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E

Elisabeth Castellanos

Germans Trias i Pujol Research Institute
H指数:17
被引数:955

个人简介

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教育背景

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工作经历

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荣誉奖项

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NF2 lacking exon 11 induced by antisense gene therapy is able to partially recover merlin deficiency in NF2-SWN iPSC-derived spheroid model

NF2缺乏外显子11的反义基因治疗能够部分恢复NF2-SWN iPSC衍生球状体模型中的merlin缺陷

Molecular Therapy Nucleic Acids
IF6.1
2026-08-030
OA
Gemma Casals-Sendra; Ignasi Jarne-Sanz; Núria Catasús; Irene Boluda-Luis; Ariadna Quer; Emilio Amilibia; Scott R. Plotkin; Conxi Lázaro; Eduard Serra; Ignacio Blanco; Elisabeth Castellanos
From clinical suspicion to molecular detection of low-level mosaicism in NF2-related schwannomatosis via ultra-sensitive duplex sequencing

从临床怀疑到通过超灵敏双路测序检测NF2相关神经纤维瘤病的低水平嵌合现象

Molecular Medicine
IF6.4
2026-07-100
OA
Monika Horbacz; Justyna Prokopiuk; Elisabeth Castellanos; Hilde Brems; Ignacio Blanco; Eric Legius; Seppe Van der Auweraer; Shehab Moukbel Ali Aldawla; Atena Yasari; Monika Heinzl; Piotr Madanecki; Natalia Filipowicz; Aleksandra Gintowt-Chakour; Beata S. Lipska-Ziętkiewicz; Jan P. Dumanski; Irene Tiemann-Boege; Arkadiusz Piotrowski; Magdalena Koczkowska
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple cafe-au-lait macules

LZTR1中功能缺失变体的杂合性与孤立的多个cafe-au-lait斑疹相关

GENETICS IN MEDICINE
IF6.2
2024-11-010
PRE
Mastromoro, Gioia; Santoro, Claudia; Motta, Marialetizia; Sorrentino, Ugo; Daniele, Paola; Peduto, Cristina; Petrizzelli, Francesco; Tripodi, Martina; Pinna, Valentina; Zanobio, Mariateresa; Rotundo, Giovannina; Bellacchio, Emanuele; Lepri, Francesca; Farina, Antonella; D'Asdia, Maria Cecilia; Piceci-Sparascio, Francesca; Biagini, Tommaso; Petracca, Antonio; Castori, Marco; Melis, Daniela; Accadia, Maria; Traficante, Giovanna; Tarani, Luigi; Fontana, Paolo; Sirchia, Fabio; Paparella, Roberto; Curro, Aurora; Benedicenti, Francesco; Scala, Iris; Dentici, Maria Lisa; Leoni, Chiara; Trevisan, Valentina; Cecconi, Antonella; Giustini, Sandra; Pizzuti, Antonio; Salviati, Leonardo; Novelli, Antonio; Zampino, Giuseppe; Zenker, Martin; Genuardi, Maurizio; Digilio, Maria Cristina; Papi, Laura; Perrotta, Silverio; Nigro, Vincenzo; Castellanos, Elisabeth; Mazza, Tommaso; Trevisson, Eva; Tartaglia, Marco; Piluso, Giulio; De Luca, Alessandro
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
JOURNAL OF MEDICAL GENETICS
IF3.7
2022-02-0410
PRE
Garcia, Belen; Catasus, Nuria; Ros, Andrea; Rosas, Inma; Negro, Alejandro; Guerrero-Murillo, Mercedes; Maria Valero, Ana; Duat-Rodriguez, Anna; Luis Becerra, Juan; Bonache, Sandra; Lazaro Garcia, Conxi; Comas, Carmina; Bielsa, Isabel; Serra, Eduard; Hernandez-Chico, Concepcion; Martin, Yolanda; Castellanos, Elisabeth; Blanco, Ignacio
Modeling iPSC-derived human neurofibroma-like tumors in mice uncovers the heterogeneity of Schwann cells within plexiform neurofibromas
CELL REPORTS
IF6.9
2022-02-0121
OA
Mazuelas, Helena; Magallon-Lorenz, Miriam; Fernandez-Rodriguez, Juana; Uriarte-Arrazola, Itziar; Richaud-Patin, Yvonne; Terribas, Ernest; Villanueva, Alberto; Castellanos, Elisabeth; Blanco, Ignacio; Raya, Angel; Chojnacki, Jakub; Heyn, Holger; Romagosa, Cleofe; Lazaro, Conxi; Gel, Bernat; Carrio, Meritxell; Serra, Eduard
Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experience
HUMAN MUTATION
IF3.7
2021-11-153
OAAI
Piotrowski, Arkadiusz; Koczkowska, Magdalena; Poplawski, Andrzej B.; Bartoszewski, Rafal; Kroliczewski, Jaroslaw; Mieczkowska, Alina; Gomes, Alicia; Crowley, Michael R.; Crossman, David K.; Chen, Yunjia; Lao, Ping; Serra, Eduard; Llach, Meritxell C.; Castellanos, Elisabeth; Messiaen, Ludwine M.
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component

重新审视英国NF2的遗传严重程度评分: 增加功能性遗传成分的建议

JOURNAL OF MEDICAL GENETICS
IF3.7
2021-08-048
OA
Catasus, Nuria; Garcia, Belen; Galvan-Femenia, Ivan; Plana, Adria; Negro, Alejandro; Rosas, Inma; Ros, Andrea; Amilibia, Emilio; Luis Becerra, Juan; Hostalot, Cristina; Rocaribas, Francesc; Bielsa, Isabel; Lazaro Garcia, Conxi; de Cid, Rafael; Serra, Eduard; Blanco, Ignacio; Castellanos, Elisabeth
Analysis of intratumor heterogeneity in Neurofibromatosis type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findings

神经纤维瘤病1型丛状神经纤维瘤和具有非典型特征的神经纤维瘤的瘤内异质性分析: 相关的组织学和基因组发现

HUMAN MUTATION
IF3.7
2018-05-2537
OAAI
Carrio, Meritxell; Gel, Bernat; Terribas, Ernest; Carolina Zucchiatti, Adriana; Moline, Teresa; Rosas, Inma; Teule, Alex; Ramon y Cajal, Santiago; Carlos Lopez-Gutierrez, Juan; Blanco, Ignacio; Castellanos, Elisabeth; Lazaro, Conxi; Stemmer-Rachamimov, Anat; Romagosa, Cleofe; Serra, Eduard

研究方向

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I
Ignacio Blanco
H 指数:63论文数:412被引数:2.3万
C
Conxi Lázaro
H 指数:69论文数:472被引数:1.8万
B
Bernat Gel
H 指数:23论文数:93被引数:3,772
I
Inma Rosas
H 指数:10论文数:24被引数:335
E
Eduard Serra
H 指数:30论文数:172被引数:5,917
M
Meritxell Carrió
H 指数:14论文数:59被引数:991
E
Eduard Serra
H 指数:0论文数:2被引数:9
H
Helena Mazuelas
H 指数:7论文数:36被引数:176
F
Francesc Roca-Ribas
H 指数:9论文数:16被引数:186
E
Emilio Amilibia
H 指数:8论文数:21被引数:173