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在“Elsevier电子期刊”中，命中：24条，耗时：小于0.01 秒

在所有数据库中总计命中：1条

作者：Nicole Ulrick ; BA^a ; Amy Goldstein ; MD^b ; Cas Simons ; PhD^c ; Ryan J. Taft ; PhD^c ; ^d ; ^e ; Guy Helman ; BS^a ; Amy Pizzino ; MS ; CGC^a ; Miriam Bloom ; MD^a ; Julie Vogt ; MBBS ; MRCP^f ; Karen Pysden ; MD^g ; Daria Diodato ; MD^h ; Diego Martinelli ; MDⁱ ; Ahmad Monavari ; MD^j ; Daniela Buhas ; MD^k ; ^l ; Clara D.M. van Karnebeek ; MD ; PhD^m ; Imen Dorboz ; PhDⁿ ; Odile Boespflug-Tanguy ; MD ; PhDⁿ ; ^o ; Diana Rodriguez ; MD ; PhDⁿ ; ^p ; ^q ; Martine Té ; treault ; PhD^l ; ^r ; Jacek Majewski ; PhD^l ; ^r ; Genevieve Bernard ; MD ; MSc^k ; ^s ; ^t ; ^u ; Yi Shiau Ng ; MRCP^v ; Care4Rare Canada Consortium

刊名：Pediatric Neurology

出版年：2017

2.Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome

作者：Davide Tonduti^a ; ^b ; ¹ ; ^{davidetondu@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Simona Orcesi^c ; ¹ ; Emma M. Jenkinson^d ; Imen Dorboz^e ; Florence Renaldo^f ; ^g ; ^h ; Celeste Panteghiniⁱ ; Gillian I. Rice^d ; Marco Henneke^j ; John H. Livingston^k ; Monique Elmaleh^l ; Lydie Burglen^m ; Mich&egrave ; l A.A.P. Willemsenⁿ ; Luisa Chiapparini^o ; Barbara Garavagliaⁱ ; Diana Rodriguez^e ; ^g ; ^h ; Odile Boespflug-Tanguy^e ; ^f ; ² ; Isabella Moroni^a ; ² ; Yanick J. Crow^d ; ^p ; ^q ; ²

关键词：Aicardi-Gouti&egrave ; res syndrome ; RNASET2 ; Leukodystrophy ; Calcification ; Interferonopathy

刊名：European Journal of Paediatric Neurology

出版年：2016

3.Is the role of human RNase H2 restricted to its enzyme activity?

作者：Shaolong Feng^a ; ^{slfeng71@usc.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Zhaohui Cao^b

关键词：Ribonuclease (RNase) H2 ; Nucleic acid metabolism ; Embryonic development ; Aicardi-Gouti&egrave ; res syndrome (AGS) ; Cancer

刊名：Progress in Biophysics and Molecular Biology

出版年：2016

4.Novel interferonopathies associated with mutations in RIG-I like receptors

作者：Insa Buers ^{Insa.Buers@ukmuenster.de" class="auth_mail" title="E-mail the corresponding author}Author Vitae ; Yvonne Nitschke ^{Yvonne.Nitschke@ukmuenster.de" class="auth_mail" title="E-mail the corresponding author}Author Vitae ; Frank Rutsch ; ^{frank.rutsch@ukmuenster.de" class="auth_mail" title="E-mail the corresponding author}Author Vitae

关键词：Singleton-Merten ; Aicardi-Gouti&egrave ; res ; SLE

刊名：Cytokine & Growth Factor Reviews

出版年：2016

5.The Balancing Act of Ribonucleotides in DNA

作者：Susana M. Cerritelli¹ ; Robert J. Crouch¹ ; ^{crouchr@helix.nih.gov" class="auth_mail" title="E-mail the corresponding author}

关键词：DNA polymerase ; RNase H2 ; steric gate ; RER ; Aicardi&ndash ; Gouti&egrave ; res syndrome ; systemic lupus erythematosus

