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1988
2025

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1989 1
1991 1
1992 1
1993 1
1994 1
1995 1
1996 1
1997 1
1998 2
1999 4
2000 3
2001 5
2002 2
2003 5
2004 2
2005 4
2006 3
2007 4
2008 3
2009 6
2010 4
2011 4
2012 7
2013 7
2014 1
2015 3
2016 12
2017 8
2018 5
2019 6
2020 6
2021 6
2022 9
2023 5
2024 7
2025 0

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128 results

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Page 1
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, V… See abstract for full author list ➔ Rice G, et al. Among authors: soler d. Am J Hum Genet. 2007 Oct;81(4):713-25. doi: 10.1086/521373. Epub 2007 Sep 4. Am J Hum Genet. 2007. PMID: 17846997 Free PMC article.
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… See abstract for full author list ➔ Crow YJ, et al. Among authors: soler d. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ. Rice GI, et al. Among authors: soler d. Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30. Lancet Neurol. 2013. PMID: 24183309 Free PMC article.
International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Oegema R, Barakat TS, Wilke M, Stouffs K, Amrom D, Aronica E, Bahi-Buisson N, Conti V, Fry AE, Geis T, Andres DG, Parrini E, Pogledic I, Said E, Soler D, Valor LM, Zaki MS, Mirzaa G, Dobyns WB, Reiner O, Guerrini R, Pilz DT, Hehr U, Leventer RJ, Jansen AC, Mancini GMS, Di Donato N. Oegema R, et al. Among authors: soler d. Nat Rev Neurol. 2020 Nov;16(11):618-635. doi: 10.1038/s41582-020-0395-6. Epub 2020 Sep 7. Nat Rev Neurol. 2020. PMID: 32895508 Free PMC article. Review.
Current knowledge on psoriasis and autoimmune diseases.
Ayala-Fontánez N, Soler DC, McCormick TS. Ayala-Fontánez N, et al. Among authors: soler dc. Psoriasis (Auckl). 2016 Feb 22;6:7-32. doi: 10.2147/PTT.S64950. eCollection 2016. Psoriasis (Auckl). 2016. PMID: 29387591 Free PMC article. Review.
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Sajan SA, Gradisch R, Vogel FD, Coffey AJ, Salyakina D, Soler D, Jayakar P, Jayakar A, Bianconi SE, Cooper AH, Liu S, William N, Benkel-Herrenbrück I, Maiwald R, Heller C, Biskup S, Leiz S, Westphal DS, Wagner M, Clarke A, Stockner T, Ernst M, Kesari A, Krenn M. Sajan SA, et al. Among authors: soler d. Eur J Hum Genet. 2024 Aug;32(8):912-919. doi: 10.1038/s41431-024-01600-3. Epub 2024 Apr 2. Eur J Hum Genet. 2024. PMID: 38565639 Free PMC article.
Telomere dysfunction: a new player in radiation sensitivity.
Genescà A, Martín M, Latre L, Soler D, Pampalona J, Tusell L. Genescà A, et al. Among authors: soler d. Bioessays. 2006 Dec;28(12):1172-80. doi: 10.1002/bies.20501. Bioessays. 2006. PMID: 17120191 Review.
Occupational Asthma Caused by Exposure to Alumina.
Pilia MF, Espejo D, Soler D, Muñoz X. Pilia MF, et al. Among authors: soler d. J Investig Allergol Clin Immunol. 2024 Jul 29;34(4):270-272. doi: 10.18176/jiaci.0974. Epub 2024 Feb 21. J Investig Allergol Clin Immunol. 2024. PMID: 38381064 Free article. No abstract available.
128 results