Jozef Gécz - Dissemin

Papers authored by Jozef Gécz

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2013 Samuel F. Berkovic, Jozef Gecz

Phenotype-genotype complexities: Opening DOORS

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Kristie Lee, Tessa Mattiske, Kunio Kitamura, Jozef Gecz

, Cheryl Shoubridge

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation

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Gai McMichael, Eric Haan, Alison Gardner, Tzu Ying Yap, Suzanna Thompson, Robert Ouvrier, Russell C. Dale, Jozef Gecz

, Alastair H. MacLennan

NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy

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Shane Stegeman, Lachlan A. Jolly

, Susitha Premarathne, Jozef Gecz

, Linda J. Richards, Alan Mackay-Sim, Stephen A. Wood

Loss of Usp9x Disrupts Cortical Architecture, Hippocampal Development and TGFβ-Mediated Axonogenesis

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Gai McMichael, Santhosh Girirajan, Andres Moreno De-Luca, Andres Moreno-De-Luca

, Jozef Gecz

, Chloe Shard, Lam Son Nguyen, Jillian Nicholl, Catherine Gibson, Eric Haan, Evan Eichler, Christa Lese Martin, Alastair MacLennan

Rare copy number variation in cerebral palsy

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Hiromi Hirata, Indrajit Nanda, Anne van Riesen, Hao Hu, Gai McMichael, Melanie Hambrock, Marie-Amélie Papon, Ute Fischer, Sylviane Marouillat, Can Ding, Servane Alirol, Melanie Bienek, Sabine Preisler-Adams, Astrid Grimme, Dominik Seelow and 29 other authors

ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

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Petro Starokadomskyy, Nathan Gluck, Haiying Li, Baozhi Chen, Mathew Wallis, Gabriel N. Maine, Xicheng Mao, Iram W. Zaidi, Marco Y. Hein, Fiona J. McDonald, Steffen Lenzner, Agnes Zecha, Hans-Hilger Ropers, Andreas W. Kuss

, Julie McGaughran and 2 other authors

CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling

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Leanne M. Dibbens, Boukje de Vries, Simona Donatello, Sarah E. Heron

, Bree L. Hodgson, Satyan Chintawar, Douglas E. Crompton, Susannah T. Bellows, James N. Hughes, Karl Martin Klein, Petra M. C. Callenbach, Mark A. Corbett, Alison E. Gardner, Sara Kivity, Xenia Iona and 20 other authors

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

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This paper was not found in any repository, but could be made available legally by the author.

Lysa Boisse Lomax, L. Lomax, Marta A. Bayly, Helle Hjalgrim, Rikke S. Moller, Annemarie M. M. Vlaar, Kari M. Aaberg, Iris Marquardt, Luke C. Gandolfo, Michèl Willemsen, Erik-Jan Kamsteeg, John D. O'Sullivan, G. Christoph Korenke, Bastiaan R. Bloem, Irenaeus F. de Coo and 13 other authors

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

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T. R. Mattiske, May H. Tan, Jozef Gecz

, Cheryl Shoubridge

Challenges of 'sticky' co-immunoprecipitation: Polyalanine tract protein-protein interactions

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Mireille Melko, Lam S. Nguyen, Marie Shaw, Lachlan Jolly

, Barbara Bardoni, Jozef Gecz

Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability

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Lam Son Nguyen, Hyung-Goo Kim, Jill Anne Rosenfeld, Yiping Shen, James Francis Gusella, Yves Lacassie, Lawrence Clarke Layman, Lisa Gail Shaffer, Jozef Gecz, Jozef Gécz

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

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Loredana Poeta, Francesca Fusco, Denise Drongitis, Cheryl Shoubridge, Genesia Manganelli, Stefania Filosa, Mariateresa Paciolla, Monica Courtney, Patrick Collombat, Maria Brigida Lioi, Jozef Gecz

, Matilde Valeria Ursini, Maria Giuseppina Miano

A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX

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Lachlan A. Jolly

, Claire C. Homan

, Reuben Jacob, Simon Barry, Jozef Gecz

The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth

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May H. Tan, Jozef Gecz

, Cheryl Shoubridge

PCR amplification and sequence analysis of GC-rich sequences: Aristaless-related homeobox example

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Zaid Afawi, Simone Mandelstam

, Amos D. Korczyn, Sara Kivity, Simri Walid, Adel Shalata, Karen L. Oliver

, Mark Corbett, Jozef Gecz

, Samuel F. Berkovic, Graeme D. Jackson

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation

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2012 Christopher P. Barnett, Justin J. Mencel, Jozef Gecz

, Wendy Waters, Susan M. Kirwin, Kathy M. B. Vinette, Miriam Uppill, Jillian Nicholl

Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intactNKX2-1

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Lingli Huang, Lachlan A. Jolly

, Saffron Willis-Owen, Alison Gardner, Raman Kumar, R. Sharma, Evelyn Douglas, Cheryl Shoubridge, Dagmar Wieczorek, Andreas Tzschach, Monika Cohen, Anna Hackett, Michael Field, Guy Froyen, Hao Hu and 5 other authors

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

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Lingli Huang, Gemma Poke, Jozef Gecz

, Kate Gibson

A novel contiguous gene deletion ofAVPR2andARHGAP4genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability

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Sally Ann Lynch, Lam Son Nguyen, Li Yen Ng, Mary Waldron, Denise McDonald, Jozef Gecz

Broadening the phenotype associated with mutations in UPF3B: Two further cases with renal dysplasia and variable developmental delay

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Papers authored by Jozef Gécz