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

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

KCND1变异体与X连锁神经发育障碍的病因学关联,该障碍具有可变表达性

Kalm, Tassja; Schob, Claudia; Völler, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Klöckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E H; van Jaarsveld, Richard H; Oegema, Renske; van Gassen, Koen L I; Holwerda, Sjoerd J B; Barakat, Tahsin Stefan; Bouman, Arjan; van Slegtenhorst, Marjon; Álvarez, Sara; Fernández-Jaén, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylène; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K; Orenstein, Naama; Bernard, Geneviève; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortüm, Fanny; Kubisch, Christian; Bähring, Robert; Kindler, Stefan

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

SNF8基因的双等位基因变异会导致一系列疾病,从严重的脑发育和癫痫性脑病到综合征性视神经萎缩。

Brugger, Melanie; Lauri, Antonella; Zhen, Yan; Gramegna, Laura L; Zott, Benedikt; Sekulić, Nikolina; Fasano, Giulia; Kopajtich, Robert; Cordeddu, Viviana; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Paradisi, Graziamaria; Zanni, Ginevra; Vasco, Gessica; Carrozzo, Rosalba; Palombo, Flavia; Tonon, Caterina; Lodi, Raffaele; La Morgia, Chiara; Arelin, Maria; Blechschmidt, Cristiane; Finck, Tom; Sørensen, Vigdis; Kreiser, Kornelia; Strobl-Wildemann, Gertrud; Daum, Hagit; Michaelson-Cohen, Rachel; Ziccardi, Lucia; Zampino, Giuseppe; Prokisch, Holger; Abou Jamra, Rami; Fiorini, Claudio; Arzberger, Thomas; Winkelmann, Juliane; Caporali, Leonardo; Carelli, Valerio; Stenmark, Harald; Tartaglia, Marco; Wagner, Matias

Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder

生殖系双等位基因SH2B3/LNK改变易导致新生儿幼年型骨髓单核细胞白血病样疾病

Arfeuille, Chloé; Vial, Yoann; Cadenet, Margaux; Caye-Eude, Aurélie; Fenneteau, Odile; Neven, Quentin; Bonnard, Adeline A; Pizzi, Simone; Carpentieri, Giovanna; Capri, Yline; Girardi, Katia; Pedace, Lucia; Macchiaiolo, Marina; Boudhar, Kamel; Khaled, Monia Ben; Chahla, Wadih Abou; Lutun, Anne; Fahd, Mony; Drunat, Séverine; Flex, Elisabetta; Dalle, Jean-Hugues; Strullu, Marion; Locatelli, Franco; Tartaglia, Marco; Cavé, Hélène

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

BCL11B-Related Dystonia: Further Evidence of an Emerging Cause of Childhood-Onset Generalized Dystonia

BCL11B相关肌张力障碍:儿童期发病全身性肌张力障碍新病因的进一步证据

Garone, Giacomo; Capuano, Alessandro; Amodio, Donato; Nicita, Francesco; Travaglini, Lorena; Graziola, Federica; De Benedictis, Alessandro; Frascarelli, Flaminia; Parisi, Pasquale; Pizzi, Simone; Tartaglia, Marco; Marras, Carlo Efisio; Niceta, Marcello

Identification of a robust DNA methylation signature for Fanconi anemia

鉴定出范可尼贫血症的可靠DNA甲基化特征

Pagliara, Daria; Ciolfi, Andrea; Pedace, Lucia; Haghshenas, Sadegheh; Ferilli, Marco; Levy, Michael A; Miele, Evelina; Nardini, Claudia; Cappelletti, Camilla; Relator, Raissa; Pitisci, Angela; De Vito, Rita; Pizzi, Simone; Kerkhof, Jennifer; McConkey, Haley; Nazio, Francesca; Kant, Sarina G; Di Donato, Maddalena; Agolini, Emanuele; Matraxia, Marta; Pasini, Barbara; Pelle, Alessandra; Galluccio, Tiziana; Novelli, Antonio; Barakat, Tahsin Stefan; Andreani, Marco; Rossi, Francesca; Mecucci, Cristina; Savoia, Anna; Sadikovic, Bekim; Locatelli, Franco; Tartaglia, Marco

Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation

病例报告:一名患有表皮痣和横纹肌肉瘤的患者出现合子后HRAS基因连续突变,且携带突变等位基因的父系11号染色体获得,这提示HRAS基因参与了致癌转化的多重打击机制。

Zuntini, Roberta; Cattani, Chiara; Pedace, Lucia; Miele, Evelina; Caraffi, Stefano Giuseppe; Gardini, Stefano; Ficarelli, Elena; Pizzi, Simone; Radio, Francesca Clementina; Barone, Angelica; Piana, Simonetta; Bertolini, Patrizia; Corradi, Domenico; Marinelli, Maria; Longo, Caterina; Motolese, Alberico; Zuffardi, Orsetta; Tartaglia, Marco; Garavelli, Livia

Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures

病例报告:FOXP1相关智力障碍综合征和运动过度症的表型扩展及其在与癫痫发作鉴别诊断中的作用

Cesaroni, Carlo Alberto; Pollazzon, Marzia; Mancini, Cecilia; Rizzi, Susanna; Cappelletti, Camilla; Pizzi, Simone; Frattini, Daniele; Spagnoli, Carlotta; Caraffi, Stefano Giuseppe; Zuntini, Roberta; Trimarchi, Gabriele; Niceta, Marcello; Radio, Francesca Clementina; Tartaglia, Marco; Garavelli, Livia; Fusco, Carlo

Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly

病例报告:一名患有出生后小头畸形综合征的患者,其MED23基因中存在致病变异的新型复合杂合性

Salzano, Emanuela; Niceta, Marcello; Pizzi, Simone; Radio, Francesca Clementina; Busè, Martina; Mercadante, Francesca; Barresi, Sabina; Ferrara, Arturo; Mancini, Cecilia; Tartaglia, Marco; Piccione, Maria

Maternal hemodynamics and computerized cardiotocography during labor with epidural analgesia

硬膜外镇痛分娩期间的母体血流动力学和计算机化胎心监护

Giannubilo, Stefano Raffaele; Amici, Mirco; Pizzi, Simone; Simonini, Alessandro; Ciavattini, Andrea