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

Germline-Somatic Liaison Dictates Cancer Subtypes via de novo Steroid Biosynthesis.

生殖细胞-体细胞联系通过从头合成类固醇决定癌症亚型。

Gasperini Paola, Alaimo Alessandro, Stringa Blerta, Chung Yoon-Mi, Ciani Yari, Lorenzin Francesca, Fracassi Giulia, Zekri Yanis, Orlando Francesco, Quaini Orsetta, Gregoricchio Sebastian, Petris Gianluca, Casini Antonio, Barbieri Christopher E, Zwart Wilbert, Cereseto Anna, Sharifi Nima, Lunardi Andrea, Demichelis Francesca

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype

进一步阐明 AUTS2 HX 重复结构域相关表型

Erdogan, Esin Nur; Cheng, Chi Vicky; Caraffi, Stefano G; Ivanovski, Ivan; Piatelli, Gianluca; Errichiello, Edoardo; Papavasiliou, Antigone S; Vasileiou, Georgia; Reis, André; Prince, Bradley; Hickey, Scott E; Koboldt, Daniel C; Schneider, Michael C; Porrmann, Joseph; Di Donato, Nataliya; Leis, Thomas; Perry, M Scott; Humberson, Jennifer; Rotenberg, Joshua; Bakhtiari, Somayeh; Magee, Helen; Kheradmand, Shaydah; Kruer, Michael C; Swale, Andrew; Weber, Astrid; Landes, Caren; Zuffardi, Orsetta; Garavelli, Livia; van Haeringen, Arie; Ruivenkamp, Claudia A L; Pauly, Melissa; Au, Ping Yee Billie; Dobyns, William B; Aldinger, Kimberly A

Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case

宪法副本编号扩充:罕见还是被低估?重审一桩25年前的悬案

Salvo, Eliana; Tenconi, Romano; Giorda, Roberto; Bertuzzo, Sara; Cesana, Luca; Murru, Roberta; Giglio, Sabrina; Mehrjouy, Mana M; Tommerup, Niels; Zuffardi, Orsetta; Bonaglia, Maria Clara

Noninvasive Detection of Neuroendocrine Prostate Cancer through Targeted Cell-free DNA Methylation

通过靶向游离细胞 DNA 甲基化无创检测神经内分泌前列腺癌

Gian Marco Franceschini, Orsetta Quaini, Kei Mizuno, Francesco Orlando, Yari Ciani, Sheng-Yu Ku, Michael Sigouros, Emily Rothmann, Alicia Alonso, Matteo Benelli, Caterina Nardella, Joonghoon Auh, Dory Freeman, Brian Hanratty, Mohamed Adil, Olivier Elemento, Scott T Tagawa, Felix Y Feng, Orazio Caffo

Dry eye disease and spondyloarthritis: expanding the spectrum of systemic inflammatory disorders associated with ocular surface disease. Data from the international AIDA Network Spondyloarthritis Registry

干眼症和脊柱关节炎:拓展与眼表疾病相关的全身性炎症性疾病谱。来自国际AIDA网络脊柱关节炎注册研究的数据

Vitale, Antonio; Caggiano, Valeria; Martín-Nares, Eduardo; Di Meglio, Nunzia; Sica, Cristian; Hinojosa-Azaola, Andrea; Perfetti, Maria Orsetta; Pagliara, Alessandra; Guidetti, Giorgia; Fonollosa, Alex; Lopez, Roberta; Sbalchiero, Jessica; Sota, Jurgen; Carreño, Ester; Kawakami-Campos, Perla Ayumi; Gentileschi, Stefano; de-la-Torre, Alejandra; Tosi, Gian Marco; Mazzei, Maria Antonietta; Balistreri, Alberto; Frediani, Bruno; Cantarini, Luca; Fabiani, Claudia

Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

出版商更正:Lbx1/Fgf8基因座基因表达的组合效应可解决裂手/裂足畸形3型

Cova, Giulia; Glaser, Juliane; Schöpflin, Robert; Prada-Medina, Cesar Augusto; Ali, Salaheddine; Franke, Martin; Falcone, Rita; Federer, Miriam; Ponzi, Emanuela; Ficarella, Romina; Novara, Francesca; Wittler, Lars; Timmermann, Bernd; Gentile, Mattia; Zuffardi, Orsetta; Spielmann, Malte; Mundlos, Stefan

