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Page 1
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Metin Akcan O, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogense… See abstract for full author list ➔ Matuozzo D, et al. Among authors: carrera p. Genome Med. 2023 Apr 5;15(1):22. doi: 10.1186/s13073-023-01173-8. Genome Med. 2023. PMID: 37020259 Free PMC article.
Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.
Carrera P, Marzinotto I, Bonfanti R, Massimino L, Calzavara S, Favellato Μ, Jofra T, De Giglio V, Bonura C, Stabilini A, Favalli V, Bondesan S, Cicalese MP, Laurenzi A, Caretto A, Frontino G, Rigamonti A, Molinari C, Scavini M, Sandullo F, Zapparoli E, Caridi N, Bonfiglio S, Castorani V, Ungaro F, Petrelli A, Barera G, Aiuti A, Bosi E, Battaglia M, Piemonti L, Lampasona V, Fousteri G. Carrera P, et al. Diabetologia. 2023 Apr;66(4):695-708. doi: 10.1007/s00125-022-05865-5. Epub 2023 Jan 24. Diabetologia. 2023. PMID: 36692510
Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.
Quarantani G, Sorgente A, Alfano M, Pipitone GB, Boeri L, Pozzi E, Belladelli F, Pederzoli F, Ferrara AM, Montorsi F, Moles A, Carrera P, Salonia A, Casari G. Quarantani G, et al. Among authors: carrera p. PLoS One. 2023 Aug 4;18(8):e0288336. doi: 10.1371/journal.pone.0288336. eCollection 2023. PLoS One. 2023. PMID: 37540677 Free PMC article.
Locally Performed HRD Testing for Ovarian Cancer? Yes, We Can!
Magliacane G, Brunetto E, Calzavara S, Bergamini A, Pipitone GB, Marra G, Redegalli M, Grassini G, Rabaiotti E, Taccagni G, Pecciarini L, Carrera P, Mangili G, Doglioni C, Cangi MG. Magliacane G, et al. Among authors: carrera p. Cancers (Basel). 2022 Dec 21;15(1):43. doi: 10.3390/cancers15010043. Cancers (Basel). 2022. PMID: 36612041 Free PMC article.
Case report: coexistence of C9orf72 expansion and progranulin mutation in a case of genetic frontotemporal dementia-clinical features and neuroimaging correlates.
Ghirelli A, Spinelli EG, Canu E, Domi T, Basaia S, Castelnovo V, Pozzi L, Magnani G, Caso F, Caroppo P, Prioni S, Villa C, Riva N, Quattrini A, Carrera P, Filippi M, Agosta F. Ghirelli A, et al. Among authors: carrera p. J Neurol. 2023 Oct;270(10):5102-5109. doi: 10.1007/s00415-023-11839-3. Epub 2023 Jun 29. J Neurol. 2023. PMID: 37382630 Free PMC article. No abstract available.
Expanding the spectrum of neonatal-onset AIFM1-associated disorders.
Zambon AA, Ghezzi D, Baldoli C, Cutillo G, Fontana K, Sofia V, Patricelli MG, Nasca A, Vinci S, Spiga I, Lamantea E, Fanelli GF, Sora MGN, Rovelli R, Poloniato A, Carrera P, Filippi M, Barera G. Zambon AA, et al. Among authors: carrera p. Ann Clin Transl Neurol. 2023 Oct;10(10):1844-1853. doi: 10.1002/acn3.51876. Epub 2023 Aug 29. Ann Clin Transl Neurol. 2023. PMID: 37644805 Free PMC article.
295 results