Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome von Ponti, G., Castellsagué, E., Ruini, C., Percesepe, A., Tomasi, A.

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Combination of ultrasound and molecular testing in malignancy risk estimate of Bethesda category IV thyroid nodules: results from a single-institution prospective study von Marina, M., Zatelli, M. C., Goldoni, M., Del Rio, P., Corcione, L., Martorana, D., Percesepe, A., Bonatti, F., Mozzoni, P., Crociara, A., Ceresini, G.

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Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa von Tenedini, E., Artuso, L., Bernardis, I., Artusi, V., Percesepe, A., De Rosa, L., Contin, R., Manfredini, R., Pellacani, G., Giannetti, A., Pagani, J., De Luca, M., Tagliafico, E.

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Discrimination of FCGR2B polymorphism without coamplification of FCGR2A and FCGR2C genes von Bonatti, F., Adorni, A., Percesepe, A., Martorana, D.

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A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever von Farjadian, S, Bonatti, F, Soriano, A, Reina, M, Adorni, A, Graziano, C, Moghtaderi, M, Percesepe, A, Romeo, G, Martorana, D

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Cortical malformations and COL4A1 mutation: Three new cases von Vitale, G., Pichiecchio, A., Ormitti, F., Tonduti, D., Asaro, A., Farina, L., Piccolo, B., Percesepe, A., Bastianello, S., Orcesi, S., Accorsi, P., Battaglia, D., Cereda, C., Martelli, P., Mine, M., Pinelli, L., Tartaglione, T., Ghi, T., Parrini, E., Zuffardi, O.

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Expression and Significance of MicroRNA-183 in Hepatocellular Carcinoma von Du, Zhi, Liu, Tong, Guo, Hua, Jing, Li, Li, Shilei, Zhai, Dao-kuan, Shi, Wenxia, Gao, Ying-tang, Liang, Zenghui, Wang, Yajie

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A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation von Stanghellini, I, Genovese, E, Palma, S, Falcinelli, C, Presutti, L, Percesepe, A

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Muir–Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients von Ponti, G., Pellacani, G., Ruini, C., Percesepe, A., Longo, C., Mandel, V. Desmond, Crucianelli, F., Gorelli, G., Tomasi, A.

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ItaLynch: an ongoing Italian study to evaluate the feasibility of mainstreaming the diagnosis of Lynch syndrome in colorectal cancer patients von Puccini, A., Grillo, F., Fassan, M., Lonardi, S., Genuardi, M., Cannizzaro, R., Cavestro, G.M., Marmorino, F., Conca, V., Salvatore, L., Bergamo, F., Tosi, F., Morano, F., Daprà, V., Molica, C., Barana, D., Guglielmi, A., Signorelli, C., D’Amico, M., Zoratto, F., Iacono, D., Morabito, A., Martini, G., Fabbroncini, A., Duro, M., Bruera, G., Auriemma, A., Bonanni, B., Percesepe, A., Dono, M., Battistuzzi, L., Labianca, R., Boni, L., Sciallero, S.

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Supernumerary Teeth: Review of the Literature with Recent Updates von Mallineni, Sreekanth Kumar

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Quantitation of fetal DNA in maternal serum during the first trimester of pregnancy by the use of a DAZ repetitive probe von Stanghellini, I., Bertorelli, R., Capone, L., Mazza, V., Neri, C., Percesepe, A., Forabosco, A.

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The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia von Bertorelli, R, Capone, L, Ambrosetti, F, Garavelli, L, Varriale, L, Mazza, V, Stanghellini, I, Percesepe, A, Forabosco, A

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Molecular Screening for Hereditary Nonpolyposis Colorectal Cancer: A Prospective, Population-Based Study von PERCESEPE, Antonio, BORGHI, Francesca, RONCUCCI, Luca, BENATTI, Piero, VIEL, Alessandra, GENUARDI, Maurizio, MARRA, Giancarlo, KRISTO, Paula, PELTOMÄKI, Paivi, PONZ DE LEON, Maurizio, MENIGATTI, Mirco, LOSI, Lorena, FORONI, Moira, DI GREGORIO, Carmela, ROSSI, Giuseppina, PEDRONI, Monica, SALA, Elisa, VACCINA, Fabiana

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Clinical Implications of Girdin Protein Expression in Glioma von Liang, Peng, Liu, Qing, Ma, Shuyin, Zhao, Liwei

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Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations von Martorana, Davide, Bonatti, Francesco, Mozzoni, Paola, Vaglio, Augusto, Percesepe, Antonio

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Recurrent germline mutation in MSH2 arises frequently de novo von DESAI, D. C, LOCKMAN, J. C, WRIGHT, F. A, DE LA CHAPELLE, A, CHADWICK, R. B, XIN GAO, PERCESEPE, A, EVANS, D. G. R, MIYAKI, M, SIU TSAN YUEN, RADICE, P, MAHER, E. R

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Pathogenesis of colorectal cancer von Ponz de Leon, M., Percesepe, A.

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The I1307K polymorphism of the APC gene in colorectal cancer von Prior, Thomas W., Chadwick, Robert B., Papp, Audrey C., Arcot, Anuradha N., Isa, Alexandra M., Pearl, Dennis K., Stemmermann, Grant, Percesepe, Antonio, Loukola, Anu, Aaltonen, Lauri A., de la Chapelle, Albert

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Non-invasive first trimester fetal gender assignment in pregnancies at risk for X-linked recessive diseases von Mazza, V., Falcinelli, C., Percesepe, A., Paganelli, S., Volpe, A., Forabosco, A.

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