Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

159 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. Rice GI, et al. Among authors: orcesi s. Nat Genet. 2009 Jul;41(7):829-32. doi: 10.1038/ng.373. Epub 2009 Jun 14. Nat Genet. 2009. PMID: 19525956 Free PMC article.
Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature.
Politano D, Catalano G, Pezzotti E, Varesio C, Sirchia F, Casella A, Rognone E, Pichiecchio A, Borgatti R, Orcesi S. Politano D, et al. Among authors: orcesi s. Genes (Basel). 2023 Sep 19;14(9):1817. doi: 10.3390/genes14091817. Genes (Basel). 2023. PMID: 37761957 Free PMC article.
Fate of melatonin orally administered in preterm newborns: Antioxidant performance and basis for neuroprotection.
Garofoli F, Franco V, Accorsi P, Albertini R, Angelini M, Asteggiano C, Aversa S, Ballante E, Borgatti R, Cabini RF, Caporali C, Chiapparini L, Cociglio S, Fazzi E, Longo S, Malerba L, Materia V, Mazzocchi L, Naboni C, Palmisani M, Pichiecchio A, Pinelli L, Pisoni C, Preda L, Riboli A, Risso FM, Rizzo V, Rognone E, Simoncelli AM, Villani P, Tzialla C, Ghirardello S, Orcesi S. Garofoli F, et al. Among authors: orcesi s. J Pineal Res. 2024 Jan;76(1):e12932. doi: 10.1111/jpi.12932. Epub 2023 Dec 18. J Pineal Res. 2024. PMID: 38111174 Clinical Trial.
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, Vles JS,… See abstract for full author list ➔ Rice G, et al. Among authors: orcesi s. 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.
Aicardi-Goutieres syndrome.
Orcesi S, La Piana R, Fazzi E. Orcesi S, et al. Br Med Bull. 2009;89:183-201. doi: 10.1093/bmb/ldn049. Epub 2009 Jan 7. Br Med Bull. 2009. PMID: 19129251 Review.
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up.
Uggetti C, La Piana R, Orcesi S, Egitto MG, Crow YJ, Fazzi E. Uggetti C, et al. Among authors: orcesi s. AJNR Am J Neuroradiol. 2009 Nov;30(10):1971-6. doi: 10.3174/ajnr.A1694. Epub 2009 Jul 23. AJNR Am J Neuroradiol. 2009. PMID: 19628626 Free PMC article.
COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
Livingston J, Doherty D, Orcesi S, Tonduti D, Piechiecchio A, La Piana R, Tournier-Lasserve E, Majumdar A, Tomkins S, Rice G, Kneen R, van der Knaap M, Crow Y. Livingston J, et al. Among authors: orcesi s. Neuropediatrics. 2011 Dec;42(6):227-33. doi: 10.1055/s-0031-1295493. Epub 2011 Dec 1. Neuropediatrics. 2011. PMID: 22134833
159 results