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AICARDI-GOUTIERES SYNDROME 1
Known as:
Aicardi Goutieres syndrome
, AGS1
, Familial Infantile Encephalopathy with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis
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National Institutes of Health
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Related topics
Related topics
12 relations
Aicardi-Goutieres Syndrome 2
Autosomal dominant inheritance
Autosomal recessive inheritance
Chilblains
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Broader (2)
Autoimmune Diseases of the Nervous System
Congenital neurologic anomalies
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2018
Highly Cited
2018
Attention Gated Networks: Learning to Leverage Salient Regions in Medical Images
Jo Schlemper
,
O. Oktay
,
+4 authors
D. Rueckert
Medical Image Anal.
2018
Corpus ID: 52091450
Highly Cited
2011
Highly Cited
2011
HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase
D. Goldstone
,
Valerie Ennis-Adeniran
,
+12 authors
M. Webb
Nature
2011
Corpus ID: 205226940
SAMHD1, an analogue of the murine interferon (IFN)-γ-induced gene Mg11 (ref. 1), has recently been identified as a human…
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Highly Cited
2010
Highly Cited
2010
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
G. Ramantani
,
J. Kohlhase
,
+23 authors
M. Lee-Kirsch
Arthritis & Rheumatism
2010
Corpus ID: 20082376
OBJECTIVE Aicardi-Goutières syndrome (AGS) is an early-onset encephalopathy resembling congenital viral infection that is…
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Highly Cited
2009
Highly Cited
2009
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
G. Rice
,
J. Bond
,
+48 authors
Y. Crow
Nature Genetics
2009
Corpus ID: 9416730
Aicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows overlap with systemic lupus erythematosus…
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Highly Cited
2008
Highly Cited
2008
Trex1 Prevents Cell-Intrinsic Initiation of Autoimmunity
Daniel B. Stetson
,
J. S. Ko
,
T. Heidmann
,
R. Medzhitov
Cell
2008
Corpus ID: 3752751
Review
2008
Review
2008
Mullen Scales of Early Learning: Ags Edition
R. Dumont
,
John O. Willis
2008
Corpus ID: 11813160
August 2015 Overview The Mullen Scales of Early Learning: AGS Edition (Mullen, 1995) is an individually administered…
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Highly Cited
2006
Highly Cited
2006
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
Y. Crow
,
B. Hayward
,
+23 authors
T. Lindahl
Nature Genetics
2006
Corpus ID: 9069106
Aicardi-Goutières syndrome (AGS) presents as a severe neurological brain disease and is a genetic mimic of the sequelae of…
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Highly Cited
2006
Highly Cited
2006
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
Y. Crow
,
Y. Crow
,
+43 authors
A. Jackson
Nature Genetics
2006
Corpus ID: 8076225
Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of…
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Highly Cited
2006
Highly Cited
2006
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.
Ryan McDaniell
,
Daniel M. Warthen
,
+4 authors
N. Spinner
American Journal of Human Genetics
2006
Corpus ID: 6453222
Alagille syndrome (AGS) is caused by mutations in the gene for the Notch signaling pathway ligand Jagged1 (JAG1), which are found…
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Highly Cited
1997
Highly Cited
1997
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
T. Oda
,
A. Elkahloun
,
+8 authors
S. Chandrasekharappa
Nature Genetics
1997
Corpus ID: 5775213
Alagille syndrome (AGS) is an autosomal-dominant disorder characterized by intrahepatic cholestasis and abnormalities of heart…
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