195 related articles for article (PubMed ID: 27604406)
1. The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome.
Yarbrough K; Danko C; Krol A; Zonana J; Leitenberger S
Am J Med Genet A; 2016 Dec; 170(12):3308-3312. PubMed ID: 27604406
[TBL] [Abstract][Full Text] [Related]
2. A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
Abe J; Nakamura K; Nishikomori R; Kato M; Mitsuiki N; Izawa K; Awaya T; Kawai T; Yasumi T; Toyoshima I; Hasegawa K; Ohshima Y; Hiragi T; Sasahara Y; Suzuki Y; Kikuchi M; Osaka H; Ohya T; Ninomiya S; Fujikawa S; Akasaka M; Iwata N; Kawakita A; Funatsuka M; Shintaku H; Ohara O; Ichinose H; Heike T
Rheumatology (Oxford); 2014 Mar; 53(3):448-58. PubMed ID: 24300241
[TBL] [Abstract][Full Text] [Related]
3. Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).
de Barcelos IP; Woidill S; Gavazzi F; Modesti NB; Sevagamoorthy A; Vanderver A; Adang L
Mol Genet Metab; 2024 May; 142(1):108346. PubMed ID: 38368708
[TBL] [Abstract][Full Text] [Related]
4. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ; Chase DS; Lowenstein Schmidt J; Szynkiewicz M; Forte GM; Gornall HL; Oojageer A; Anderson B; Pizzino A; Helman G; Abdel-Hamid MS; Abdel-Salam GM; Ackroyd S; Aeby A; Agosta G; Albin C; Allon-Shalev S; Arellano M; Ariaudo G; Aswani V; Babul-Hirji R; Baildam EM; Bahi-Buisson N; Bailey KM; Barnerias C; Barth M; Battini R; Beresford MW; Bernard G; Bianchi M; Billette de Villemeur T; Blair EM; Bloom M; Burlina AB; Carpanelli ML; Carvalho DR; Castro-Gago M; Cavallini A; Cereda C; Chandler KE; Chitayat DA; Collins AE; Sierra Corcoles C; Cordeiro NJ; Crichiutti G; Dabydeen L; Dale RC; D'Arrigo S; De Goede CG; De Laet C; De Waele LM; Denzler I; Desguerre I; Devriendt K; Di Rocco M; Fahey MC; Fazzi E; Ferrie CD; Figueiredo A; Gener B; Goizet C; Gowrinathan NR; Gowrishankar K; Hanrahan D; Isidor B; Kara B; Khan N; King MD; Kirk EP; Kumar R; Lagae L; Landrieu P; Lauffer H; Laugel V; La Piana R; Lim MJ; Lin JP; Linnankivi T; Mackay MT; Marom DR; Marques Lourenço C; McKee SA; Moroni I; Morton JE; Moutard ML; Murray K; Nabbout R; Nampoothiri S; Nunez-Enamorado N; Oades PJ; Olivieri I; Ostergaard JR; Pérez-Dueñas B; Prendiville JS; Ramesh V; Rasmussen M; Régal L; Ricci F; Rio M; Rodriguez D; Roubertie A; Salvatici E; Segers KA; Sinha GP; Soler D; Spiegel R; Stödberg TI; Straussberg R; Swoboda KJ; Suri M; Tacke U; Tan TY; te Water Naude J; Wee Teik K; Thomas MM; Till M; Tonduti D; Valente EM; Van Coster RN; van der Knaap MS; Vassallo G; Vijzelaar R; Vogt J; Wallace GB; Wassmer E; Webb HJ; Whitehouse WP; Whitney RN; Zaki MS; Zuberi SM; Livingston JH; Rozenberg F; Lebon P; Vanderver A; Orcesi S; Rice GI
Am J Med Genet A; 2015 Feb; 167A(2):296-312. PubMed ID: 25604658
[TBL] [Abstract][Full Text] [Related]
5. Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.
Abe J; Izawa K; Nishikomori R; Awaya T; Kawai T; Yasumi T; Hiragi N; Hiragi T; Ohshima Y; Heike T
Rheumatology (Oxford); 2013 Feb; 52(2):406-8. PubMed ID: 22829693
[No Abstract] [Full Text] [Related]
6. A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation.
Straussberg R; Marom D; Sanado-Inbar E; Lakovsky Y; Horev G; Shalev SA; Lev D; Lerman-Sagie T; Leshinsky-Silver E
J Child Neurol; 2015 Mar; 30(4):490-5. PubMed ID: 25246298
[TBL] [Abstract][Full Text] [Related]
7. SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.
Karla AR; Pinard A; Boerio ML; Hemelsoet D; Tavernier SJ; De Pauw M; Vereecke E; Fraser S; Bamshad MJ; Guo D; Callewaert B; Milewicz DM
Am J Med Genet A; 2024 Apr; 194(4):e63486. PubMed ID: 38041217
[TBL] [Abstract][Full Text] [Related]
8. Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression.
