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Page 1
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Among authors: carriero m. Genet Med. 2022 Aug;24(8):1753-1760. doi: 10.1016/j.gim.2022.04.010. Epub 2022 May 18. Genet Med. 2022. PMID: 35579625 Free PMC article.
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Fallerini C, Picchiotti N, Baldassarri M, Zguro K, Daga S, Fava F, Benetti E, Amitrano S, Bruttini M, Palmieri M, Croci S, Lista M, Beligni G, Valentino F, Meloni I, Tanfoni M, Minnai F, Colombo F, Cabri E, Fratelli M, Gabbi C, Mantovani S, Frullanti E, Gori M, Crawley FP, Butler-Laporte G, Richards B, Zeberg H, Lipcsey M, Hultström M, Ludwig KU, Schulte EC, Pairo-Castineira E, Baillie JK, Schmidt A, Frithiof R; WES/WGS Working Group Within the HGI; GenOMICC Consortium; GEN-COVID Multicenter Study; Mari F, Renieri A, Furini S. Fallerini C, et al. Hum Genet. 2022 Jan;141(1):147-173. doi: 10.1007/s00439-021-02397-7. Epub 2021 Dec 10. Hum Genet. 2022. PMID: 34889978 Free PMC article.
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.
Croci S, Carriero ML, Capitani K, Daga S, Donati F, Frullanti E, Lamacchia V, Tita R, Giliberti A, Valentino F, Benetti E, Ciabattini A, Furini S, Lo Rizzo C, Pinto AM, Conticello SG, Renieri A, Meloni I. Croci S, et al. Eur J Hum Genet. 2020 Sep;28(9):1231-1242. doi: 10.1038/s41431-020-0624-x. Epub 2020 Apr 24. Eur J Hum Genet. 2020. PMID: 32332872 Free PMC article.
AAV-mediated FOXG1 gene editing in human Rett primary cells.
Croci S, Carriero ML, Capitani K, Daga S, Donati F, Papa FT, Frullanti E, Lopergolo D, Lamacchia V, Tita R, Giliberti A, Benetti E, Niccheri F, Furini S, Lo Rizzo C, Conticello SG, Renieri A, Meloni I. Croci S, et al. Eur J Hum Genet. 2020 Oct;28(10):1446-1458. doi: 10.1038/s41431-020-0652-6. Epub 2020 Jun 15. Eur J Hum Genet. 2020. PMID: 32541681 Free PMC article.
Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants.
Baldassarri M, Fava F, Fallerini C, Daga S, Benetti E, Zguro K, Amitrano S, Valentino F, Doddato G, Giliberti A, Di Sarno L, Palmieri M, Carriero ML, Alaverdian D, Beligni G, Iuso N, Castelli F, Quiros-Roldan E, Mondelli MU, Miceli R, Frullanti E, Furini S, Mari F, Renieri A, Gabbi C, On Behalf Of The Gen-Covid Multicenter Study. Baldassarri M, et al. Among authors: carriero ml. J Pers Med. 2021 Jun 15;11(6):558. doi: 10.3390/jpm11060558. J Pers Med. 2021. PMID: 34203982 Free PMC article.
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality.
Nakanishi T, Pigazzini S, Degenhardt F, Cordioli M, Butler-Laporte G, Maya-Miles D, Bujanda L, Bouysran Y, Niemi ME, Palom A, Ellinghaus D, Khan A, Martínez-Bueno M, Rolker S, Amitrano S, Roade Tato L, Fava F; FinnGen; COVID-19 Host Genetics Initiative (HGI); Spinner CD, Prati D, Bernardo D, Garcia F, Darcis G, Fernández-Cadenas I, Holter JC, Banales JM, Frithiof R, Kiryluk K, Duga S, Asselta R, Pereira AC, Romero-Gómez M, Nafría-Jiménez B, Hov JR, Migeotte I, Renieri A, Planas AM, Ludwig KU, Buti M, Rahmouni S, Alarcón-Riquelme ME, Schulte EC, Franke A, Karlsen TH, Valenti L, Zeberg H, Richards JB, Ganna A. Nakanishi T, et al. J Clin Invest. 2021 Dec 1;131(23):e152386. doi: 10.1172/JCI152386. J Clin Invest. 2021. PMID: 34597274 Free PMC article. Clinical Trial.
