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

Prevalence and management of lower limb segmental overgrowth in patients with NF1: an observational study

NF1患者下肢节段性过度生长的患病率及治疗:一项观察性研究

Santoro, Claudia; Martin, Gabriele; Conza, Gianluca; Itro, Annalisa; Colonnese, Maria; Garofalo, Niccolò; Piluso, Giulio; Federico, Gianluigi; Paoletta, Marco; Liguori, Sara; Moretti, Antimo; Perrotta, Silverio; Toro, Giuseppe

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases

Telethon 未确诊疾病项目:以结构化方法解决罕见的儿童期发病遗传疾病

Torella, Annalaura; Morleo, Manuela; Spampanato, Carmine; Castello, Raffaele; Zanobio, Mariateresa; Piluso, Giulio; Di Letto, Pasquale; Onore, Maria Elena; Rahman, Sarah Iffat; Musacchia, Francesco; Pinelli, Michele; Vitiello, Giuseppina; De Riso, Giulia; Selicorni, Angelo; Mariani, Milena; Daolio, Cecilia; Capra, Valeria; Scala, Marcello; Nardecchia, Francesca; Galosi, Serena; Mastrangelo, Mario; Manti, Filippo; Milani, Donatella; Romano, Corrado; Greco, Donatella; Ciaccio, Claudia; D'Arrigo, Stefano; De Laurentiis, Arianna; Coppola, Antonietta; Zollino, Marcella; Pasquetti, Domizia; L'Erario, Federica Francesca; Tummolo, Albina; Santoro, Claudia; Garavelli, Livia; Marini, Carla; Bigoni, Stefania; Tirozzi, Alfonsina; Cetrangolo, Viviana; Parenti, Giancarlo; Di Bernardo, Diego; Peron, Angela; Maitz, Silvia; Accogli, Andrea; Cappuccio, Gerarda; Banfi, Sandro; Casari, Giorgio; Ballabio, Andrea; Brunetti-Pierri, Nicola; Nigro, Vincenzo

Polygenic prediction of body mass index and obesity through the life course and across ancestries