Thiele H; du Moulin M; Barczyk K; George C; Schwindt W; Nürnberg G; Frosch M; Kurlemann G; Roth J; Nürnberg P; Rutsch F
Hum Mutat; 2010 Nov; 31(11):E1836-50. PubMed ID: 20842748
[TBL] [Abstract][Full Text] [Related]
9. Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).
La Piana R; Uggetti C; Olivieri I; Tonduti D; Balottin U; Fazzi E; Orcesi S
Am J Med Genet A; 2014 Mar; 164A(3):815-9. PubMed ID: 24376015
[TBL] [Abstract][Full Text] [Related]
10. Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.
Haskell GT; Mori M; Powell C; Amrhein TJ; Rice GI; Bailey L; Strande N; Weck KE; Evans JP; Berg JS; Kishnani P
Cold Spring Harb Mol Case Stud; 2018 Oct; 4(5):. PubMed ID: 30275001
[TBL] [Abstract][Full Text] [Related]
11. Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations.
du Moulin M; Nürnberg P; Crow YJ; Rutsch F
Proc Natl Acad Sci U S A; 2011 Jun; 108(26):E232; author reply E233. PubMed ID: 21633013
[No Abstract] [Full Text] [Related]
12. Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene.
Schmelzer L; Smitka M; Wolf C; Lucas N; Tüngler V; Hahn G; Tzschach A; Di Donato N; Lee-Kirsch MA; von der Hagen M
Eur J Paediatr Neurol; 2018 Jan; 22(1):186-189. PubMed ID: 29221912
[TBL] [Abstract][Full Text] [Related]
13. Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C.
Vogt J; Agrawal S; Ibrahim Z; Southwood TR; Philip S; Macpherson L; Bhole MV; Crow YJ; Oley C
Am J Med Genet A; 2013 Feb; 161A(2):338-42. PubMed ID: 23322642
[TBL] [Abstract][Full Text] [Related]
14. Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.
Bursztejn AC; Briggs TA; del Toro Duany Y; Anderson BH; O'Sullivan J; Williams SG; Bodemer C; Fraitag S; Gebhard F; Leheup B; Lemelle I; Oojageer A; Raffo E; Schmitt E; Rice GI; Hur S; Crow YJ
Br J Dermatol; 2015 Dec; 173(6):1505-13. PubMed ID: 26284909
[TBL] [Abstract][Full Text] [Related]
15. Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.
Tüngler V; Silver RM; Walkenhorst H; Günther C; Lee-Kirsch MA
Br J Dermatol; 2012 Jul; 167(1):212-4. PubMed ID: 22356656
[No Abstract] [Full Text] [Related]
16. Chilblains as a diagnostic sign of aicardi-goutières syndrome.
Abdel-Salam GM; El-Kamah GY; Rice GI; El-Darouti M; Gornall H; Szynkiewicz M; Aymard F; Zaki MS; Abdel-Aleem AK; Lebon P; Crow YJ
Neuropediatrics; 2010 Feb; 41(1):18-23. PubMed ID: 20571986
[TBL] [Abstract][Full Text] [Related]
17. Aicardi-Goutières syndrome: cold-induced acral blemish is not always cryoglobulinaemic vasculitis or chilblain lupus.
Singh S; Taneja N; Bala P; Verma KK; Devarajan LSJ
Clin Exp Dermatol; 2018 Jun; 43(4):488-490. PubMed ID: 29341198
[No Abstract] [Full Text] [Related]
18. [An Aicardi-Goutières syndrome associated with a quasi-Moyamoya by a biallelic mutation in SAMHD1].
Barrit S
Rev Med Brux; 2018; 39(3):155-160. PubMed ID: 29869477
[TBL] [Abstract][Full Text] [Related]
19. Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations.
Ramantani G; Häusler M; Niggemann P; Wessling B; Guttmann H; Mull M; Tenbrock K; Lee-Kirsch MA
J Child Neurol; 2011 Nov; 26(11):1425-8. PubMed ID: 21670392
[TBL] [Abstract][Full Text] [Related]
20. Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?
Lessel D; Saha B; Hisama F; Kaymakamzade B; Nurlu G; Gursoy-Özdemir Y; Thiele H; Nürnberg P; Martin GM; Kubisch C; Oshima J
Am J Med Genet A; 2014 Oct; 164A(10):2510-3. PubMed ID: 24989684
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]