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males.
Croci S, Venneri MA, Mantovani S, Fallerini C, Benetti E, Picchiotti N, Campolo F, Imperatore F, Palmieri M, Daga S, Gabbi C, Montagnani F, Beligni G, Farias TDJ, Carriero ML, Di Sarno L, Alaverdian D, Aslaksen S, Cubellis MV, Spiga O, Baldassarri M, Fava F, Norman PJ, Frullanti E, Isidori AM, Amoroso A, Mari F, Furini S, Mondelli MU, Gen-Covid Multicenter Study, Chiariello M, Renieri A, Meloni I. Croci S, et al. Among authors: carriero ml. Autophagy. 2022 Jul;18(7):1662-1672. doi: 10.1080/15548627.2021.1995152. Epub 2021 Dec 29. Autophagy. 2022. PMID: 34964709 Free PMC article.
Whole-genome sequencing reveals host factors underlying critical COVID-19.
Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA, Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X, Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P, Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M, Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Elliott P, Walsh T, Tenesa A; GenOMICC investigators; 23andMe investigators; COVID-19 Human Genetics Initiative; Fawkes A, Murphy L, Rowan K, Ponting CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry SC, Moutsianas L, Law A, Caulfield MJ, Baillie JK. Kousathanas A, et al. Nature. 2022 Jul;607(7917):97-103. doi: 10.1038/s41586-022-04576-6. Epub 2022 Mar 7. Nature. 2022. PMID: 35255492 Free PMC article.
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.
Croci S, Carriero ML, Capitani K, Daga S, Donati F, Frullanti E, Lamacchia V, Tita R, Giliberti A, Valentino F, Benetti E, Ciabattini A, Furini S, Lo Rizzo C, Pinto AM, Conticello SG, Renieri A, Meloni I. Croci S, et al. Eur J Hum Genet. 2024 Jan;32(1):134. doi: 10.1038/s41431-023-01290-3. Eur J Hum Genet. 2024. PMID: 36732665 Free article. No abstract available.
Patient-reported outcome measures in patients with familial cerebral cavernous malformations: results from the Treat_CCM trial.
Meessen JMTA, Abete-Fornara G, Zarino B, Castori M, Tassi L, Carriero MR, D'Alessandris QG, Al-Shahi Salman R, Blanda A, Nicolis EB, Novelli D, Caruana M, Vasamì A, Lanfranconi S, Latini R. Meessen JMTA, et al. Among authors: carriero mr. Front Neurol. 2024 Feb 14;15:1338941. doi: 10.3389/fneur.2024.1338941. eCollection 2024. Front Neurol. 2024. PMID: 38419711 Free PMC article.
Circulating biomarkers in familial cerebral cavernous malformation.
Lazzaroni F, Meessen JMTA, Sun Y, Lanfranconi S, Scola E, D'Alessandris QG, Tassi L, Carriero MR, Castori M, Marino S, Blanda A, Nicolis EB, Novelli D, Calabrese R, Agnelli NM, Bottazzi B, Leone R, Mazzola S, Besana S, Catozzi C, Nezi L, Lampugnani MG, Malinverno M, Grdseloff N, Rödel CJ, Rezai Jahromi B, Bolli N, Passamonti F, Magnusson PU, Abdelilah-Seyfried S, Dejana E, Latini R. Lazzaroni F, et al. Among authors: carriero mr. EBioMedicine. 2024 Jan;99:104914. doi: 10.1016/j.ebiom.2023.104914. Epub 2023 Dec 18. EBioMedicine. 2024. PMID: 38113759 Free PMC article.
Virtual hospital and artificial intelligence: a first step towards the application of an innovative health system for the care of rare cerebrovascular diseases.
Rifino N, Bersano A, Padovani A, Conti GM, Cavallini A, Colombo L, Priori A, Pianese R, Gammone MR, Erbetta A, Ciceri EF, Sattin D, Varvello R, Parati EA, Scelzo E; for NOVHO-rCVD project. Rifino N, et al. Neurol Sci. 2023 Nov 29. doi: 10.1007/s10072-023-07206-9. Online ahead of print. Neurol Sci. 2023. PMID: 38017154
Upregulated expression of miR-4443 and miR-4488 in drug resistant melanomas promotes migratory and invasive phenotypes through downregulation of intermediate filament nestin.
