Identification of BRAF 3′UTR Isoforms in Melanoma

by Marranci, Andrea, Tuccoli, Andrea, Vitiello, Marianna, Mercoledi, Elisa, Sarti, Samanta, Lubrano, Simone, Evangelista, Monica, Fogli, Antonella, Valdes, Camilo, Russo, Francesco, Monte, Massimo Dal, Caligo, Maria A., Pellegrini, Marco, Capobianco, Enrico, Tsinoremas, Nicholas, Poliseno, Laura
Published in Journal of investigative dermatology

Germline investigation in male breast cancer of DNA repair genes by next-generation sequencing

by Scarpitta, R., Zanna, I., Aretini, P., Gambino, G., Scatena, C., Mei, B., Ghilli, M., Rossetti, E., Roncella, M., Congregati, C., Bonci, F., Naccarato, A. G., Palli, D., Caligo, M. A.
Published in Breast cancer research and treatment

PROMs in post-mastectomy care: Patient self-reports (BREAST-Q™) as a powerful instrument to personalize medical services

by Ghilli, M., Mariniello, M.D., Camilleri, V., Murante, A.M., Ferrè, F., Colizzi, L., Gennaro, M., Caligo, M.A., Scatena, C., Del Re, M., Nuti, S., Caramella, D., Roncella, M.
Published in European journal of surgical oncology

When to suspect infantile hypercalcemia-1?

by Brancatella, A, Cappellani, D, Pierotti, L, Dinoi, E, Sardella, C, Borsari, S, Piaggi, P, Baldinotti, F, Caligo, M A, Marcocci, C, Cetani, F
Published in Journal of endocrinological investigation

Evaluation of widely used models for predicting BRCA1 and BRCA2 mutations

by Marroni, F, Aretini, P, D’Andrea, E, Caligo, M A, Cortesi, L, Viel, A, Ricevuto, E, Montagna, M, Cipollini, G, Ferrari, S, Santarosa, M, Bisegna, R, Bailey-Wilson, J E, Bevilacqua, G, Parmigiani, G, Presciuttini, S
Published in Journal of medical genetics

Clinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome

by Dinoi, E., Pierotti, L., Mazoni, L., Citro, F., Della Valentina, S., Sardella, C., Borsari, S., Michelucci, A., Caligo, M. A., Marcocci, C., Cetani, F.
Published in Journal of endocrinological investigation

Genetic alterations in hereditary breast cancer

by Cipollini, G., Tommasi, S., Paradiso, A., Aretini, P., Bonatti, F., Brunetti, I., Bruno, M., Lombardi, G., Schittulli, F., Sensi, E., Tancredi, M., Bevilacqua, G., Caligo, M.A.
Published in Annals of oncology

Methyl group metabolism gene polymorphisms as modifier of breast cancer risk in Italian BRCA1/2 carriers

by PEPE, C, GUIDUGLI, L, BEVILACQUA, G, CALIGO, M. A, SENSI, E, ARETINI, P, D'ANDREA, E, MONTAGNA, M, MANOUKIAN, S, OTTINI, L, RADICE, P, VIEL, A
Published in Breast cancer research and treatment

Disorders of sexual development with XY karyotype and female phenotype: clinical findings and genetic background in a cohort from a single centre

by Costagliola, G., Cosci o di Coscio, M., Masini, B., Baldinotti, F., Caligo, M. A., Tyutyusheva, N., Sessa, M. R., Peroni, D., Bertelloni, S.
Published in Journal of endocrinological investigation

Whole exome sequencing in familial isolated primary hyperparathyroidism

by Cetani, F., Pardi, E., Aretini, P., Saponaro, F., Borsari, S., Mazoni, L., Apicella, M., Civita, P., La Ferla, M., Caligo, M. A., Lessi, F., Mazzanti, C. M., Torregossa, L., Oppo, A., Marcocci, C.
Published in Journal of endocrinological investigation