通过多基因预测,可以预测生命历程和不同祖先群体中的体重指数和肥胖情况。

Roelof A J Smit ,Kaitlin H Wade,Qin Hui,Joshua D Arias,Xianyong Yin,Malene R Christiansen,Loic Yengo,Michael H Preuss,Mariam Nakabuye,Ghislain Rocheleau ,Sarah E Graham,Victoria L Buchanan,Geetha Chittoor,Marielisa Graff,Marta Guindo-Martínez,Yingchang Lu,Eirini Marouli,Saori Sakaue ,Cassandra N Spracklen,Sailaja Vedantam,Emma P Wilson,Shyh-Huei Chen,Teresa Ferreira,Yingjie Ji,Tugce Karaderi,Kreete Lüll,Moara Machado,Deborah E Malden,Carolina Medina-Gomez,Amy Moore,Sina Rüeger,Masato Akiyama,Matthew A Allison,Marcus Alvarez,Mette K Andersen,Vivek Appadurai,Liubov Arbeeva,Eric Bartell ,Seema Bhaskar,Lawrence F Bielak,Joshua C Bis,Sailalitha Bollepalli,Jette Bork-Jensen,Jonathan P Bradfield,Yuki Bradford,Caroline Brandl,Peter S Braund,Jennifer A Brody,Ulrich Broeckel,Kristoffer S Burgdorf ,Brian E Cade,Qiuyin Cai,Silvia Camarda,Archie Campbell,Marisa Cañadas-Garre,Jin-Fang Chai,Alessandra Chesi,Seung Hoan Choi,Paraskevi Christofidou,Christian Couture,Gabriel Cuellar-Partida,Rebecca Danning,Frauke Degenhardt,Graciela E Delgado,Alessandro Delitala,Ayşe Demirkan,Xuan Deng,Alexander Dietl,Maria Dimitriou,Latchezar Dimitrov,Rajkumar Dorajoo,Fabian Eichelmann,Anders U Eliasen ,Jorgen E Engmann,Michael R Erdos,Zammy Fairhurst-Hunter,Aliki-Eleni Farmaki,Jessica D Faul,Juan-Carlos Fernandez-Lopez,Lukas Forer,Mirjam Frank,Sandra Freitag-Wolf,Lars G Fritsche,Christian Fuchsberger,Tessel E Galesloot,Yan Gao,Frank Geller,Olga Giannakopoulou,Franco Giulianini,Anette P Gjesing,Anuj Goel,Scott D Gordon,Mathias Gorski,Jakob Grove ,Xiuqing Guo,Stefan Gustafsson,Jeffrey Haessler,Thomas F Hansen ,Aki S Havulinna,Simon J Haworth,Nancy Heard-Costa,Daiane Hemerich,Heather M Highland,George Hindy,Yuk-Lam Ho,Edith Hofer,Elizabeth Holliday,Katrin Horn,Whitney E Hornsby,Jouke-Jan Hottenga,Hongyan Huang,Jie Huang,Alicia Huerta-Chagoya,Shaofeng Huo,Mi Yeong Hwang,Chii-Min Hwu,Hiroyuki Iha,Daisuke D Ikeda,Masato Isono,Anne U Jackson,Iris E Jansen,Yunxuan Jiang,Ingegerd Johansson,Anna Jonsson,Torben Jørgensen,Ioanna P Kalafati,Masahiro Kanai ,Stavroula Kanoni,Line L Kårhus,Anuradhani Kasturiratne,Tomohiro Katsuya,Takahisa Kawaguchi,Rachel L Kember,Katherine A Kentistou,Daeeun Kim,Han-Na Kim,Young Jin Kim,Marcus E Kleber,Maria J Knol,Azra Kurbasic,Marie Lauzon,Phuong Le,Rodney Lea,Jong-Young Lee,Wen-Jane Lee,Hampton L Leonard ,Hengtong Li,Shengchao A Li,Xiaohui Li,Xiaoyin Li,Jingjing Liang,Honghuang Lin,Kuang Lin,Jun Liu,Xueping Liu,Ken Sin Lo,Jirong Long,Laura Lores-Motta,Jian'an Luan,Valeriya Lyssenko,Leo-Pekka Lyytikäinen ,Anubha Mahajan,Md Zubbair Malik,Vasiliki Mamakou,Massimo Mangino,Ani Manichaikul,Jonathan Marten,Manuel Mattheisen ,Aaron F McDaid,Quanshun Mei,Heike Meiselbach,Tori L Melendez,Yuri Milaneschi,Jason E Miller,Iona Y Millwood,Pashupati P Mishra,Ruth E Mitchell,Line T Møllehave,Nina Mononen,Sören Mucha,Matthias Munz,Juha Mykkänen,Masahiro Nakatochi,Giuseppe Giovanni Nardone,Christopher P Nelson,Maria Nethander,Chu Won Nho,Aneta A Nielsen,Ilja M Nolte,Suraj S Nongmaithem,Raymond Noordam,Ioanna Ntalla,Teresa Nutile,Anita Pandit,Marc Pauper,Eva R B Petersen,Liselotte V Petersen,Francesco Piluso,Ozren Polašek,Alaitz Poveda,Saiju Pyarajan ,Laura M Raffield,Hiromi Rakugi,Julia Ramirez,Asif Rasheed,Dennis Raven,Nigel W Rayner,Carlos Riveros,Rebecca Rohde,Daniela Ruggiero,Sanni E Ruotsalainen,Kathleen A Ryan,Maria Sabater-Lleal ,Aurora Santin,Richa Saxena,Markus Scholz,Botong Shen,Jingchunzi Shi,Jae Hun Shin,Carlo Sidore,Julia Sidorenko,Xueling Sim,Roderick C Slieker,Albert V Smith,Jennifer A Smith,Laura J Smyth,Lorraine Southam,Valgerdur Steinthorsdottir,Liang Sun,Fumihiko Takeuchi,Kent D Taylor,Bamidele O