Castaldo V, Minopoli M, Di Modugno F, Sacconi A, Liguoro D, Frigerio R, Ortolano A, Di Martile M, Gesualdi L, Madonna G, Capone M, Cirombella R, Catizone A, Del Bufalo D, Vecchione A, Carriero MV, Ascierto PA, Mancini R, Fattore L, Ciliberto G. Castaldo V, et al. Among authors: carriero mv. J Exp Clin Cancer Res. 2023 Nov 27;42(1):317. doi: 10.1186/s13046-023-02878-9. J Exp Clin Cancer Res. 2023. PMID: 38008717 Free PMC article.
The embryo non-invasive pre-implantation diagnosis era: how far are we?
Del Collado M, Andrade GM, Gonçalves NJN, Fortini S, Perecin F, Carriero MM. Del Collado M, et al. Among authors: carriero mm. Anim Reprod. 2023 Sep 4;20(2):e20230069. doi: 10.1590/1984-3143-AR2023-0069. eCollection 2023. Anim Reprod. 2023. PMID: 37720726 Free PMC article.
Sorafenib-Loaded PLGA Carriers for Enhanced Drug Delivery and Cellular Uptake in Liver Cancer Cells.
Caputo TM, Cusano AM, Principe S, Cicatiello P, Celetti G, Aliberti A, Micco A, Ruvo M, Tagliamonte M, Ragone C, Minopoli M, Carriero MV, Buonaguro L, Cusano A. Caputo TM, et al. Among authors: carriero mv. Int J Nanomedicine. 2023 Jul 26;18:4121-4142. doi: 10.2147/IJN.S415968. eCollection 2023. Int J Nanomedicine. 2023. PMID: 37525693 Free PMC article.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Among authors: carriero m. Genet Med. 2023 Feb;25(2):100004. doi: 10.1016/j.gim.2022.100004. Genet Med. 2023. PMID: 36745127 Free PMC article. No abstract available.
Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial.
Lanfranconi S, Scola E, Meessen JMTA, Pallini R, Bertani GA, Al-Shahi Salman R, Dejana E, Latini R; Treat_CCM Investigators. Lanfranconi S, et al. Lancet Neurol. 2023 Jan;22(1):35-44. doi: 10.1016/S1474-4422(22)00409-4. Epub 2022 Nov 17. Lancet Neurol. 2023. PMID: 36403580 Clinical Trial.
Gambling and internet addiction: a pilot study among a Population of Italian Healthcare : Gambling and Internet Addition in a Healthcare Group.
Lupo R, Vitale E, Carriero MC, Calabrò A, Imperiale C, Ercolani M, Filippini A, Santoro P, Carvello M, Rizzo E, Artioli G, Conte L, Muratori PF. Lupo R, et al. Among authors: carriero mc. J Gambl Stud. 2023 Sep;39(3):1337-1354. doi: 10.1007/s10899-022-10150-6. Epub 2022 Jul 30. J Gambl Stud. 2023. PMID: 35908025 Free PMC article.
Crosstalk between Macrophages and Myxoid Liposarcoma Cells Increases Spreading and Invasiveness of Tumor Cells.
Minopoli M, Sarno S, Cannella L, Tafuto S, Scognamiglio G, Gallo M, Fazioli F, Azzaro R, Apice G, De Angelis B, Tamborini E, Garofalo C, Pignochino Y, Mercatali L, Ibrahim T, Falcioni R, Valenti B, Maestro R, Scotlandi K, De Chiara A, Carriero MV. Minopoli M, et al. Among authors: carriero mv. Cancers (Basel). 2021 Jun 30;13(13):3298. doi: 10.3390/cancers13133298. Cancers (Basel). 2021. PMID: 34209309 Free PMC article.
Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy.
Pareyson D, Pantaleoni C, Eleopra R, De Filippis G, Moroni I, Freri E, Zibordi F, Bulgheroni S, Pagliano E, Sarti D, Silvani A, Grazzi L, Tiraboschi P, Didato G, Anghileri E, Bersano A, Valentini L, Piacentini S, Muscio C, Leonardi M, Mariotti C, Eoli M, Nuzzo S, Tagliavini F, Confalonieri P, De Giorgi F; Besta-Telehealth Task Force. Pareyson D, et al. Neurol Sci. 2021 Jul;42(7):2637-2644. doi: 10.1007/s10072-021-05252-9. Epub 2021 Apr 30. Neurol Sci. 2021. PMID: 33929645 Free PMC article.
