Aicardi‐Goutières syndrome: an important Mendelian mimic of congenital infection
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[1] Y. Crow,et al. Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy. , 2008, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[2] E. Bertini,et al. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) , 2008, American journal of medical genetics. Part A.
[3] D. Barnes,et al. Trex1 Exonuclease Degrades ssDNA to Prevent Chronic Checkpoint Activation and Autoimmune Disease , 2007, Cell.
[4] A. Green,et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. , 2007, American journal of human genetics.
[5] Y. Crow,et al. IAP019 Aicardi-Goutières syndrome presenting as a late onset sub-acute leukoencephalopathy , 2007 .
[6] J. Lieberman,et al. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus , 2007, Nature Genetics.
[7] D. Barnes,et al. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. , 2007, American journal of human genetics.
[8] M. Alarcón-Riquelme. Nucleic acid by-products and chronic inflammation , 2006, Nature Genetics.
[9] D. Barnes,et al. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus , 2006, Nature Genetics.
[10] C. Ponting,et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection , 2006, Nature Genetics.
[11] B. Dan,et al. Phenotypic Overlap between Infantile Systemic Lupus Erythematosus and Aicardi-Goutières Syndrome , 2005, Neuropediatrics.
[12] L. Lagae,et al. A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21 , 2005, Journal of Medical Genetics.
[13] P. Lebon,et al. Cerebral thrombotic microangiopathy and antiphospholipid antibodies in Aicardi-Goutieres syndrome--report of two sisters. , 2005, Neuropediatrics.
[14] C. Woods,et al. Congenital glaucoma and brain stem atrophy as features of Aicardi–Goutières syndrome , 2004, American journal of medical genetics. Part A.
[15] I. Krägeloh-Mann,et al. Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome , 2003, Neurology.
[16] C. Woods,et al. Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism , 2003, Journal of medical genetics.
[17] C. Woods,et al. Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. , 2000, American journal of human genetics.
[18] J. Heckmatt,et al. Familial Systemic Lupus Erythematosus and Congenital Infection-Like Syndrome , 2000, Neuropediatrics.
[19] J. Aicardi,et al. Systemic Lupus Erythematosus or Aicardi-Goutières Syndrome? , 2000, Neuropediatrics.
[20] M. King,et al. Aicardi-Goutières Syndrome: An Expanding Phenotype , 1998, Neuropediatrics.
[21] J. Tolmie,et al. The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). , 1995, Journal of medical genetics.
[22] J. Aicardi,et al. Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy , 1988, Journal of the Neurological Sciences.
[23] J. Aicardi,et al. A Progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis , 1984, Annals of neurology.