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

Lbx1/Fgf8基因座基因表达的组合效应可解决3型手足分裂畸形

Giulia Cova #, Juliane Glaser #, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

ESAM紧密连接基因的双等位基因变异会导致一种与胎儿颅内出血相关的神经发育障碍。

Lecca, Mauro; Pehlivan, Davut; Suñer, Damià Heine; Weiss, Karin; Coste, Thibault; Zweier, Markus; Oktay, Yavuz; Danial-Farran, Nada; Rosti, Vittorio; Bonasoni, Maria Paola; Malara, Alessandro; Contrò, Gianluca; Zuntini, Roberta; Pollazzon, Marzia; Pascarella, Rosario; Neri, Alberto; Fusco, Carlo; Marafi, Dana; Mitani, Tadahiro; Posey, Jennifer Ellen; Bayramoglu, Sadik Etka; Gezdirici, Alper; Hernandez-Rodriguez, Jessica; Cladera, Emilia Amengual; Miravet, Elena; Roldan-Busto, Jorge; Ruiz, María Angeles; Bauzá, Cristofol Vives; Ben-Sira, Liat; Sigaudy, Sabine; Begemann, Anaïs; Unger, Sheila; Güngör, Serdal; Hiz, Semra; Sonmezler, Ece; Zehavi, Yoav; Jerdev, Michael; Balduini, Alessandra; Zuffardi, Orsetta; Horvath, Rita; Lochmüller, Hanns; Rauch, Anita; Garavelli, Livia; Tournier-Lasserve, Elisabeth; Spiegel, Ronen; Lupski, James R; Errichiello, Edoardo

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

KBG综合征神经影像学和骨骼特征的深度表型分析:一项包含53例患者的研究及文献综述

Peluso, Francesca; Caraffi, Stefano G; Contrò, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A; Farholt, Stense; Ferreira, Carlos R; Wolfe, Lynne A; Gahl, William A; Gnazzo, Maria; Goel, Himanshu; Grønborg, Sabine Weller; Hammer, Trine; Iughetti, Lorenzo; Kleefstra, Tjitske; Koolen, David A; Lepri, Francesca Romana; Lemire, Gabrielle; Louro, Pedro; McCullagh, Gary; Madeo, Simona F; Milone, Annarita; Milone, Roberta; Nielsen, Jens Erik Klint; Novelli, Antonio; Ockeloen, Charlotte W; Pascarella, Rosario; Pippucci, Tommaso; Ricca, Ivana; Robertson, Stephen P; Sawyer, Sarah; Falkenberg Smeland, Marie; Stegmann, Sander; Stumpel, Constanze T; Goel, Amy; Taylor, Juliet M; Barbuti, Domenico; Soresina, Annarosa; Bedeschi, Maria Francesca; Battini, Roberta; Cavalli, Anna; Fusco, Carlo; Iascone, Maria; Van Maldergem, Lionel; Venkateswaran, Sunita; Zuffardi, Orsetta; Vergano, Samantha; Garavelli, Livia; Bayat, Allan

Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome

RASA1相关毛细血管畸形-动静脉畸形综合征的产前临床发现

Coccia, Emanuele; Valeri, Lara; Zuntini, Roberta; Caraffi, Stefano Giuseppe; Peluso, Francesca; Pagliai, Luca; Vezzani, Antonietta; Pietrangiolillo, Zaira; Leo, Francesco; Melli, Nives; Fiorini, Valentina; Greco, Andrea; Lepri, Francesca Romana; Pisaneschi, Elisa; Marozza, Annabella; Carli, Diana; Mussa, Alessandro; Radio, Francesca Clementina; Conti, Beatrice; Iascone, Maria; Gargano, Giancarlo; Novelli, Antonio; Tartaglia, Marco; Zuffardi, Orsetta; Bedeschi, Maria Francesca; Garavelli, Livia