Tayo,Catherine Tcheandjieu,Natalie Terzikhan,Paola Tesolin,Alexander Teumer,Elizabeth Theusch,Deborah J Thompson,Gudmar Thorleifsson,Paul R H J Timmers,Stella Trompet,Constance Turman,Simona Vaccargiu,Sander W van der Laan,Peter J van der Most,Jan B van Klinken ,Jessica van Setten,Shefali S Verma,Niek Verweij,Yogasudha Veturi,Carol A Wang,Chaolong Wang,Jun-Sing Wang,Lihua Wang,Ya Xing Wang,Zhe Wang,Helen R Warren,Wen Bin Wei,Wanqing Wen,William A Wheeler,Ananda R Wickremasinghe,Matthias Wielscher,Bendik S Winsvold,Andrew Wong,Matthias Wuttke,Rui Xia,Ken Yamamoto,Jingyun Yang,Jie Yao,Hannah Young,Noha A Yousri,Lei Yu,Lingyao Zeng,Weihua Zhang,Xinyuan Zhang,Jing-Hua Zhao,Wei Zhao,Wei Zhou ,Martina E Zimmermann,Magdalena Zoledziewska,Leen M 't Hart ,Linda S Adair,Hieab H H Adams,Carlos A Aguilar-Salinas,Fahd Al-Mulla,Donna K Arnett,Folkert W Asselbergs ,Bjørn Olav Åsvold ,John Attia,Bernhard Banas,Stefania Bandinelli,Lawrence J Beilin,David A Bennett,Tobias Bergler,Dwaipayan Bharadwaj,Ginevra Biino,Eric Boerwinkle,Carsten A Böger ,Judith B Borja,Claude Bouchard,Donald W Bowden,Ivan Brandslund,Ben Brumpton,Julie E Buring,Mark J Caulfield,John C Chambers ,Giriraj R Chandak,Stephen J Chanock,Nish Chaturvedi,Yii-Der Ida Chen,Zhengming Chen,Ching-Yu Cheng ,Yoon Shin Cho,Kaare Christensen,Ingrid E Christophersen,Marina Ciullo,John W Cole,Francis S Collins,Maria Pina Concas,Richard S Cooper,Miguel Cruz,Francesco Cucca,Michael J Cutler,Scott M Damrauer ,Thomas M Dantoft,Gert J de Borst,Eco J C de Geus,Lisette C P G M de Groot,Philip L De Jager,Dominique P V de Kleijn,H Janaka de Silva,George V Dedoussis,Anneke I den Hollander,Shufa Du,Douglas F Easton,Kai-Uwe Eckardt,Petra J M Elders,A Heather Eliassen ,Patrick T Ellinor ,Sölve Elmståhl,Jeanette Erdmann,Michele K Evans,Diane Fatkin ,Bjarke Feenstra,Mary F Feitosa,Luigi Ferrucci,Jose C Florez ,Ian Ford,Myriam Fornage,Andre Franke,Paul W Franks ,Barry I Freedman,Christian Gieger,Giorgia Girotto,Yvonne M Golightly,Clicerio Gonzalez-Villalpando,Penny Gordon-Larsen,Harald Grallert,Struan F A Grant ,Niels Grarup,Lyn Griffiths,Vilmundur Gudnason,Christopher Haiman,Hakon Hakonarson ,Torben Hansen,Catharina A Hartman,Andrew T Hattersley,Caroline Hayward,Iris M Heid,Chew-Kiat Heng,Christian Hengstenberg,Karl-Heinz Herzig,Alex W Hewitt ,Haretsugu Hishigaki,David M Hougaard,Carel B Hoyng,Paul L Huang ,Wei Huang,Wen-Yi Huang,Jennifer E Huffman,Steven C Hunt,Nina Hutri,Kristian Hveem,Elina Hyppönen,William G Iacono,Sahoko Ichihara,M Arfan Ikram,Carmen R Isasi,Marjo-Riitta Jarvelin ,Zi-Bing Jin,Karl-Heinz Jöckel,Jost B Jonas ,Peter K Joshi,Pekka Jousilahti,J Wouter Jukema ,Mika Kähönen,Yoichiro Kamatani,Kui Dong Kang,Jaakko Kaprio,Sharon L R Kardia,Fredrik Karpe,Norihiro Kato,Maryam Kavousi,Frank Kee,Thorsten Kessler,Amit V Khera ,Chiea Chuen Khor,Lambertus A L M Kiemeney,Bong-Jo Kim,Eung Kweon Kim,Hyung-Lae Kim,Paulus Kirchhof ,Mika Kivimaki,Woon-Puay Koh,Heikki A Koistinen ,Alexander Kokkinos,Jaspal S Kooner ,Charles Kooperberg,Peter Kovacs,Adriaan Kraaijeveld,Peter Kraft,Ronald M Krauss,Meena Kumari,Zoltan Kutalik,Markku Laakso,Leslie A Lange,Claudia Langenberg ,Lenore J Launer,Hyejin Lee,Nanette R Lee,Terho Lehtimäki,Rozenn N Lemaitre,Huaixing Li,Liming Li,Wolfgang Lieb,Xu Lin,Lars Lind,Allan Linneberg,Ching-Ti Liu,Jianjun Liu,Markus Loeffler,Barry London,Fan Lu,Steven A Lubitz ,David A Mackey,Patrik K E Magnusson,JoAnn E Manson ,Gregory M Marcus,Pedro Marques Vidal,Nicholas G Martin,Winfried März ,Fumihiko Matsuda,Mark I McCarthy,Robert W McGarrah,Matt McGue,Amy Jayne McKnight,Sarah E Medland,Dan Mellström,Andres Metspalu,Braxton D Mitchell ,Paul Mitchell,Dennis O Mook-Kanamori,Trevor A Mori,Andrew D M

