, Huang, L, Winden, K, Lazaro, M, Haan, E, Nelson, J, McGaughran, J, Nguyen, L S, Friend, K, Hackett, A, Field, M, Gecz, J, Geschwind, D
Published in Molecular psychiatry (01.01.2012)
Published in Molecular psychiatry (01.01.2012)
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