Genome-wide analysis of copy number alterations led to the characterisation of PDCD10 as oncogene in ovarian cancer.
De Marco C, Zoppoli P, Rinaldo N, Morganella S, Morello M, Zuccalà V, Carriero MV, Malanga D, Chirillo R, Bruni P, Malzoni C, Di Vizio D, Venturella R, Zullo F, Rizzuto A, Ceccarelli M, Ciliberto G, Viglietto G. De Marco C, et al. Among authors: carriero mv. Transl Oncol. 2021 Mar;14(3):101013. doi: 10.1016/j.tranon.2021.101013. Epub 2021 Jan 27. Transl Oncol. 2021. PMID: 33516089 Free PMC article.
Molecular characterization and gene expression analysis of the pro-inflammatory cytokines IL-1β and IL-8 in the South American fish Piaractus mesopotamicus challenged with Aeromonas dhakensis.
Carriero MM, Henrique-Silva F, Meira CM, Gato IMQ, Caetano AR, Lobo FP, Alves AL, Varela ES, Maia AAM. Carriero MM, et al. Genet Mol Biol. 2020 Nov 6;43(4):e20200006. doi: 10.1590/1678-4685-GMB-2020-0006. eCollection 2020. Genet Mol Biol. 2020. PMID: 33174977 Free PMC article.
Corrigendum: Next-Generation Sequencing Approaches for the Identification of Pathognomonic Fusion Transcripts in Sarcomas: The Experience of the Italian ACC Sarcoma Working Group.
Racanelli D, Brenca M, Baldazzi D, Goeman F, Casini B, De Angelis B, Guercio M, Milano GM, Tamborini E, Busico A, Dagrada G, Garofalo C, Caruso C, Brunello A, Pignochino Y, Berrino E, Grignani G, Scotlandi K, Parra A, Hattinger CM, Ibrahim T, Mercatali L, De Vita A, Carriero MV, Pallocca M, Loria R, Covello R, Sbaraglia M, Dei Tos AP, Falcioni R, Maestro R. Racanelli D, et al. Among authors: carriero mv. Front Oncol. 2020 Jun 23;10:944. doi: 10.3389/fonc.2020.00944. eCollection 2020. Front Oncol. 2020. PMID: 32656080 Free PMC article.
Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial.
Lanfranconi S, Scola E, Bertani GA, Zarino B, Pallini R, d'Alessandris G, Mazzon E, Marino S, Carriero MR, Scelzo E, Faragò G, Castori M, Fusco C, Petracca A, d'Agruma L, Tassi L, d'Orio P, Lampugnani MG, Nicolis EB, Vasamì A, Novelli D, Torri V, Meessen JMTA, Al-Shahi Salman R, Dejana E, Latini R; Treat-CCM Investigators. Lanfranconi S, et al. Among authors: carriero mr. Trials. 2020 May 12;21(1):401. doi: 10.1186/s13063-020-4202-x. Trials. 2020. PMID: 32398113 Free PMC article. Clinical Trial.
Next-Generation Sequencing Approaches for the Identification of Pathognomonic Fusion Transcripts in Sarcomas: The Experience of the Italian ACC Sarcoma Working Group.
Racanelli D, Brenca M, Baldazzi D, Goeman F, Casini B, De Angelis B, Guercio M, Milano GM, Tamborini E, Busico A, Dagrada G, Garofalo C, Caruso C, Brunello A, Pignochino Y, Berrino E, Grignani G, Scotlandi K, Parra A, Hattinger CM, Ibrahim T, Mercatali L, De Vita A, Carriero MV, Pallocca M, Loria R, Covello R, Sbaraglia M, Dei Tos AP, Falcioni R, Maestro R. Racanelli D, et al. Among authors: carriero mv. Front Oncol. 2020 Apr 15;10:489. doi: 10.3389/fonc.2020.00489. eCollection 2020. Front Oncol. 2020. PMID: 32351889 Free PMC article.
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