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

出版商更正:对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer

1型神经纤维瘤病相关乳腺癌的亚型分布、临床表现和分子谱

Di Giosaffatte, Niccolò; Daniele, Paola; Petrizzelli, Francesco; Iacovino, Chiara; Canciani, Chiara; Garau, Maria Luisa; Santoro, Claudia; Trevisan, Valentina; Panfili, Arianna; Cavone, Stefania; Guida, Valentina; D'Asdia, Maria Cecilia; Bernardini, Laura; Majore, Silvia; Ferraris, Alessandro; Valiante, Michele; Gensini, Francesca; Radio, Francesca Clementina; Tortora, Giada; Cassina, Matteo; Miele, Giuseppina; Priolo, Manuela; Sirchia, Fabio; Piccinno, Ludovica; Flex, Elisabetta; Zampino, Giuseppe; Genuardi, Maurizio; Nigro, Vincenzo; Salviati, Leonardo; Papi, Laura; Grammatico, Paola; Leoni, Chiara; Piluso, Giulio; Giustini, Sandra; Mazza, Tommaso; Upadhyaya, Meena; Tartaglia, Marco; Trevisson, Eva; De Luca, Alessandro

Biallelic Variants in SLC27A3 Cause a Complex Form of Neurodegeneration with Brain Iron Accumulation

SLC27A3基因的双等位基因变异会导致一种复杂的神经退行性疾病,并伴有脑铁沉积。

Travaglini, Lorena; Jeon, Cherim; Rizza, Teresa; Novelli, Antonio; Specchio, Nicola; Piluso, Anna; Bertini, Enrico; Iuso, Arcangela; Garone, Giacomo

CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology

Bardet-Biedl综合征合并慢性肾脏病:支持多因素病因的证据

Zacchia, Miriam; Secondulfo, Floriana; Melluso, Andrea; Del Vecchio Blanco, Francesca; Di Iorio, Valentina; Torella, Anna Laura; Piluso, Giulio; Capolongo, Giovanna; Trepiccione, Francesco; Simonelli, Francesca; Nigro, Vincenzo; Perna, Alessandra; Capasso, Giovambattista

Associations of CD36 rs1761667 with Fat and Umami Food Perception, Diet Quality, and BMI in Two European Studies

两项欧洲研究表明,CD36 rs1761667 与脂肪和鲜味食物感知、饮食质量和 BMI 存在关联

Piluso, Francesco; Graham, Catherine Anne-Marie; Stevens, Harry; Camarda, Silvia; King, Alexandra; Pilic, Leta; Mavrommatis, Yiannis; Gasparini, Paolo; Concas, Maria Pina

Noninvasive Imaging of Transgene Expression in Neurons Using Chemical Exchange Saturation Transfer MRI

利用化学交换饱和转移磁共振成像技术对神经元中的转基因表达进行无创成像

Flament, Julien; Pépin, Jérémy; Maugard, Marianne; Gaudin, Mylène; Cohen, Léa; Jan, Caroline; Valette, Julien; Piluso, Sébastien; Delzescaux, Thierry; Bonvento, Gilles

A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant

在两个无关家庭的三名患有多种垂体激素缺乏症的儿童中发现LHX4基因的新型错义变异,以及GLI2和IGFR1基因变异的额外作用

Santoro, Claudia; Aiello, Francesca; Farina, Antonella; Miraglia Del Giudice, Emanuele; Pascarella, Filomena; Licenziati, Maria Rosaria; Improda, Nicola; Piluso, Giulio; Torella, Annalaura; Del Vecchio Blanco, Francesca; Cirillo, Mario; Nigro, Vincenzo; Grandone, Anna