DE LUCA, ALESSANDRO
DE LUCA, ALESSANDRO
Dipartimento di Informatica/DI
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1
2020-01-01 Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic-Vuksanovic, Dusica; Baker, Laura; Basel, Donald G; Bengala, Mario; Bennett, James T; Chambers, Chelsea; Clarkson, Lola K; Clementi, Maurizio; Cortés, Fanny M; Cunningham, Mitch; D'Agostino, M Daniela; Delatycki, Martin B; Digilio, Maria C; Dosa, Laura; Esposito, Silvia; Fox, Stephanie; Freckmann, Mary-Louise; Fauth, Christine; Giugliano, Teresa; Giustini, Sandra; Goetsch, Allison; Goldberg, Yael; Greenwood, Robert S; Griffis, Cristin; Gripp, Karen W; Gupta, Punita; Haan, Eric; Hachen, Rachel K; Haygarth, Tamara L; Hernández-Chico, Concepción; Hodge, Katelyn; Hopkin, Robert J; Hudgins, Louanne; Janssens, Sandra; Keller, Kory; Kelly-Mancuso, Geraldine; Kochhar, Aaina; Korf, Bruce R; Lewis, Andrea M; Liebelt, Jan; Lichty, Angie; Listernick, Robert H; Lyons, Michael J; Maystadt, Isabelle; Martinez Ojeda, Mayra; Mcdougall, Carey; Mcgregor, Lesley K; Melis, Daniela; Mendelsohn, Nancy; Nowaczyk, Malgorzata J M; Ortenberg, June; Panzer, Karin; Pappas, John G; Pierpont, Mary Ella; Piluso, Giulio; Pinna, Valentina; Pivnick, Eniko K; Pond, Dinel A; Powell, Cynthia M; Rogers, Caleb; Ruhrman Shahar, Noa; Rutledge, S Lane; Saletti, Veronica; Sandaradura, Sarah A; Santoro, Claudia; Schatz, Ulrich A; Schreiber, Allison; Scott, Daryl A; Sellars, Elizabeth A; Sheffer, Ruth; Siqveland, Elizabeth; Slopis, John M; Smith, Rosemarie; Spalice, Alberto; Stockton, David W; Streff, Haley; Theos, Amy; Tomlinson, Gail E; Tran, Grace; Trapane, Pamela L; Trevisson, Eva; Ullrich, Nicole J; Van den Ende, Jenneke; Schrier Vergano, Samantha A; Wallace, Stephanie E; Wangler, Michael F; Weaver, David D; Yohay, Kaleb H; Zackai, Elaine; Zonana, Jonathan; Zurcher, Vickie; Claes, Kathleen B M; Eoli, Marica; Martin, Yolanda; Wimmer, Katharina; De Luca, Alessandro; Legius, Eric; Messiaen, Ludwine M
FOXI3 pathogenic variants cause one form of craniofacial microsomia
2023-01-01 Mao, Ke; Borel, Christelle; Ansar, Muhammad; Jolly, Angad; Makrythanasis, Periklis; Froehlich, Christine; Iwaszkiewicz, Justyna; Wang, Bingqing; Xu, Xiaopeng; Li, Qiang; Blanc, Xavier; Zhu, Hao; Chen, Qi; Jin, Fujun; Ankamreddy, Harinarayana; Singh, Sunita; Zhang, Hongyuan; Wang, Xiaogang; Chen, Peiwei; Ranza, Emmanuelle; Paracha, Sohail Aziz; Shah, Syed Fahim; Guida, Valentina; Piceci-Sparascio, Francesca; Melis, Daniela; Dallapiccola, Bruno; Digilio, Maria Cristina; Novelli, Antonio; Magliozzi, Monia; Fadda, Maria Teresa; Streff, Haley; Machol, Keren; Lewis, Richard A; Zoete, Vincent; Squeo, Gabriella Maria; Prontera, Paolo; Mancano, Giorgia; Gori, Giulia; Mariani, Milena; Selicorni, Angelo; Psoni, Stavroula; Fryssira, Helen; Douzgou, Sofia; Marlin, Sandrine; Biskup, Saskia; De Luca, Alessandro; Merla, Giuseppe; Zhao, Shouqin; Cox, Timothy C; Groves, Andrew K; Lupski, James R; Zhang, Qingguo; Zhang, Yong-Biao; Antonarakis, Stylianos E
