متلازمة إيكاردي غوتيير (Arabic Wikipedia)

Analysis of information sources in references of the Wikipedia article "متلازمة إيكاردي غوتيير" in Arabic language version.

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Aicardi J، Goutieres F (1984). "A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis". Ann Neurol. ج. 15 ع. 1: 49–54. DOI:10.1002/ana.410150109. PMID:6712192.
Crow، YJ؛ Livingston، JH (2008). "Aicardi-Goutieres syndrome: an important Mendelian mimic of congenital infection". Dev Med Child Neurol. ج. 50 ع. 6: 410–416. DOI:10.1111/j.1469-8749.2008.02062.x. PMID:18422679.
Livingston، JH؛ Stivaros، S؛ van der Knaap، MS؛ Crow، YJ (2013). "Recognizable phenotypes associated with intracranial calcification". Dev Med Child Neurol. ج. 55 ع. 1: 46–57. DOI:10.1111/j.1469-8749.2012.04437.x. PMID:23121296.

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. ج. 15 ع. 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. ج. 32 ع. 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. ج. 31 ع. 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. ج. 31 ع. 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. ج. 50 ع. 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. ج. 23 ع. 3: 157–61. DOI:10.1055/s-2008-1071333. PMID:1641084.
Crow، YJ؛ وآخرون (2006). "Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus". Nat Genet. ج. 38 ع. 8: 917–20. DOI:10.1038/ng1845. PMID:16845398.
Crow، YJ؛ وآخرون (2006). "Mutations in the genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection". Nat Genet. ج. 38 ع. 8: 910–6. DOI:10.1038/ng1842. PMID:16845400.
Rice، GI؛ وآخرون (2009). "Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response". Nat Genet. ج. 41 ع. 7: 829–32. DOI:10.1038/ng.373. PMC:4154505. PMID:19525956.
Rice، GI؛ وآخرون (2012). "Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type 1 interferon signature". Nat Genet. ج. 44 ع. 11: 1243–8. DOI:10.1038/ng.2414. PMC:4154508. PMID:23001123.
Rice، GI؛ وآخرون (2014). "Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type 1 interferon signaling". Nat Genet. ج. 46 ع. 5: 503–509. DOI:10.1038/ng.2933. PMC:4004585. PMID:24686847.
Rice، GI؛ وآخرون (2007). "Clinical and molecular phenotype of Aicardi-Goutières syndrome". Am J Hum Genet. ج. 81 ع. 4: 713–25. DOI:10.1086/521373. PMC:2227922. PMID:17846997.
McEntagart، M؛ Kamel، H؛ Lebon، P؛ King، MD (1998). "Aicardi-Goutieres syndrome: an expanding phenotype". Neuropaediatrics. ج. 29 ع. 3: 163–7. DOI:10.1055/s-2007-973555. PMID:9706629.
Ostergaard، JR؛ Christensen، T؛ Nehen، AM (1999). "A distinct difference in clinical expression of two siblings with Aicardi-Goutieres syndrome". Neuropaediatrics. ج. 30 ع. 1: 38–41. DOI:10.1055/s-2007-973455. PMID:10222460.
Vogt، J (2013). "Striking intrafamilial phenotypic variability in Aicardi-Goutieres syndrome associated with the recurrent Asian founder mutation in RNASEH2C". Am J Med Genet. ج. 161A ع. 2: 338–42. DOI:10.1002/ajmg.a.35712. PMID:23322642.
Crow، YJ؛ وآخرون (2004). "Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutieres syndrome". Am J Med Genet. ج. 129A ع. 3: 303–7. DOI:10.1002/ajmg.a.30250. PMID:15326633.
Isaacs، A؛ Lindenmann، J (1957). "Virus interference. I. The interferon". Proc R Soc Lond B Biol Sci. ج. 147 ع. 927: 258–67. Bibcode:1957RSPSB.147..258I. DOI:10.1098/rspb.1957.0048. PMID:13465720.
Isaacs، A؛ Lindenmann، J؛ Valentine، RC (1957). "Virus interference. II. Some properties of interferon". Proc R Soc Lond B Biol Sci. ج. 147 ع. 927: 268–73. Bibcode:1957RSPSB.147..268I. DOI:10.1098/rspb.1957.0049. PMID:13465721.
Gresser، I؛ وآخرون (1980). "Interferon-‐induced disease in mice and rats". Ann N Y Acad Sci. ج. 350 ع. 1: 12–20. Bibcode:1980NYASA.350...12G. DOI:10.1111/j.1749-6632.1980.tb20602.x. PMID:6165266.
Blau، N؛ وآخرون (2003). "Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype". Neurology. ج. 61 ع. 5: 642–7. DOI:10.1212/01.wnl.0000082726.08631.e7. PMID:12963755.
Rice، GI؛ وآخرون (2013). "Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR1: a case-control study". Lancet Neurol. ج. 12 ع. 12: 1159–69. DOI:10.1016/S1474-4422(13)70258-8. PMC:4349523. PMID:24183309.
Uggetti، C؛ وآخرون (2009). "Aicardi-Goutieres syndrome: neuroradiologic findings and follow-ups". AJNR Am J Neuroradiol. ج. 30 ع. 10: 1971–6. DOI:10.3174/ajnr.a1694. PMID:19628626.
Livingston، JH؛ Stivaros، S؛ van der Knaap، MS؛ Crow، YJ (2013). "Recognizable phenotypes associated with intracranial calcification". Dev Med Child Neurol. ج. 55 ع. 1: 46–57. DOI:10.1111/j.1469-8749.2012.04437.x. PMID:23121296.

