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Year Number of Results
2003 4
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2005 4
2006 2
2007 7
2008 9
2009 8
2010 4
2011 6
2012 7
2013 5
2014 6
2015 6
2016 7
2017 5
2018 6
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2020 7
2021 9
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106 results

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Page 1
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H. Savige J, et al. Among authors: ariani f. Pediatr Nephrol. 2019 Jul;34(7):1175-1189. doi: 10.1007/s00467-018-3985-4. Epub 2018 Jul 9. Pediatr Nephrol. 2019. PMID: 29987460 Free article. Review.
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
Bruno LP, Doddato G, Valentino F, Baldassarri M, Tita R, Fallerini C, Bruttini M, Lo Rizzo C, Mencarelli MA, Mari F, Pinto AM, Fava F, Fabbiani A, Lamacchia V, Carrer A, Caputo V, Granata S, Benetti E, Zguro K, Furini S, Renieri A, Ariani F. Bruno LP, et al. Among authors: ariani f. Int J Mol Sci. 2021 Dec 14;22(24):13439. doi: 10.3390/ijms222413439. Int J Mol Sci. 2021. PMID: 34948243 Free PMC article. Clinical Trial.
Global injury morbidity and mortality from 1990 to 2017: results from the Global Burden of Disease Study 2017.
James SL, Castle CD, Dingels ZV, Fox JT, Hamilton EB, Liu Z, S Roberts NL, Sylte DO, Henry NJ, LeGrand KE, Abdelalim A, Abdoli A, Abdollahpour I, Abdulkader RS, Abedi A, Abosetugn AE, Abushouk AI, Adebayo OM, Agudelo-Botero M, Ahmad T, Ahmed R, Ahmed MB, Eddine Aichour MT, Alahdab F, Alamene GM, Alanezi FM, Alebel A, Alema NM, Alghnam SA, Al-Hajj S, Ali BA, Ali S, Alikhani M, Alinia C, Alipour V, Aljunid SM, Almasi-Hashiani A, Almasri NA, Altirkawi K, Abdeldayem Amer YS, Amini S, Loreche Amit AM, Andrei CL, Ansari-Moghaddam A, T Antonio CA, Yaw Appiah SC, Arabloo J, Arab-Zozani M, Arefi Z, Aremu O, Ariani F, Arora A, Asaad M, Asghari B, Awoke N, Ayala Quintanilla BP, Ayano G, Ayanore MA, Azari S, Azarian G, Badawi A, Badiye AD, Bagli E, Baig AA, Bairwa M, Bakhtiari A, Balachandran A, Banach M, Banerjee SK, Banik PC, Banstola A, Barker-Collo SL, Bärnighausen TW, Barrero LH, Barzegar A, Bayati M, Baye BA, Bedi N, Behzadifar M, Bekuma TT, Belete H, Benjet C, Bennett DA, Bensenor IM, Berhe K, Bhardwaj P, Bhat AG, Bhattacharyya K, Bibi S, Bijani A, Bin Sayeed MS, Borges G, Borzì AM, Boufous S, Brazinova A, Briko NI, Budhathoki SS, Car J, Cárdenas R, Carvalho F, Castaldelli-Maia … See abstract for full author list ➔ James SL, et al. Among authors: ariani f. Inj Prev. 2020 Oct;26(Supp 1):i96-i114. doi: 10.1136/injuryprev-2019-043494. Epub 2020 Apr 24. Inj Prev. 2020. PMID: 32332142 Free PMC article.
Estimating global injuries morbidity and mortality: methods and data used in the Global Burden of Disease 2017 study.
