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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
Influence of gender on Behçet's Disease phenotype and irreversible organ damage: Data from the International AIDA Network Behçet's Disease Registry.
Sota J, Ragab G, AlMaglouth I, Lopalco G, Tufan A, Direskeneli H, Hinojosa-Azaola A, Giardini HAM, Guerriero S, Triaggianese P, Sfikakis PP, Piga M, Ruscitti P, Govoni M, Iagnocco A, Carubbi F, Hernández-Rodríguez J, Laymouna AH, Mahmoud AAA, Ghanema M, Aboabat AA, Asfina KN, Alanazi F, Morrone M, Spedicato V, Kucuk H, Kardas R, Öner FA, Sevik G, Torres-Ruiz J, Kawakami-Campos PA, Parente de Brito Antonelli I, Dammacco R, Chimenti MS, Arida K, Floris A, Gentile M, Ruffilli F, Bellis E, Alunno A, Espinosa G, Gentileschi S, Gaggiano C, Vitale A, Caggiano V, Lopez R, Tarsia M, Monti S, Hatemi G, Karakoç A, Frassi M, Giacomelli R, Tharwat S, Thabet M, Ciccia F, Emmi G, Viapiana O, Şahin A, Sebastiani GD, Batu ED, Ozen S, Sener S, Opris-Belinski D, Costi S, Conforti A, Cattalini M, Bartoloni E, Akkoç N, Gunduz OS, Conti G, Maier A, Giardina A, Gobbi FL, Parronchi P, Puttini PS, Breda L, Paulis A, Carreño E, Torre F, Więsik-Scewczyk E, Torre AD, Mejía-Salgado G, Shahram F, Guiducci S, Maggio MC, Aragona E, Rigante D, Ciavarro A, Önen F, Erten Ş, Insalaco A, Giudice ED, Barone P, Gicchino F, Brucato A, Gullo AL, Mauro A, Karamanakos A, Balistreri A, Mazzei MA, Frediani B, Fabiani … See abstract for full author list ➔ Sota J, et al. Among authors: gentile m. Joint Bone Spine. 2024 Nov 14:105819. doi: 10.1016/j.jbspin.2024.105819. Online ahead of print. Joint Bone Spine. 2024. PMID: 39549971 Free article.
Mucosal leak after peroral endoscopic myotomy: what to do?
Cocomazzi F, Gentile M, Carparelli S, Varano L, Perri F. Cocomazzi F, et al. Among authors: gentile m. Endoscopy. 2024 Dec;56(S 01):E955-E956. doi: 10.1055/a-2446-6638. Epub 2024 Nov 8. Endoscopy. 2024. PMID: 39515768 Free PMC article. No abstract available.
Coexposure to microplastic and Bisphenol A exhacerbates damage to human kidney proximal tubular cells.
Verzola D, Rumeo N, Alberti S, Loiacono F, La Maestra S, Passalacqua M, Artini C, Russo E, Verrina E, Angeletti A, Matarese S, Mancianti N, Cravedi P, Gentile M, Viazzi F, Esposito P, La Porta E. Verzola D, et al. Among authors: gentile m. Heliyon. 2024 Oct 15;10(20):e39426. doi: 10.1016/j.heliyon.2024.e39426. eCollection 2024 Oct 30. Heliyon. 2024. PMID: 39498083 Free PMC article.
1,295 results