刊名：Trends in Biochemical Sciences

出版年：2016

6.DNA repair by RNA: Templated, or not templated, that is the question

作者：Chance Meers ; Havva Keskin ; Francesca Storici ; ^{storici@gatech.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：DSB ; double-strand break ; HR ; homologous recombination ; NHEJ ; non-homologous end joining ; cDNA ; complementary DNA ; RT ; reverse transcriptase ; Ty ; transposon-yeast ; LINE-1 ; Long Intersperse Element-1 ; dsDNA ; double-stranded DNA ; AGS ; Aicardi-Gouti&egrave ; res syndrome ; GFP ; green fluorescent protein

刊名：DNA Repair

出版年：2016

7.Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy

作者：Justin Chia ; MD^a ; Fehime Kara Eroglu ; MD ; MS^b ; Seza Ö ; zen ; MD^b ; Dicle Orhan ; MD^c ; Gina Montealegre-Sanchez ; MD ; MS^d ; Adriana A. de Jesus ; MD ; PhD^d ; Raphaela Goldbach-Mansky ; MD ; MHSc^d ; Edward W. Cowen ; MD ; MHSc^e ; ^{cowene@mail.nih.gov" class="auth_mail" title="E-mail the corresponding author}

关键词：autoinflammation ; autoinflammatory ; gangrene ; genodermatosis ; inflammation ; interferonopathy ; interstitial lung disease ; vasculitis

刊名：Journal of the American Academy of Dermatology

出版年：2016

8.Inherited anomalies of innate immune receptors in pediatric-onset inflammatory diseases

作者：Cé ; cile Picard^a ; ^b ; ^c ; ^d ; ^e ; ^f ; Anne-Laure Mathieu^a ; ^b ; ^c ; ^d ; Uzma Hasan^a ; ^b ; ^c ; ^d ; Thomas Henry^a ; ^b ; ^c ; ^d ; Yvan Jamilloux^a ; ^b ; ^c ; ^d ; ^g ; Thierry Walzer^a ; ^b ; ^c ; ^d ; Alexandre Belot^a ; ^b ; ^c ; ^d ; ^f ; ^h ; ^{alexandre.belot@chu-lyon.fr" class="auth_mail" title="E-mail the corresponding author}

关键词：ACP5 ; Acid phosphatase 5 ; ADAR1 ; Adenosine deaminase RNA-specific 1 ; AGS ; Aicardi-Gouti&egrave ; res syndrome ; ALRs ; AIM2-like receptors ; AIM2 ; Absent in melanoma 2 ; ASC ; Apoptosis-associated speck-like protein containing a CARD ; CANDLE ; Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ; CAPS ; Cryopyrin-associated periodic syndrome ; CARD9 ; Caspase recruitment domain family member 9 ; CGAS ; Cyclic GMP-AMP synthase ; CLRs ; C-type-lectin receptors ; DAI ; DNA-dependent

刊名：Autoimmunity Reviews

出版年：2015

9.Epilepsy in Aicardi-Gouti猫res syndrome

作者：Georgia Ramantani ; Louis G. Maillard ; Thomas Bast ; Ralf A. Husain ; Pascal Niggemann ; J眉rgen Kohlhase ; Christoph Hertzberg ; Kristina Ungerath ; Micheil A. Innes ; Hartmut Walkenhorst ; Andrea Bevot ; Celina von St眉lpnagel ; Kara Thomas ; Frank Niemann ; Mehmet Ali Ergun ; Uta Tacke ; Martin H盲usler ; Chrysanthy Ikonomidou ; Rudolf Korinthenberg ; Min Ae Lee-Kirsch

关键词：Aicardi&ndash ; Gouti&egrave ; res syndrome ; Epilepsy ; Leukoencephalopathy ; Dystonia ; Spasms ; Status epilepticus

刊名：European Journal of Paediatric Neurology

出版年：January, 2014

10.P87 - 2840: Establishment of rare diagnoses is possible in countries with limited resources

作者：L. Yepiskoposyan ; B. Sukhudyan

刊名：European Journal of Paediatric Neurology

出版年：2015

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