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MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D'Arrigo S, Emma F, Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, Salpietro CD, Signorini S, Stringini GR, Verloes A, Zabloka D, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group. Brancati F, et al. Among authors: gentile m. Hum Mutat. 2009 Feb;30(2):E432-42. doi: 10.1002/humu.20924. Hum Mutat. 2009. PMID: 19058225 Free PMC article.
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM. Brancati F, et al. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565097 Free PMC article.
Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.
Gismondi V, Meta M, Bonelli L, Radice P, Sala P, Bertario L, Viel A, Fornasarig M, Arrigoni A, Gentile M, Ponz de Leon M, Anselmi L, Mareni C, Bruzzi P, Varesco L. Gismondi V, et al. Among authors: gentile m. Int J Cancer. 2004 May 1;109(5):680-4. doi: 10.1002/ijc.20054. Int J Cancer. 2004. PMID: 14999774 Free article.
Borderline rejection: To treat or not to treat?
Palmisano A, D'Angelo M, Gandolfini I, Delsante M, Rossi GM, Gentile M, Fiaccadori E, Cravedi P, Maggiore U. Palmisano A, et al. Among authors: gentile m. Transpl Immunol. 2024 Apr 17:102047. doi: 10.1016/j.trim.2024.102047. Online ahead of print. Transpl Immunol. 2024. PMID: 38641147
Momelotinib in myelofibrosis.
Bruzzese A, Martino EA, Labanca C, Mendicino F, Lucia E, Olivito V, Zimbo A, Fragliasso V, Neri A, Morabito F, Vigna E, Gentile M. Bruzzese A, et al. Among authors: gentile m. Expert Opin Pharmacother. 2024 Apr 18:1-8. doi: 10.1080/14656566.2024.2343780. Online ahead of print. Expert Opin Pharmacother. 2024. PMID: 38623844 Review.
Impact of minimal residual disease response and of status of disease on survival after blinatumomab in B-cell acute lymphoblastic leukemia: results from a real-life study.
Leotta S, Markovic U, Duminuco A, Mulè A, Porretto F, Federico V, Gentile M, Pastore D, Nigro LL, Selleri C, Serio B, Calafiore V, Patti C, Mauro E, Vetro C, Maugeri C, Parisi M, Fiumara P, Parrinello L, Marino S, Scuderi G, Garibaldi B, Musso M, Renzo ND, Vigna E, Martino EA, Raimondo FD, Milone G. Leotta S, et al. Among authors: gentile m. Ann Hematol. 2024 Apr 13. doi: 10.1007/s00277-024-05725-9. Online ahead of print. Ann Hematol. 2024. PMID: 38609726
Early spinal muscular atrophy treatment following newborn screening: A 20-month review of the first Italian regional experience.
Gagliardi D, Canzio E, Orsini P, Conti P, Sinisi V, Maggiore C, Santarsia MC, Lagioia G, Lupis G, Roppa I, Scianatico G, Mancini D, Corti S, Comi GP, Gentile M, Gagliardi D. Gagliardi D, et al. Among authors: gentile m. Ann Clin Transl Neurol. 2024 Apr 10. doi: 10.1002/acn3.52018. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38600653 Free article.
Short-term effectiveness of guselkumab in psoriatic arthritis patients and suggestive features of axial involvement: results from a real-life multicentre cohort.
Ruscitti P, Pantano I, Cataldi G, Gentile M, Arrigoni F, Riccio L, Marrone S, Mauro D, Ursini F, Esposito M, Barile A, Fargnoli MC, Giacomelli R, Ciccia F, Cipriani P. Ruscitti P, et al. Among authors: gentile m. Rheumatology (Oxford). 2024 Apr 10:keae220. doi: 10.1093/rheumatology/keae220. Online ahead of print. Rheumatology (Oxford). 2024. PMID: 38598432
Eukaryotic-driven directed evolution of Cas9 nucleases.
Ruta GV, Ciciani M, Kheir E, Gentile MD, Amistadi S, Casini A, Cereseto A. Ruta GV, et al. Among authors: gentile md. Genome Biol. 2024 Mar 25;25(1):79. doi: 10.1186/s13059-024-03215-9. Genome Biol. 2024. PMID: 38528620 Free PMC article.
1,238 results