Association of protein S p.Pro667Pro dimorphism with plasma protein S levels in normal individuals and patients with inherited protein S deficiency von Castaman, G, Biguzzi, E, Razzari, C, Tosetto, A, Fontana, G, Asti, D, Brancaccio, V, Castori, D, Lane, D.A, Faioni, E.M

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Neuropathic Pain Is a Common Feature in Ehlers-Danlos Syndrome von Camerota, Filippo, MD, Celletti, Claudia, MD, Castori, Marco, MD, Grammatico, Paola, PhD, Padua, Luca, MD, PhD

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Authors’ Reply von Castori, Marco, MD, Celletti, Claudia, MD, Camerota, Filippo, MD

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A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome von Castori, Marco, MD, Covaciu, Claudia, MD, PhD, Rinaldi, Rosanna, MD, Grammatico, Paola, PhD, Paradisi, Mauro, MD

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Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features von Guerra, L., Castori, M., Didona, B., Castiglia, D., Zambruno, G.

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Dual role of tumour-infiltrating T helper 17 cells in human colorectal cancer von Amicarella, F, Muraro, M G, Hirt, C, Cremonesi, E, Padovan, E, Mele, V, Governa, V, Han, J, Huber, X, Droeser, R A, Zuber, M, Adamina, M, Bolli, M, Rosso, R, Lugli, A, Zlobec, I, Terracciano, L, Tornillo, L, Zajac, P, Eppenberger-Castori, S, Trapani, F, Oertli, D, Iezzi, G

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Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy von Guerra, L., Castori, M., Didona, B., Castiglia, D., Zambruno, G.

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Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial von Lanfranconi, Silvia, Scola, Elisa, Bertani, Giulio Andrea, Zarino, Barbara, Pallini, Roberto, d'Alessandris, Giorgio, Mazzon, Emanuela, Marino, Silvia, Carriero, Maria Rita, Scelzo, Emma, Farago, Giuseppe, Castori, Marco, Fusco, Carmela, Petracca, Antonio, d'Agruma, Leonardo, Tassi, Laura, d'Orio, Piergiorgio, Lampugnani, Maria Grazia, Nicolis, Enrico Bjorn, Vasami, Antonella, Novelli, Deborah, Torri, Valter, Meessen, Jennifer Marie Theresia Anna, Salman, Rustam Al-Shahi, Dejana, Elisabetta, Latini, Roberto

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Identification of a long non-coding RNA as a novel biomarker and potential therapeutic target for metastatic prostate cancer von Crea, Francesco, Watahiki, Akira, Quagliata, Luca, Xue, Hui, Pikor, Larissa, Parolia, Abhijit, Wang, Yuwei, Lin, Dong, Lam, Wan L, Farrar, William L, Isogai, Takao, Morant, Rudolf, Castori-Eppenberger, Serenella, Chi, Kim N, Wang, Yuzhuo, Helgason, Cheryl D

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Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association von Cesana, M., Vaccaro, L., Larsen, M. J., Kibæk, M., Micale, L., Riccardo, S., Annunziata, P., Colantuono, C., Di Filippo, L., De Brasi, D., Castori, M., Fagerberg, C., Acquaviva, F., Cacchiarelli, D.

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Integrated analysis of the prostate cancer small-nucleolar transcriptome reveals SNORA55 as a driver of prostate cancer progression von Crea, Francesco, Quagliata, Luca, Michael, Agnieszka, Liu, Hui Hsuan, Frumento, Paolo, Azad, Arun A., Xue, Hui, Pikor, Larissa, Watahiki, Akira, Morant, Rudolf, Eppenberger-Castori, Serenella, Wang, Yuwei, Parolia, Abhijit, Lennox, Kim A., Lam, Wan L., Gleave, Martin, Chi, Kim N., Pandha, Hardev, Wang, Yuzhuo, Helgason, Cheryl D.

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High Expression of FAP in Colorectal Cancer Is Associated With Angiogenesis and Immunoregulation Processes von Coto-Llerena, Mairene, Ercan, Caner, Kancherla, Venkatesh, Taha-Mehlitz, Stephanie, Eppenberger-Castori, Serenella, Soysal, Savas D., Ng, Charlotte K. Y., Bolli, Martin, von Flue, Markus, Nicolas, Guillaume P., Terracciano, Luigi M., Fani, Melpomeni, Piscuoglio, Salvatore

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Pachydermoperiostosis: an update von Castori, M, Sinibaldi, L, Mingarelli, R, Lachman, RS, Rimoin, DL, Dallapiccola, B