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 | 1-gen-2020 | Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic-Vuksanovic, Dusica; Baker, Laura; Basel, Donald G; Bengala, Mario; Bennett, James T; Chambers, Chelsea; Clarkson, Lola K; Clementi, Maurizio; Cortés, Fanny M; Cunningham, Mitch; D'Agostino, M Daniela; Delatycki, Martin B; Digilio, Maria C; Dosa, Laura; Esposito, Silvia; Fox, Stephanie; Freckmann, Mary-Louise; Fauth, Christine; Giugliano, Teresa; Giustini, Sandra; Goetsch, Allison; Goldberg, Yael; Greenwood, Robert S; Griffis, Cristin; Gripp, Karen W; Gupta, Punita; Haan, Eric; Hachen, Rachel K; Haygarth, Tamara L; Hernández-Chico, Concepción; Hodge, Katelyn; Hopkin, Robert J; Hudgins, Louanne; Janssens, Sandra; Keller, Kory; Kelly-Mancuso, Geraldine; Kochhar, Aaina; Korf, Bruce R; Lewis, Andrea M; Liebelt, Jan; Lichty, Angie; Listernick, Robert H; Lyons, Michael J; Maystadt, Isabelle; Martinez Ojeda, Mayra; Mcdougall, Carey; Mcgregor, Lesley K; Melis, Daniela; Mendelsohn, Nancy; Nowaczyk, Malgorzata J M; Ortenberg, June; Panzer, Karin; Pappas, John G; Pierpont, Mary Ella; Piluso, Giulio; Pinna, Valentina; Pivnick, Eniko K; Pond, Dinel A; Powell, Cynthia M; Rogers, Caleb; Ruhrman Shahar, Noa; Rutledge, S Lane; Saletti, Veronica; Sandaradura, Sarah A; Santoro, Claudia; Schatz, Ulrich A; Schreiber, Allison; Scott, Daryl A; Sellars, Elizabeth A; Sheffer, Ruth; Siqveland, Elizabeth; Slopis, John M; Smith, Rosemarie; Spalice, Alberto; Stockton, David W; Streff, Haley; Theos, Amy; Tomlinson, Gail E; Tran, Grace; Trapane, Pamela L; Trevisson, Eva; Ullrich, Nicole J; Van den Ende, Jenneke; Schrier Vergano, Samantha A; Wallace, Stephanie E; Wangler, Michael F; Weaver, David D; Yohay, Kaleb H; Zackai, Elaine; Zonana, Jonathan; Zurcher, Vickie; Claes, Kathleen B M; Eoli, Marica; Martin, Yolanda; Wimmer, Katharina; De Luca, Alessandro; Legius, Eric; Messiaen, Ludwine M | |
| FOXI3 pathogenic variants cause one form of craniofacial microsomia | 1-gen-2023 | Mao, Ke; Borel, Christelle; Ansar, Muhammad; Jolly, Angad; Makrythanasis, Periklis; Froehlich, Christine; Iwaszkiewicz, Justyna; Wang, Bingqing; Xu, Xiaopeng; Li, Qiang; Blanc, Xavier; Zhu, Hao; Chen, Qi; Jin, Fujun; Ankamreddy, Harinarayana; Singh, Sunita; Zhang, Hongyuan; Wang, Xiaogang; Chen, Peiwei; Ranza, Emmanuelle; Paracha, Sohail Aziz; Shah, Syed Fahim; Guida, Valentina; Piceci-Sparascio, Francesca; Melis, Daniela; Dallapiccola, Bruno; Digilio, Maria Cristina; Novelli, Antonio; Magliozzi, Monia; Fadda, Maria Teresa; Streff, Haley; Machol, Keren; Lewis, Richard A; Zoete, Vincent; Squeo, Gabriella Maria; Prontera, Paolo; Mancano, Giorgia; Gori, Giulia; Mariani, Milena; Selicorni, Angelo; Psoni, Stavroula; Fryssira, Helen; Douzgou, Sofia; Marlin, Sandrine; Biskup, Saskia; De Luca, Alessandro; Merla, Giuseppe; Zhao, Shouqin; Cox, Timothy C; Groves, Andrew K; Lupski, James R; Zhang, Qingguo; Zhang, Yong-Biao; Antonarakis, Stylianos E |