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

by Kirchhoff, Tomas, Gaudet, Mia M, Antoniou, Antonis C, Humphreys, Manjeet K, Dunning, Alison M, Bojesen, Stig E, Flyger, Henrik, Yoo, Keun-Young, Noh, Dong-Young, Dork, Thilo, Schürmann, Peter, Karstens, Johann H, Hillemanns, Peter, Couch, Fergus J, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Elliott, Graeme, Reed, Malcolm W R, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, Schmidt, Marjanka K, Van 't Veer, Laura J, Braaf, Linde M, Johnson, Nichola, Fletcher, Olivia, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Hsiung, Chia-Ni, Shen, Chen-Yang, Hammet, Fleur, Van Dorpe, Thijs, Hatse, Sigrid, Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Juri I, Bermisheva, Marina, Khusnutdinova, Elza, van Asperen, Christi J, Tollenaar, Robert A E M, Devilee, Peter, Margolin, Sara, Lindblom, Annika, Milne, Roger L, Arias, José Ignacio, Zamora, M Pilar, Severi, Gianluca, Baglietto, Laura, Giles, Graham G, Beesley, Jonathan, Chen, Xiaoqing, Healey, Sue, Wang-Gohrke, Shan, Kosma, Veli-Matti, Kauppinen, Jaana, Agnarsson, Bjarni A, Godwin, Andrew K, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, Nathanson, Katherine L, Domchek, Susan M, Loman, Niklas, Karlsson, Per, Melin, Beatrice, von Wachenfeldt, Anna, Hogervorst, Frans B L, Rookus, Matti A, Oldenburg, Rogier A, Ligtenberg, Marjolijn J, Ausems, Margreet G E M, Aalfs, Cora M, Wijnen, Juul T, Gómez García, Encarna B, Cook, Margaret, Oliver, Clare T, Frost, Debra, Luccarini, Craig, Pichert, Gabriella, Davidson, Rosemarie, Chu, Carol, Ong, Kai-Ren, Douglas, Fiona, Hodgson, Shirley, Evans, D Gareth, Eeles, Rosalind, Gold, Bert, Pharoah, Paul D P, Offit, Kenneth, Chenevix-Trench, Georgia, Easton, Douglas F
Published in PloS one

Reply to BRCA2 splice site mutations in an Italian breast/ovarian cancer family

by Pensabene, M., Spagnoletti, I., Capuano, I., Condello, C., Pepe, S., Contegiacomo, A., Lombardi, G., Bevilacqua, G., Caligo, M.A.
Published in Annals of oncology

Identification of BRAF 3'UTR Isoforms in Melanoma

by Marranci, Andrea, Tuccoli, Andrea, Vitiello, Marianna, Mercoledi, Elisa, Sarti, Samanta, Lubrano, Simone, Evangelista, Monica, Fogli, Antonella, Valdes, Camilo, Russo, Francesco, Monte, Massimo Dal, Caligo, Maria A, Pellegrini, Marco, Capobianco, Enrico, Tsinoremas, Nicholas, Poliseno, Laura
Published in Journal of investigative dermatology

Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature

by Bertini, Veronica, Valetto, Angelo, Baldinotti, Fulvia, Azzarà, Alessia, Cambi, Francesca, Toschi, Benedetta, Giacomina, Alessandro, Gatti, Gian L., Gana, Simone, Caligo, Maria A., Bertelloni, Silvano
Published in Molecular syndromology

Correction to: Whole exome sequencing in familial isolated primary hyperparathyroidism

by Cetani, F., Pardi, E., Aretini, P., Saponaro, F., Borsari, S., Mazoni, L., Apicella, M., Civita, P., La Ferla, M., Caligo, M. A., Lessi, F., Mazzanti, C. M., Torregrossa, L., Oppo, A., Marcocci, C.
Published in Journal of endocrinological investigation

Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families : Results of an international study

by NEUHAUSEN, S. L, MAZOYER, S, SOLOMON, E, WEBER, B, COUCH, F, STRUEWING, J, TONIN, P, DUROCHER, F, NAROD, S, SKOLNICK, M. H, LENOIR, G, SEROVA, O, FRIEDMAN, L, PONDER, B, STOPPA-LYONNET, D, EASTON, D, KING, M.-C, GOLDGAR, D. E, STRATTON, M, OFFIT, K, CALIGO, A, TOMLINSON, G, CANNON-ALBRIGHT, L, BISHOP, T, KELSELL, D
Published in American journal of human genetics

Abstract 1859: Bioinformatic and experimental evaluation of regulatory variants in breast cancer susceptibility genes

by Sevcik, Jan, Burke, Leslie, Gambino, Gaetana, Brewster, Brooke L., Tudini, Emma, Whiley, Philip J., Manoukian, Siranoush, van Overeem Hansen, Thomas, Santamariña Pena, Marta, Vega, Ana, Caligo, Maria A., Radice, Paolo, Peterlongo, Paolo, Rouleau, Etienne, Spurdle, Amanda B., Brown, Melissa A.
Published in Cancer research (Chicago, Ill.)

Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours

by GHIMENTI, C, TANNERGARD, P, WAHLBERG, S, LIU, T, GIULIANOTTI, P. G, MOSCA, F, FORNACIARI, G, BEVILACQUA, G, LINDBLOM, A, CALIGO, M. A
Published in British Journal of Cancer

Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31

by Permuth-Wey, Jennifer, Shen, Howard C, Tyrer, Jonathan P, Chen, Zhihua, Lin, Hui-Yi, Chen, Y Ann, Ramus, Susan J, Karevan, Rod, Larson, Melissa C, Anton-Culver, Hoda, Armasu, Sebastian M, Bacot, François, Bandera, Elisa V, Barnholtz-Sloan, Jill, Bloom, Greg, Brooks-Wilson, Angela, Brown, Robert, Butzow, Ralf, Cai, Qiuyin, Campbell, Ian, Chenevix-Trench, Georgia, Coetzee, Gerhard A, Cook, Linda S, Couch, Fergus J, Cramer, Daniel W, Cunningham, Julie M, Despierre, Evelyn, Doherty, Jennifer A, du Bois, Andreas, Dürst, Matthias, Easton, Douglas F, Edwards, Robert, Ekici, Arif B, Fenstermacher, David A, Flanagan, James M, Garcia-Closas, Montserrat, Goodman, Marc T, Gore, Martin, Gronwald, Jacek, Halle, Mari K, Harter, Philipp, Hillemanns, Peter, Høgdall, Claus K, Hosono, Satoyo, Jakubowska, Anna, Jensen, Allan, Jim, Heather, Kalli, Kimberly R, Kaye, Stanley B, Kelemen, Linda E, Kikkawa, Fumitaka, Konecny, Gottfried E, Krakstad, Camilla, Kjaer, Susanne Krüger, Kupryjanczyk, Jolanta, Lancaster, Johnathan M, Le, Nhu D, Liang, Dong, Lim, Boon Kiong, Lin, Jie, Lissowska, Jolanta, Lu, Karen H, Matsuo, Keitaro, Moysich, Kirsten B, Ness, Roberta B, Nevanlinna, Heli, Odunsi, Kunle, Orlow, Irene, Pejovic, Tanja, Pike, Malcolm C, Poole, Elizabeth M, Renner, Stefan P, Rodriguez-Rodriguez, Lorna, Rossing, Mary Anne, Rzepecka, Iwona K, Salvesen, Helga B, Severi, Gianluca, Shu, Xiao-Ou, Shvetsov, Yurii B, Song, Honglin, Spiewankiewicz, Beata, Stram, Daniel, Sutphen, Rebecca, Teo, Soo-Hwang, Terry, Kathryn L, Thompson, Pamela J, van Altena, Anne M, Vergote, Ignace, Vierkant, Robert A, Wang-Gohrke, Shan, Palmieri Weber, Rachel, Wik, Elisabeth, Wilkens, Lynne R, Woo, Yin Ling, Ziogas, Argyrios, Phelan, Catherine M, Berchuck, Andrew, Fridley, Brooke L, Pharoah, Paul D P, Sellers, Thomas A
Published in Nature communications

Haplotype and Phenotype Analysis of Nine Recurrent BRCA2 Mutations in 111 Families: Results of an International Study

by Neuhausen, Susan L., Godwin, Andrew K., Gershoni-Baruch, Ruth, Schubert, Elizabeth, Garber, Judy, Stoppa-Lyonnet, Dominique, Olah, Edith, Csokay, Bela, Serova, Olga, Lalloo, Fiona, Osorio, Ana, Stratton, Michael, Offit, Kenneth, Boyd, Jeff, Caligo, M. Adelaide, Scott, Rodney J., Schofield, Andy, Teugels, Eric, Schwab, Manfred, Cannon-Albright, Lisa, Bishop, Timothy, Easton, Douglas, Benitez, Javier, King, Mary-Claire, Ponder, Bruce A.J., Weber, Barbara, Devilee, Peter, Borg, Åke, Narod, Steven A., Goldgar, David
Published in American journal of human genetics