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195 Possible Causes for gecz

  • Short Palpebral Fissure

    Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B; DDD Study, Gecz[disorders.eyes.arizona.edu] X-linked intellectual disability and disrupt neuronal cell migration and growth Homan CC, Kumar R, Nguyen LS, Haan E, Raymond FL, Abidi F, Raynaud M, Schwartz CE, Wood SA, Gecz[disorders.eyes.arizona.edu]

  • Vitreoretinopathy,Familial, Exudative

    Journal Cell 139:299-311 (2009) DOI: 10.1016/j.cell.2009.07.048 Reference PMID: 18197188 Authors Chiurazzi P, Schwartz CE, Gecz J, Neri G Title XLMR genes: update 2007.[genome.jp]

  • Hutchinson's Teeth

    Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gecz[disorders.eyes.arizona.edu]

  • Episodic Ataxia

    Gecz, J. (2016). Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy . Neurology , 87 (19), 1975-1984.[scholars.northwestern.edu] Additional Document Info Overview Authors Authorship CORBETT MA LERCHE H DR Elena Gazina MEFFORD HC PROF Melanie Bahlo PROF Sam Berkovic PROF Steven Petrou PROF Ingrid Scheffer GECZ[findanexpert.unimelb.edu.au] . ; Gecz, Jozef. / Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy . In: Neurology . 2016 ; Vol. 87, No. 19. pp. 1975-1984.[scholars.northwestern.edu]

  • Familial Exudative Vitreoretinopathy

    Journal Cell 139:299-311 (2009) DOI: 10.1016/j.cell.2009.07.048 Reference PMID: 18197188 Authors Chiurazzi P, Schwartz CE, Gecz J, Neri G Title XLMR genes: update 2007.[genome.jp]

  • Familial Focal Epilepsy with Variable Foci

    MA GARDNER AE KIVITY S IONA X MISS Brigid Regan WELLER CM CRIMMINS D O'BRIEN TJ DE VRIES B GUERRERO-LOPEZ R MULLEY JC DUBEAU F LICCHETTA L BISULLI F COSSETTE P THOMAS PQ GECZ[findanexpert.unimelb.edu.au] Scheffer IE, Heron SE, Regan BM, Mandelstam S, Crompton DE, Hodgson BL, Licchetta L, Provini F, Bisulli F, Vadlamudi L, Gecz J, Connelly A, Tinuper P, Ricos MG, Berkovic SF[ghr.nlm.nih.gov] John C Mulley & Jozef Gecz Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.[nature.com]

  • Prion Disease

    [Epub ahead of print] Tlili A, Hoischen A, Ripoll C, Benabou E, Badel A, Ronan A, Touraine R, Grattau Y, Stora S, van Bon B, de Vries B, Menten B, Bockaert N, Gecz J, Antonarakis[paris-neuroscience.fr]

  • Spondyloepiphyseal Dysplasia Tarda

    J Med Genet 1996; 33: 432–4 PubMed Google Scholar Gecz J, Hillman M, Gedeon AK, Cox TC, Baker F, Mulley JC.[link.springer.com] Karger AG, Basel References Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D, Tiller GE, Mulley JC, Gecz J: Identification of the gene (SEDL) causing X-linked[karger.com] Am J Med Genet. 2001; 99 :328–30. [ PubMed : 11252002 ] Savarirayan R, Thompson E, Gecz J. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).[ncbi.nlm.nih.gov]

  • CK Syndrome

    AU - Gecz, Jozef AU - Stratton, Michael R. AU - Arbour, Laura AU - Hurlburt, Jane AU - Van Allen, Margot I. AU - Herman, Gail E.[jhu.pure.elsevier.com] J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz[ncbi.nlm.nih.gov] .; Gecz, Jozef; Stratton, Michael R.; Arbour, Laura; Hurlburt, Jane; Van Allen, Margot I.; Herman, Gail E.; Zhao, Yongjun; Moore, Richard; Kelley, Richard I.; Jones, Steven[jhu.pure.elsevier.com]

  • Spondyloepiphyseal Dysplasia

    Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz[ghr.nlm.nih.gov] Savarirayan R, Thompson E, Gecz J: Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). Eur J Hum Genet 11:639–642, 2003. CrossRef PubMed Google Scholar 25.[link.springer.com]

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