Синдром Экарди — Гутьер (Russian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Синдром Экарди — Гутьер" in Russian language version.

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15nih.gov

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1ped-perinatology.ru

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archive.org

Aicardi J, Goutieres F (1984). "A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis". Ann Neurol. 15 (1): 49—54. doi:10.1002/ana.410150109. PMID 6712192.
Tolmie JL; Shillito P; Hughes-Benzie R; Stephenson JB (1995). "The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)". J Med Genet. 32 (11): 881—884. doi:10.1136/jmg.32.11.881. PMC 1051740. PMID 8592332.
Crow, YJ; Livingston, JH (2008). "Aicardi-Goutieres syndrome: an important Mendelian mimic of congenital infection". Dev Med Child Neurol. 50 (6): 410—416. doi:10.1111/j.1469-8749.2008.02062.x. PMID 18422679.

doi.org

Aicardi J, Goutieres F (1984). "A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis". Ann Neurol. 15 (1): 49—54. doi:10.1002/ana.410150109. PMID 6712192.
Tolmie JL; Shillito P; Hughes-Benzie R; Stephenson JB (1995). "The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)". J Med Genet. 32 (11): 881—884. doi:10.1136/jmg.32.11.881. PMC 1051740. PMID 8592332.
Aicardi, J; Goutieres, F (2000). "Systemic lupus erythematosus or Aicardi-Goutieres syndrome?". Neuropediatrics. 31 (3): 113. doi:10.1055/s-2000-7533. PMID 10963096.
Dale RC; Tang SP; Heckmatt JZ; Tatnall FM (2000). "Familial systemic lupus erythematosus and congenital infection-like syndrome". Neuropediatrics. 31 (3): 155—158. doi:10.1055/s-2000-7492. PMID 10963105.
Crow, YJ; Livingston, JH (2008). "Aicardi-Goutieres syndrome: an important Mendelian mimic of congenital infection". Dev Med Child Neurol. 50 (6): 410—416. doi:10.1111/j.1469-8749.2008.02062.x. PMID 18422679.
Bonnemann, CG; Meinecke, P (1992). "Encephalopathy of infancy with intracerebral calcification and chronic spinal fluid lymphocytosis - another case of the Aicardi-Goutieres syndrome". Neuropaediatrics. 23 (3): 157—61. doi:10.1055/s-2008-1071333. PMID 1641084.
Crow, YJ; et al. (2006). "Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus". Nat Genet. 38 (8): 917—20. doi:10.1038/ng1845. PMID 16845398.
Crow, YJ; et al. (2006). "Mutations in the genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection". Nat Genet. 38 (8): 910—6. doi:10.1038/ng1842. PMID 16845400.
Rice, GI; et al. (2009). "Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response". Nat Genet. 41 (7): 829—32. doi:10.1038/ng.373. PMC 4154505. PMID 19525956.
Rice, GI; et al. (2012). "Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type 1 interferon signature". Nat Genet. 44 (11): 1243—8. doi:10.1038/ng.2414. PMC 4154508. PMID 23001123.
Rice, GI; et al. (2014). "Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type 1 interferon signaling". Nat Genet. 46 (5): 503—509. doi:10.1038/ng.2933. PMC 4004585. PMID 24686847.

dx.doi.org

Брюханова Н. О. и др. Синдром Айкарди-Гутьерес у детей с идиопатической эпилепсией (рус.) // Российский вестник перинатологии и педиатрии. — 2016. — Т. 61, № 2. — С. 68-75. — doi:10.21508/1027-4065-2016-61-2-68-75. Архивировано 21 января 2021 года.

nih.gov

pubmed.ncbi.nlm.nih.gov

Aicardi J, Goutieres F (1984). "A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis". Ann Neurol. 15 (1): 49—54. doi:10.1002/ana.410150109. PMID 6712192.
Tolmie JL; Shillito P; Hughes-Benzie R; Stephenson JB (1995). "The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)". J Med Genet. 32 (11): 881—884. doi:10.1136/jmg.32.11.881. PMC 1051740. PMID 8592332.
Aicardi, J; Goutieres, F (2000). "Systemic lupus erythematosus or Aicardi-Goutieres syndrome?". Neuropediatrics. 31 (3): 113. doi:10.1055/s-2000-7533. PMID 10963096.
Dale RC; Tang SP; Heckmatt JZ; Tatnall FM (2000). "Familial systemic lupus erythematosus and congenital infection-like syndrome". Neuropediatrics. 31 (3): 155—158. doi:10.1055/s-2000-7492. PMID 10963105.
Crow, YJ; Livingston, JH (2008). "Aicardi-Goutieres syndrome: an important Mendelian mimic of congenital infection". Dev Med Child Neurol. 50 (6): 410—416. doi:10.1111/j.1469-8749.2008.02062.x. PMID 18422679.
Bonnemann, CG; Meinecke, P (1992). "Encephalopathy of infancy with intracerebral calcification and chronic spinal fluid lymphocytosis - another case of the Aicardi-Goutieres syndrome". Neuropaediatrics. 23 (3): 157—61. doi:10.1055/s-2008-1071333. PMID 1641084.
Crow, YJ; et al. (2006). "Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus". Nat Genet. 38 (8): 917—20. doi:10.1038/ng1845. PMID 16845398.
Crow, YJ; et al. (2006). "Mutations in the genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection". Nat Genet. 38 (8): 910—6. doi:10.1038/ng1842. PMID 16845400.
Rice, GI; et al. (2009). "Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response". Nat Genet. 41 (7): 829—32. doi:10.1038/ng.373. PMC 4154505. PMID 19525956.
Rice, GI; et al. (2012). "Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type 1 interferon signature". Nat Genet. 44 (11): 1243—8. doi:10.1038/ng.2414. PMC 4154508. PMID 23001123.
Rice, GI; et al. (2014). "Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type 1 interferon signaling". Nat Genet. 46 (5): 503—509. doi:10.1038/ng.2933. PMC 4004585. PMID 24686847.

ncbi.nlm.nih.gov

Tolmie JL; Shillito P; Hughes-Benzie R; Stephenson JB (1995). "The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)". J Med Genet. 32 (11): 881—884. doi:10.1136/jmg.32.11.881. PMC 1051740. PMID 8592332.
Rice, GI; et al. (2009). "Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response". Nat Genet. 41 (7): 829—32. doi:10.1038/ng.373. PMC 4154505. PMID 19525956.
Rice, GI; et al. (2012). "Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type 1 interferon signature". Nat Genet. 44 (11): 1243—8. doi:10.1038/ng.2414. PMC 4154508. PMID 23001123.
Rice, GI; et al. (2014). "Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type 1 interferon signaling". Nat Genet. 46 (5): 503—509. doi:10.1038/ng.2933. PMC 4004585. PMID 24686847.

ped-perinatology.ru

Брюханова Н. О. и др. Синдром Айкарди-Гутьерес у детей с идиопатической эпилепсией (рус.) // Российский вестник перинатологии и педиатрии. — 2016. — Т. 61, № 2. — С. 68-75. — doi:10.21508/1027-4065-2016-61-2-68-75. Архивировано 21 января 2021 года.

web.archive.org

Брюханова Н. О. и др. Синдром Айкарди-Гутьерес у детей с идиопатической эпилепсией (рус.) // Российский вестник перинатологии и педиатрии. — 2016. — Т. 61, № 2. — С. 68-75. — doi:10.21508/1027-4065-2016-61-2-68-75. Архивировано 21 января 2021 года.