harvard.edu

ui.adsabs.harvard.edu

Isaacs، A؛ Lindenmann، J (1957). "Virus interference. I. The interferon". Proc R Soc Lond B Biol Sci. ج. 147 ع. 927: 258–67. Bibcode:1957RSPSB.147..258I. DOI:10.1098/rspb.1957.0048. PMID:13465720.
Isaacs، A؛ Lindenmann، J؛ Valentine، RC (1957). "Virus interference. II. Some properties of interferon". Proc R Soc Lond B Biol Sci. ج. 147 ع. 927: 268–73. Bibcode:1957RSPSB.147..268I. DOI:10.1098/rspb.1957.0049. PMID:13465721.
Gresser، I؛ وآخرون (1980). "Interferon-‐induced disease in mice and rats". Ann N Y Acad Sci. ج. 350 ع. 1: 12–20. Bibcode:1980NYASA.350...12G. DOI:10.1111/j.1749-6632.1980.tb20602.x. PMID:6165266.

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. ج. 15 ع. 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. ج. 32 ع. 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. ج. 31 ع. 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. ج. 31 ع. 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. ج. 50 ع. 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. ج. 23 ع. 3: 157–61. DOI:10.1055/s-2008-1071333. PMID:1641084.
Crow، YJ؛ وآخرون (2006). "Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus". Nat Genet. ج. 38 ع. 8: 917–20. DOI:10.1038/ng1845. PMID:16845398.
Crow، YJ؛ وآخرون (2006). "Mutations in the genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection". Nat Genet. ج. 38 ع. 8: 910–6. DOI:10.1038/ng1842. PMID:16845400.
Rice، GI؛ وآخرون (2009). "Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response". Nat Genet. ج. 41 ع. 7: 829–32. DOI:10.1038/ng.373. PMC:4154505. PMID:19525956.
Rice، GI؛ وآخرون (2012). "Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type 1 interferon signature". Nat Genet. ج. 44 ع. 11: 1243–8. DOI:10.1038/ng.2414. PMC:4154508. PMID:23001123.
Rice، GI؛ وآخرون (2014). "Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type 1 interferon signaling". Nat Genet. ج. 46 ع. 5: 503–509. DOI:10.1038/ng.2933. PMC:4004585. PMID:24686847.
Rice، GI؛ وآخرون (2007). "Clinical and molecular phenotype of Aicardi-Goutières syndrome". Am J Hum Genet. ج. 81 ع. 4: 713–25. DOI:10.1086/521373. PMC:2227922. PMID:17846997.
McEntagart، M؛ Kamel، H؛ Lebon، P؛ King، MD (1998). "Aicardi-Goutieres syndrome: an expanding phenotype". Neuropaediatrics. ج. 29 ع. 3: 163–7. DOI:10.1055/s-2007-973555. PMID:9706629.
Ostergaard، JR؛ Christensen، T؛ Nehen، AM (1999). "A distinct difference in clinical expression of two siblings with Aicardi-Goutieres syndrome". Neuropaediatrics. ج. 30 ع. 1: 38–41. DOI:10.1055/s-2007-973455. PMID:10222460.
Vogt، J (2013). "Striking intrafamilial phenotypic variability in Aicardi-Goutieres syndrome associated with the recurrent Asian founder mutation in RNASEH2C". Am J Med Genet. ج. 161A ع. 2: 338–42. DOI:10.1002/ajmg.a.35712. PMID:23322642.