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NSCLC Subtyping in Conventional Cytology: Results of the International Association for the Study of Lung Cancer Cytology Working Group Survey to Determine Specific Cytomorphologic... von Jain, Deepali, Nambirajan, Aruna, Chen, Gang, Geisinger, Kim, Hiroshima, Kenzo, Layfield, Lester, Minami, Yuko, Moreira, Andre L., Motoi, Noriko, Papotti, Mauro, Rekhtman, Natasha, Russell, Prudence A., Prince, Spasenija Savic, Schmitt, Fernando, Yatabe, Yasushi, Eppenberger-Castori, Serenella, Bubendorf, Lukas, Beasley, Mary Beth, Berezowska, Sabina, Borczuk, Alain, Brambilla, Elizabeth, Chou, Teh-Ying, Chung, Jin-Haeng, Cooper, Wendy, Dacic, Sanja, Chan, Yuchen, Hirsch, Fred R., Hwang, David, Joubert, Philippe, Kerr, Keith, Lantuejoul, Sylvie, Lin, Dongmei, Lopez-Rios, Fernando, Matsubara, Daisuke, Mino-Kenudson, Mari, Nicholson, Andrew, Poleri, Claudia, Roden, Anja, Schalper, Kurt, Sholl, Lynette, Thunnissen, Erik, Travis, William D., Tsao, Ming, Wistuba, Ignacio, Chen, Gang

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A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations von Ritelli, M., Morlino, S., Giacopuzzi, E., Bernardini, L., Torres, B., Santoro, G., Ravasio, V., Chiarelli, N., D'Angelantonio, D., Novelli, A., Grammatico, P., Colombi, M., Castori, M.

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Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG) von LAINE, C. M, CHUNG, B. D, COLE, W. G, NETZER, C, MÄKITIE, O, SUSIC, M, PRESCOTT, T, SEMLER, O, FISKERSTRAND, T, D'EUFEMIA, P, CASTORI, M, PEKKINEN, M, SOCHETT, E

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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders von Valente, Enza Maria, Brancati, Francesco, Silhavy, Jennifer L., Castori, Marco, Marsh, Sarah E., Barrano, Giuseppe, Bertini, Enrico, Boltshauser, Eugen, Zaki, Maha S., Abdel-Aleem, Alice, Abdel-Salam, Ghada M. H., Bellacchio, Emanuele, Battini, Roberta, Cruse, Robert P., Dobyns, William B., Krishnamoorthy, Kalpathy S., Lagier-Tourenne, Clotilde, Magee, Alex, Pascual-Castroviejo, Ignacio, Salpietro, Carmelo D., Sarco, Dean, Dallapiccola, Bruno, Gleeson, Joseph G.

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OX40 expression enhances the prognostic significance of CD8 positive lymphocyte infiltration in colorectal cancer von Weixler, Benjamin, Cremonesi, Eleonora, Sorge, Roberto, Muraro, Manuele Giuseppe, Delko, Tarik, Nebiker, Christian A, Däster, Silvio, Governa, Valeria, Amicarella, Francesca, Soysal, Savas D, Kettelhack, Christoph, von Holzen, Urs W, Eppenberger-Castori, Serenella, Spagnoli, Giulio C, Oertli, Daniel, Iezzi, Giandomenica, Terracciano, Luigi, Tornillo, Luigi, Sconocchia, Giuseppe, Droeser, Raoul A

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Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity von Fallerini, Chiara, Picchiotti, Nicola, Baldassarri, Margherita, Zguro, Kristina, Daga, Sergio, Fava, Francesca, Benetti, Elisa, Amitrano, Sara, Bruttini, Mirella, Palmieri, Maria, Croci, Susanna, Lista, Mirjam, Beligni, Giada, Valentino, Floriana, Meloni, Ilaria, Tanfoni, Marco, Minnai, Francesca, Colombo, Francesca, Cabri, Enrico, Fratelli, Maddalena, Gabbi, Chiara, Mantovani, Stefania, Frullanti, Elisa, Gori, Marco, Crawley, Francis P., Butler-Laporte, Guillaume, Richards, Brent, Zeberg, Hugo, Lipcsey, Miklos, Hultström, Michael, Ludwig, Kerstin U., Schulte, Eva C., Pairo-Castineira, Erola, Baillie, John Kenneth, Schmidt, Axel, Frithiof, Robert, Mari, Francesca, Renieri, Alessandra, Furini, Simone

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TMJ Replacement Utilizing Patient-fitted TMJ TJR Devices in a Re-ankylosis Child von Cascone, Piero, PhD, MD, Basile, Emanuela, MD, Angeletti, Diletta, MD, Vellone, Valentino, MD, Ramieri, Valerio, MD

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