James SL, Castle CD, Dingels ZV, Fox JT, Hamilton EB, Liu Z, Roberts NLS, Sylte DO, Bertolacci GJ, Cunningham M, Henry NJ, LeGrand KE, Abdelalim A, Abdollahpour I, Abdulkader RS, Abedi A, Abegaz KH, Abosetugn AE, Abushouk AI, Adebayo OM, Adsuar JC, Advani SM, Agudelo-Botero M, Ahmad T, Ahmed MB, Ahmed R, Eddine Aichour MT, Alahdab F, Alanezi FM, Alema NM, Alemu BW, Alghnam SA, Ali BA, Ali S, Alinia C, Alipour V, Aljunid SM, Almasi-Hashiani A, Almasri NA, Altirkawi K, Abdeldayem Amer YS, Andrei CL, Ansari-Moghaddam A, T Antonio CA, Anvari D, Yaw Appiah SC, Arabloo J, Arab-Zozani M, Arefi Z, Aremu O, Ariani F, Arora A, Asaad M, Ayala Quintanilla BP, Ayano G, Ayanore MA, Azarian G, Badawi A, Badiye AD, Baig AA, Bairwa M, Bakhtiari A, Balachandran A, Banach M, Banerjee SK, Banik PC, Banstola A, Barker-Collo SL, Bärnighausen TW, Barzegar A, Bayati M, Bazargan-Hejazi S, Bedi N, Behzadifar M, Belete H, Bennett DA, Bensenor IM, Berhe K, Bhagavathula AS, Bhardwaj P, Bhat AG, Bhattacharyya K, Bhutta ZA, Bibi S, Bijani A, Boloor A, Borges G, Borschmann R, Borzì AM, Boufous S, Braithwaite D, Briko NI, Brugha T, Budhathoki SS, Car J, Cárdenas R, Carvalho F, Castaldelli-Maia JM, Castañed… See abstract for full author list ➔ James SL, et al. Among authors: ariani f. Inj Prev. 2020 Oct;26(Supp 1):i125-i153. doi: 10.1136/injuryprev-2019-043531. Epub 2020 Aug 24. Inj Prev. 2020. PMID: 32839249 Free PMC article.
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.
Khan A, Bruno LP, Alomar F, Umair M, Pinto AM, Khan AA, Khan A, Saima, Fabbiani A, Zguro K, Furini S, Mencarelli MA, Renieri A, Resciniti S, Peña-Guerra KA, Guzmán-Vega FJ, Arold ST, Ariani F, Khan SN. Khan A, et al. Among authors: ariani f. Front Mol Neurosci. 2022 Jun 17;15:877258. doi: 10.3389/fnmol.2022.877258. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35782384 Free PMC article.
DNA Methylation in the Diagnosis of Monogenic Diseases.
Cerrato F, Sparago A, Ariani F, Brugnoletti F, Calzari L, Coppedè F, De Luca A, Gervasini C, Giardina E, Gurrieri F, Lo Nigro C, Merla G, Miozzo M, Russo S, Sangiorgi E, Sirchia SM, Squeo GM, Tabano S, Tabolacci E, Torrente I, Genuardi M, Neri G, Riccio A. Cerrato F, et al. Among authors: ariani f. Genes (Basel). 2020 Mar 26;11(4):355. doi: 10.3390/genes11040355. Genes (Basel). 2020. PMID: 32224912 Free PMC article. Review.
Glucocorticosteroid in treatment of severe pneumonia.
Ariani F, Liu K, Jing Z, Qu J. Ariani F, et al. Mediators Inflamm. 2013;2013:865635. doi: 10.1155/2013/865635. Epub 2013 Dec 2. Mediators Inflamm. 2013. PMID: 24363503 Free PMC article. Review.
Natural history of KBG syndrome in a large European cohort.
Loberti L, Bruno LP, Granata S, Doddato G, Resciniti S, Fava F, Carullo M, Rahikkala E, Jouret G, Menke LA, Lederer D, Vrielynck P, Ryba L, Brunetti-Pierri N, Lasa-Aranzasti A, Cueto-González AM, Trujillano L, Valenzuela I, Tizzano EF, Spinelli AM, Bruno I, Currò A, Stanzial F, Benedicenti F, Lopergolo D, Santorelli FM, Aristidou C, Tanteles GA, Maystadt I, Tkemaladze T, Reimand T, Lokke H, Õunap K, Haanpää MK, Holubová A, Zoubková V, Schwarz M, Žordania R, Muru K, Roht L, Tihveräinen A, Teek R, Thomson U, Atallah I, Superti-Furga A, Buoni S, Canitano R, Scandurra V, Rossetti A, Grosso S, Battini R, Baldassarri M, Mencarelli MA, Rizzo CL, Bruttini M, Mari F, Ariani F, Renieri A, Pinto AM. Loberti L, et al. Among authors: ariani f. Hum Mol Genet. 2022 Dec 16;31(24):4131-4142. doi: 10.1093/hmg/ddac167. Hum Mol Genet. 2022. PMID: 35861666 Free PMC article.
Evidence of predisposing epimutation in retinoblastoma.
Gelli E, Pinto AM, Somma S, Imperatore V, Cannone MG, Hadjistilianou T, De Francesco S, Galimberti D, Currò A, Bruttini M, Mari F, Renieri A, Ariani F. Gelli E, et al. Among authors: ariani f. Hum Mutat. 2019 Feb;40(2):201-206. doi: 10.1002/humu.23684. Epub 2018 Nov 26. Hum Mutat. 2019. PMID: 30427563
106 results