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by Rice, Gillian and Patrick, Teresa and Parmar, Rekha and Taylor, Claire F and Aeby, Alec and Aicardi, Jean and Artuch, Rafael and Montalto, Simon Attard and Bacino, Carlos A and Barroso, Bruno and Baxter, Peter and Benko, Willam S and Bergmann, Carsten and Bertini, Enrico and Biancheri, Roberta and Blair, Edward M and Blau, Nenad and Bonthron, David T and Briggs, Tracy and Brueton, Louise A and Brunner, Han G and Burke, Christopher J and Carr, Ian M and Carvalho, Daniel R and Chandler, Kate E and Christen, Hans-Jürgen and Corry, Peter C and Cowan, Frances M and Cox, Helen and D’Arrigo, Stefano and Dean, John and De Laet, Corinne and De Praeter, Claudine and Déry, Catherine and Ferrie, Colin D and Flintoff, Kim and Frints, Suzanna G.M and Garcia-Cazorla, Angels and Gener, Blanca and Goizet, Cyril and Goutières, Françoise and Green, Andrew J and Guët, Agnès and Hamel, Ben C.J and Hayward, Bruce E and Heiberg, Arvid and Hennekam, Raoul C and Husson, Marie and Jackson, Andrew P and Jayatunga, Rasieka and Jiang, Yong-Hui and Kant, Sarina G and Kao, Amy and King, Mary D and Kingston, Helen M and Klepper, Joerg and van der Knaap, Marjo S and Kornberg, Andrew J and Kotzot, Dieter and Kratzer, Wilfried and Lacombe, Didier and Lagae, Lieven and Landrieu, Pierre Georges and Lanzi, Giovanni and Leitch, Andrea and Lim, Ming J and Livingston, John H and Lourenco, Charles M and Lyall, E. G. Hermione and Lynch, Sally A and Lyons, Michael J and Marom, Daphna and McClure, John P and McWilliam, Robert and Melancon, Serge B and Mewasingh, Leena D and Moutard, Marie-Laure and Nischal, Ken K and Østergaard, John R and Prendiville, Julie and Rasmussen, Magnhild and Rogers, R. Curtis and Roland, Dominique and Rosser, Elisabeth M and Rostasy, Kevin and Roubertie, Agathe and Sanchis, Amparo and Schiffmann, Raphael and Scholl-Bürgi, Sabine and Seal, Sunita and Shalev, Stavit A and Corcoles, C. Sierra and Sinha, Gyan P and Soler, Doriette and Spiegel, Ronen and Stephenson, John B.P and Tacke, Uta and Tan, Tiong Yang and Till, Marianne and Tolmie, John L and ...
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 81, Issue 4, pp. 713 - 725
Journal Article
The Journal of Experimental Medicine, ISSN 0022-1007, 01/2016, Volume 213, Issue 7, pp. 1163 - 1174
textabstractPseudo-TOR CH syndrome (PTS) is characterized by microcephaly, enlarged ventricles, cerebral calcification, and, occasionally, by systemic features... 
MEDICINE, RESEARCH & EXPERIMENTAL | AICARDI-GOUTIERES SYNDROME | DISEASE | GUIDELINES | INFECTION-LIKE SYNDROME | MUTATIONS | IMMUNOLOGY | SEQUENCING DATA | BRAIN
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 03/2003, Volume 40, Issue 3, pp. 183 - 187
Journal Article
Journal Article
PEDIATRIC RADIOLOGY, ISSN 0301-0449, 08/2012, Volume 42, Issue 8, pp. 932 - 940
Journal Article
Journal Article
Cell Cycle, ISSN 1538-4101, 06/2008, Volume 7, Issue 12, pp. 1718 - 1725
Journal Article
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 07/2000, Volume 67, Issue 1, pp. 213 - 221
We have studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutieres syndrome. Affected individuals had developed an early-onset... 
2 SIBLINGS | INTERFERON-ALPHA | CEREBROSPINAL-FLUID LYMPHOCYTOSIS | INTRACRANIAL CALCIFICATION | BASAL GANGLIA | INTRAUTERINE INFECTION | GENETICS & HEREDITY | INFECTION-LIKE SYNDROME | PROGRESSIVE FAMILIAL ENCEPHALOPATHY | CENTRAL-NERVOUS-SYSTEM | LINKAGE ANALYSIS
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/1999, Volume 36, Issue 6, pp. 461 - 466
Journal Article
Journal Article