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Page 1
SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome.
Frontino G, Delvecchio M, Prudente S, Sordi VD, Barboni P, Di Giamberardino A, Rutigliano A, Pellegrini S, Caretto A, Cascavilla ML, Bonfanti R, D'Annunzio G, Lombardo F, Piemonti L. Frontino G, et al. Among authors: pellegrini s. J Endocrinol Invest. 2024 Nov 11. doi: 10.1007/s40618-024-02495-z. Online ahead of print. J Endocrinol Invest. 2024. PMID: 39527371
A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome.
Chimienti R, Torchio S, Siracusano G, Zamarian V, Monaco L, Lombardo MT, Pellegrini S, Manenti F, Cuozzo F, Rossi G, Carrera P, Sordi V, Broccoli V, Bonfanti R, Casari G, Frontino G, Piemonti L. Chimienti R, et al. Among authors: pellegrini s. Diabetologia. 2025 Jan;68(1):128-151. doi: 10.1007/s00125-024-06307-0. Epub 2024 Nov 9. Diabetologia. 2025. PMID: 39520565 Free PMC article.
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.
Rosain J, Le Voyer T, Liu X, Gervais A, Polivka L, Cederholm A, Berteloot L, Parent AV, Pescatore A, Spinosa E, Minic S, Kiszewski AE, Tsumura M, Thibault C, Esnaola Azcoiti M, Martinovic J, Philippot Q, Khan T, Marchal A, Charmeteau-De Muylder B, Bizien L, Deswarte C, Hadjem L, Fauvarque MO, Dorgham K, Eriksson D, Falcone EL, Puel M, Ünal S, Geraldo A, Le Floc'h C, Li H, Rheault S, Muti C, Bobrie-Moyrand C, Welfringer-Morin A, Fuleihan RL, Lévy R, Roelens M, Gao L, Materna M, Pellegrini S, Piemonti L, Catherinot E, Goffard JC, Fekkar A, Sacko-Sow A, Soudée C, Boucherit S, Neehus AL, Has C, Hübner S, Blanchard-Rohner G, Amador-Borrero B, Utsumi T, Taniguchi M, Tani H, Izawa K, Yasumi T, Kanai S, Migaud M, Aubart M, Lambert N, Gorochov G, Picard C, Soudais C, L'Honneur AS, Rozenberg F, Milner JD, Zhang SY, Vabres P, Trpinac D, Marr N, Boddaert N, Desguerre I, Pasparakis M, Miller CN, Poziomczyk CS, Abel L, Okada S, Jouanguy E, Cheynier R, Zhang Q, Cobat A, Béziat V, Boisson B, Steffann J, Fusco F, Ursini MV, Hadj-Rabia S, Bodemer C, Bustamante J, Luche H, Puel A, Courtois G, Bastard P, Landegren N, Anderson MS, Casanova JL. Rosain J, et al. Among authors: pellegrini s. J Exp Med. 2024 Nov 4;221(11):e20231152. doi: 10.1084/jem.20231152. Epub 2024 Oct 1. J Exp Med. 2024. PMID: 39352576 Free PMC article.
Implications of noncoding regulatory functions in the development of insulinomas.
Ramos-Rodríguez M, Subirana-Granés M, Norris R, Sordi V, Fernández Á, Fuentes-Páez G, Pérez-González B, Berenguer Balaguer C, Raurell-Vila H, Chowdhury M, Corripio R, Partelli S, López-Bigas N, Pellegrini S, Montanya E, Nacher M, Falconi M, Layer R, Rovira M, González-Pérez A, Piemonti L, Pasquali L. Ramos-Rodríguez M, et al. Among authors: pellegrini s. Cell Genom. 2024 Aug 14;4(8):100604. doi: 10.1016/j.xgen.2024.100604. Epub 2024 Jul 2. Cell Genom. 2024. PMID: 38959898 Free PMC article.
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection.
Marchal A, Cirulli ET, Neveux I, Bellos E, Thwaites RS, Schiabor Barrett KM, Zhang Y, Nemes-Bokun I, Kalinova M, Catchpole A, Tangye SG, Spaan AN, Lack JB, Ghosn J, Burdet C, Gorochov G, Tubach F, Hausfater P; COVID Human Genetic Effort; COVIDeF Study Group; French COVID Cohort Study Group; CoV-Contact Cohort; COVID-STORM Clinicians; COVID Clinicians; Orchestra Working Group; Amsterdam UMC COVID-19 Biobank; NIAID-USUHS COVID Study Group; Dalgard CL, Zhang SY, Zhang Q, Chiu C, Fellay J, Grzymski JJ, Sancho-Shimizu V, Abel L, Casanova JL, Cobat A, Bolze A. Marchal A, et al. HGG Adv. 2024 Jul 18;5(3):100300. doi: 10.1016/j.xhgg.2024.100300. Epub 2024 Apr 26. HGG Adv. 2024. PMID: 38678364 Free PMC article.
A multiparameter liquid biopsy approach allows to track melanoma dynamics and identify early treatment resistance.
Scaini MC, Catoni C, Poggiana C, Pigozzo J, Piccin L, Leone K, Scarabello I, Facchinetti A, Menin C, Elefanti L, Pellegrini S, Aleotti V, Vidotto R, Schiavi F, Fabozzi A, Chiarion-Sileni V, Rosato A. Scaini MC, et al. Among authors: pellegrini s. NPJ Precis Oncol. 2024 Mar 28;8(1):78. doi: 10.1038/s41698-024-00567-0. NPJ Precis Oncol. 2024. PMID: 38548846 Free PMC article.
Deficits in emotion recognition and processing in children with high callous-unemotional traits: the role of the MAOA gene.
Muratori P, Palumbo S, Vellucci S, Mariotti V, Billeci L, Levantini V, Inguaggiato E, Masi G, Milone A, Pellegrini S. Muratori P, et al. Among authors: pellegrini s. Eur Child Adolesc Psychiatry. 2024 Oct;33(10):3529-3540. doi: 10.1007/s00787-024-02397-8. Epub 2024 Mar 20. Eur Child Adolesc Psychiatry. 2024. PMID: 38507052 Free PMC article.
Correction: 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, Tayoun AA, Aiuti A, Darazam IA, 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, Zein LE, 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, Akcan OM, 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, Mogensen TH, von Bernuth H, Le… See abstract for full author list ➔ Matuozzo D, et al. Genome Med. 2024 Jan 6;16(1):6. doi: 10.1186/s13073-023-01278-0. Genome Med. 2024. PMID: 38184654 Free PMC article. No abstract available.
337 results