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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
Inter-Fraction Motion and Dosimetric Analysis of Volumetric Modulated Arc Therapy for Craniospinal Irradiation in Adult Medulloblastoma Patients.
Bonaparte I, Di Guglielmo FC, Fragnoli F, Cuscito R, Indellicati C, De Pascali C, Surgo A, Carbonara R, Davì V, Gentile MA, Calbi R, Caliandro M, Sanfrancesco G, Aga A, Cardetta P, Antonicelli M, Ciocia A, Curci D, Ciliberti MP, Fiorentino A. Bonaparte I, et al. Among authors: gentile ma. J Pers Med. 2024 Nov 30;14(12):1134. doi: 10.3390/jpm14121134. J Pers Med. 2024. PMID: 39728047 Free PMC article.
Metabolic Complete Response of Metastatic Oncogene-Negative, PDL1-Negative Non-Small Cell Lung Cancer After Chemo-Immunotherapy and Radiotherapy: A Case Report.
Surgo A, Davì V, Ciliberti MP, Carbonara R, Caliandro M, Di Guglielmo FC, Sasso N, Calbi R, Gentile MA, Talienti T, Bruno I, Troia M, Bonaparte I, Ludovico GM, Surico G, Fiorentino A. Surgo A, et al. Among authors: gentile ma. Curr Oncol. 2024 Dec 23;31(12):8118-8126. doi: 10.3390/curroncol31120598. Curr Oncol. 2024. PMID: 39727721 Free PMC article.
Early progression beyond first-line chemoimmunotherapy in follicular lymphoma: Insights from a Fondazione Italiana Linfoma (FIL) study.
Bavieri A, Nizzoli ME, Tucci A, Zilioli VR, Olivieri J, Bianchi B, Rosaria MG, Annibali O, Bari A, Casaluci GM, Cimminiello M, Di Renzo N, Cavallo F, Pavone V, Mannarella C, Arcari A, Alessandro M, Anastasia A, Tarantino V, Neri A, Gentile M, Morabito F, Luminari S. Bavieri A, et al. Among authors: gentile m. Hemasphere. 2024 Dec 10;8(12):e70049. doi: 10.1002/hem3.70049. eCollection 2024 Dec. Hemasphere. 2024. PMID: 39698333 Free PMC article. No abstract available.
Can We Noninvasively Rule Out Acute Rejection? External Validation of a Urinary Chemokine-Based Model.
Gandolfini I, Mordà B, Martinelli E, Delsante M, Rossi GM, Gentile M, Alibrandi S, Salvetti D, Ben Youssif O, Fiaccadori E, Palmisano A, Cravedi P, Maggiore U. Gandolfini I, et al. Among authors: gentile m. Transpl Int. 2024 Dec 4;37:13810. doi: 10.3389/ti.2024.13810. eCollection 2024. Transpl Int. 2024. PMID: 39697900 Free PMC article. No abstract available.
Immunoglobulin light chain mutational status refines IGHV prognostic value in identifying chronic lymphocytic leukemia patients with early treatment requirement.
Nabki J, Al Deeban B, Sium AM, Cosentino C, Almasri M, Awikeh B, Maher N, Bellia M, Dondolin R, Mouhssine S, Talotta D, Secomandi E, Kogila S, Ghanej J, Maiellaro F, Cividini L, Rasi S, Chiarenza A, Olivieri J, Gentile M, Zaja F, Del Principe MI, Laurenti L, Bomben R, Vit F, Bittolo T, Zucchetto A, Gattei V, Gaidano G, Moia R. Nabki J, et al. Among authors: gentile m. Leukemia. 2024 Dec 17. doi: 10.1038/s41375-024-02499-x. Online ahead of print. Leukemia. 2024. PMID: 39690182
Dynamic behavior and lineage plasticity of the pulmonary venous endothelium.
Wong J, Zhao G, Adams-Tzivelekidis S, Wen H, Chandrasekaran P, Michki SN, Gentile ME, Singh M, Kass-Gergi S, Mendoza M, Holcomb NP, Li X, Tang AT, Negretti NM, Sucre JMS, Frank DB, Vaughan AE. Wong J, et al. Among authors: gentile me. Nat Cardiovasc Res. 2024 Dec;3(12):1584-1600. doi: 10.1038/s44161-024-00573-2. Epub 2024 Dec 9. Nat Cardiovasc Res. 2024. PMID: 39653825
1,310 results