Crow، YJ؛ وآخرون (2004). "Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutieres syndrome". Am J Med Genet. ج. 129A ع. 3: 303–7. DOI:10.1002/ajmg.a.30250. PMID:15326633.
Isaacs، A؛ Lindenmann، J (1957). "Virus interference. I. The interferon". Proc R Soc Lond B Biol Sci. ج. 147 ع. 927: 258–67. Bibcode:1957RSPSB.147..258I. DOI:10.1098/rspb.1957.0048. PMID:13465720.
Isaacs، A؛ Lindenmann، J؛ Valentine، RC (1957). "Virus interference. II. Some properties of interferon". Proc R Soc Lond B Biol Sci. ج. 147 ع. 927: 268–73. Bibcode:1957RSPSB.147..268I. DOI:10.1098/rspb.1957.0049. PMID:13465721.
Gresser، I؛ وآخرون (1980). "Interferon-‐induced disease in mice and rats". Ann N Y Acad Sci. ج. 350 ع. 1: 12–20. Bibcode:1980NYASA.350...12G. DOI:10.1111/j.1749-6632.1980.tb20602.x. PMID:6165266.
Blau، N؛ وآخرون (2003). "Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype". Neurology. ج. 61 ع. 5: 642–7. DOI:10.1212/01.wnl.0000082726.08631.e7. PMID:12963755.
Rice، GI؛ وآخرون (2013). "Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR1: a case-control study". Lancet Neurol. ج. 12 ع. 12: 1159–69. DOI:10.1016/S1474-4422(13)70258-8. PMC:4349523. PMID:24183309.
Uggetti، C؛ وآخرون (2009). "Aicardi-Goutieres syndrome: neuroradiologic findings and follow-ups". AJNR Am J Neuroradiol. ج. 30 ع. 10: 1971–6. DOI:10.3174/ajnr.a1694. PMID:19628626.
Livingston، JH؛ Stivaros، S؛ van der Knaap، MS؛ Crow، YJ (2013). "Recognizable phenotypes associated with intracranial calcification". Dev Med Child Neurol. ج. 55 ع. 1: 46–57. DOI:10.1111/j.1469-8749.2012.04437.x. PMID:23121296.

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. ج. 32 ع. 11: 881–884. DOI:10.1136/jmg.32.11.881. PMC:1051740. PMID:8592332.
Rice، GI؛ وآخرون (2009). "Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response". Nat Genet. ج. 41 ع. 7: 829–32. DOI:10.1038/ng.373. PMC:4154505. PMID:19525956.
Rice، GI؛ وآخرون (2012). "Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type 1 interferon signature". Nat Genet. ج. 44 ع. 11: 1243–8. DOI:10.1038/ng.2414. PMC:4154508. PMID:23001123.
Rice، GI؛ وآخرون (2014). "Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type 1 interferon signaling". Nat Genet. ج. 46 ع. 5: 503–509. DOI:10.1038/ng.2933. PMC:4004585. PMID:24686847.
Rice، GI؛ وآخرون (2007). "Clinical and molecular phenotype of Aicardi-Goutières syndrome". Am J Hum Genet. ج. 81 ع. 4: 713–25. DOI:10.1086/521373. PMC:2227922. PMID:17846997.
Rice، GI؛ وآخرون (2013). "Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR1: a case-control study". Lancet Neurol. ج. 12 ع. 12: 1159–69. DOI:10.1016/S1474-4422(13)70258-8. PMC:4349523. PMID:24183309.