日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome

RAF1相关努南综合征中特定区域的表型特征

Gazzin, Andrea; Calvo, Marta; Rondot, Federico; Reynolds, Giuseppe; Leoni, Chiara; Niceta, Marcello; Dentici, Maria Lisa; Digilio, Maria Cristina; Lepri, Francesca; Monda, Emanuele; Carelli, Ilaria; Trevisson, Eva; Scala, Iris; Mancano, Giorgia; Andreucci, Elena; Stanzial, Franco; Brancati, Francesco; Zampino, Giuseppe; Tarani, Luigi; Paparella, Roberto; Carli, Diana; Villar, Anna Maria; Banaudi, Elena; Massuras, Stefania; Cardaropoli, Simona; Daniele, Paola; Airulo, Elena; Riggi, Chiara; Calcagni, Giulio; Ferrero, Giovanni Battista; Limongelli, Giuseppe; De Luca, Alessandro; Tartaglia, Marco; Mussa, Alessandro

Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities

分析语言能力极低的自闭症儿童和青少年的基因谱

Guerrera, Silvia; Venezia, Ilaria; Logrieco, Maria Grazia; Casula, Laura; Capolino, Rossella; Digilio, Maria Cristina; Dentici, Maria Lisa; Macchiaiolo, Marina; Casciani, Federico; Cortellessa, Fabiana; Sinibaldi, Lorenzo; Bartuli, Andrea; Di Tommaso, Silvia; D'Elia, Gemma; Alesi, Viola; Roberti, Cristina; Novelli, Antonio; Valeri, Giovanni; Vicari, Stefano

Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies

进一步探索TRRAP基因型-表型相关性:三例新患者的报告,重点关注骨骼异常

Minotti, Chiara; Terreri, Sara; Del Fattore, Andrea; Lepri, Francesca Romana; Ruta, Rosario; Iascone, Maria; Pezzoli, Laura; Dentici, Maria Lisa; Novelli, Antonio; Armando, Michelina; Longo, Daniela; Novelli, Giuseppe; Barbuti, Domenico; Bartuli, Andrea; Cavallari, Ugo; Graziani, Ludovico; Digilio, Maria Cristina; Sinibaldi, Lorenzo

Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies

杂合变异体破坏了ERF与激活的ERK1/2的相互作用,导致小头畸形、发育迟缓和骨骼异常。

Micale, Lucia; Vourlia, Aikaterini; Fusco, Carmela; Pracella, Riccardo; Karagiannis, Dimitrios-Christoforos; Nardella, Grazia; Vaccaro, Lorenzo; Leone, Maria Pia; Gramazio, Antonio; Dentici, Maria Lisa; Aiello, Chiara; Novelli, Antonio; Xenou, Lydia; Sui, Yang; Eichler, Evan E; Cacchiarelli, Davide; Mavrothalassitis, George; Castori, Marco

Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders

先天性膈疝和关节松弛:与遗传性结缔组织疾病的潜在联系

Di Pede, Alessandra; Magliozzi, Monia; Valfré, Laura; Dentici, Maria Lisa; Pugnaloni, Flaminia; Alesi, Viola; Conforti, Andrea; Capolupo, Irma; Braguglia, Annabella; Dotta, Andrea; Bagolan, Pietro; Novelli, Antonio; Digilio, Maria Cristina

Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features

Shashi-Pena综合征的临床变异性:一种与过度生长和轻微神经发育特征相关的新型ASXL2变异

Minotti, Chiara; Graziani, Ludovico; Micalizzi, Alessia; Dentici, Maria Lisa; Capolino, Rossella; Sinibaldi, Lorenzo; Lanari, Valentina; Dallapiccola, Bruno; Novelli, Giuseppe; Novelli, Antonio; Digilio, Maria Cristina

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

剪接体功能障碍会导致具有重叠特征的神经发育障碍。

Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R; Zhou, Yijing; Bosch, Daniëlle Gm; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K; Pérez-Jurado, Luis A; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Kremlikova Pourova, Radka; Sedlacek, Zdenek; Keena, Beth A; March, Michael E; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J; Harr, Margaret H; Lemire, Gabrielle; Boycott, Kym M; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M; Motazacker, Mahdi M; Martinez-Agosto, Julian A; Rabani, Ahna M; McCormick, Elizabeth M; Falk, Marni J; Ruggiero, Sarah M; Helbig, Ingo; Møller, Rikke S; Tessarollo, Lino; Tomassoni Ardori, Francesco; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M; Ganapathi, Mythily; Gelb, Bruce D; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Bruel, Ange-Line; Quelin, Chloé; Misra, Vinod K; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna Ce; Thompson, Michelle L; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C; Shashi, Vandana; Higginbotham, Edward J; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Tran Mau-Them, Frederic; Fernandez Garcia Moya, Luis; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Hadj Habdallah, Hamza; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert Ba; van Slegtenhorst, Marjon A; Brooks, Alice S; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism

歌舞伎综合征的DNA甲基化谱分析:生殖系KMT2D VUS的重新分类及验证合子后嵌合体的敏感性

Niceta, Marcello; Ciolfi, Andrea; Ferilli, Marco; Pedace, Lucia; Cappelletti, Camilla; Nardini, Claudia; Hildonen, Mathis; Chiriatti, Luigi; Miele, Evelina; Dentici, Maria Lisa; Gnazzo, Maria; Cesario, Claudia; Pisaneschi, Elisa; Baban, Anwar; Novelli, Antonio; Maitz, Silvia; Selicorni, Angelo; Squeo, Gabriella Maria; Merla, Giuseppe; Dallapiccola, Bruno; Tumer, Zeynep; Digilio, Maria Cristina; Priolo, Manuela; Tartaglia, Marco

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant

明确携带 RAF1:c.770C>T p.(Ser257Leu) 变异的 Noonan 综合征患者的变异-表型相关性

Gazzin, Andrea; Fornari, Federico; Niceta, Marcello; Leoni, Chiara; Dentici, Maria Lisa; Carli, Diana; Villar, Anna Maria; Calcagni, Giulio; Banaudi, Elena; Massuras, Stefania; Cardaropoli, Simona; Airulo, Elena; Daniele, Paola; Monda, Emanuele; Limongelli, Giuseppe; Riggi, Chiara; Zampino, Giuseppe; Digilio, Maria Cristina; De Luca, Alessandro; Tartaglia, Marco; Ferrero, Giovanni Battista; Mussa, Alessandro

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

ERF基因功能缺失变异与伴或不伴颅缝早闭的努南综合征样表型相关

Dentici, Maria Lisa; Niceta, Marcello; Lepri, Francesca Romana; Mancini, Cecilia; Priolo, Manuela; Bonnard, Adeline Alice; Cappelletti, Camilla; Leoni, Chiara; Ciolfi, Andrea; Pizzi, Simone; Cordeddu, Viviana; Rossi, Cesare; Ferilli, Marco; Mucciolo, Mafalda; Colona, Vito Luigi; Fauth, Christine; Bellini, Melissa; Biasucci, Giacomo; Sinibaldi, Lorenzo; Briuglia, Silvana; Gazzin, Andrea; Carli, Diana; Memo, Luigi; Trevisson, Eva; Schiavariello, Concetta; Luca, Maria; Novelli, Antonio; Michot, Caroline; Sweertvaegher, Anne; Germanaud, David; Scarano, Emanuela; De Luca, Alessandro; Zampino, Giuseppe; Zenker, Martin; Mussa, Alessandro; Dallapiccola, Bruno; Cavé, Helene; Digilio, Maria Cristina; Tartaglia, Marco