Early onset seizures and Rett-like features associated with mutations in CDKL5
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J. Gécz | D. Cooper | A. Clarke | D. Pilz | J. Christodoulou | J. Sampson | H. Archer | M. Wright | A. Kerr | K. Ravn | L. Lazarou | Julie C. Evans | R. Butler | P. Jardine | James P Colley | J. Nielsen | Elizabeth Williams | S. Whatley | J. Colley
[1] A. Renieri,et al. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms , 2005, Journal of Medical Genetics.
[2] J. Gécz,et al. Rett syndrome: clinical review and genetic update , 2005, Journal of Medical Genetics.
[3] J. Gécz,et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. , 2004, American journal of human genetics.
[4] J. Gécz,et al. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. , 2004, American journal of human genetics.
[5] L. Vallée,et al. Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases , 2004, Journal of Medical Genetics.
[6] E. Haan,et al. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. , 2003, American journal of human genetics.
[7] F. Hanefeld,et al. An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. , 2002, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[8] G. Hagberg,et al. Epilepsy in a representative series of Rett syndrome , 2001, Acta paediatrica.
[9] J. Chelly,et al. Two affected boys in a Rett syndrome family , 2000, Neurology.
[10] T. Rosenberg,et al. Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families , 2000, Human mutation.
[11] F. Hanefeld. The clinical pattern of the rett syndrome , 1985, Brain and Development.
[12] A. Clarke,et al. Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls , 2005, European Journal of Human Genetics.
[13] I. Scheffer,et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy , 2002, Nature Genetics.
[14] H. Zoghbi,et al. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. , 1992, American journal of human genetics.
[15] J. Aicardi,et al. Atypical forms of Rett syndrome. , 1986, American journal of medical genetics. Supplement.