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Eduardo F. Tizzano

Lozano Blesa University Clinical Hospital

41H指数
259论文数
9.3K被引数
收录论文 89
发表时间
Protocol for a prospective observational cohort study to assess clinical applications of expanded noninvasive prenatal testing (NIPT) in pregnancies with placental dysfunction前瞻性观察队列研究方案:评估在胎盘功能障碍妊娠中扩展型无创产前检测(NIPT)的临床应用
err2026-04-09
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PREAI
errVillalba, Ana; Sanchez-Duran, M. Angeles; Orellana, Carmen; Sobreviela, Mercedes; Gil, Maria M.; Lobo, Rosa Maria; Gomez-Manjon, Irene; Cea, Cristina; Pedrola Vidal, Laia; Menao, Sebastian; Martin-Alonso, Raquel; Quesada, Gonzalo E.; Albuixech, Eva; Rosello Piera, Monica; Valle, Eva; Tizzano, Eduardo; Galindo, Alberto; Mendoza, Manel; Marcos, Beatriz; Cervera, Jose Vicente; Santacruz, Belen; Piazzolla, Daniela; Page-Christiaens, Lieve; Lerma, Diego; Quiroga, Ramiro; Fernandez, Francisco Javier; Herraiz, Ignacio
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Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture作者更正: 人纤毛蛋白RSG1将CPLANE复合物与过渡区结构联系起来
err2026-02-02
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errOAAI
errNeftalí Vazquez; Chanjae Lee; Irene Valenzuela; Thao P. Phan; Camille Derderian; Marcelo Chávez; Nancie A. Mooney; Janos Demeter; Mohammad Ovais Aziz-Zanjani; Ivon Cusco; Marta Codina; Núria Martínez-Gil; Diana Valverde; Carlos Solarat; Ange-Line Bruel; Cristel Thauvin-Robinet; Elisabeth Steichen; Isabel Filges; Pascal Joset; Julie De Geyter; Krishna Vaidyanathan; Tynan P. Gardner; Michinori Toriyama; Edward M. Marcotte; Kevin Drew; Elle C. Roberson; Peter K. Jackson; Jeremy F. Reiter; Eduardo F. Tizzano; John B. Wallingford
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Response to Saleem et al.
err2026-01-19
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PREAI
errIrene Valenzuela; Marta Codina-Solà; Eduardo F. Tizzano
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Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome对11名携带RNU4-2致病性变异个体的深度表型分析揭示了一种临床可识别的综合征
err2025-12-06
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errOAAI
errIrene Valenzuela; Marta Codina-Solà; Elida Vazquez; Anna Cueto-González; Jordi Leno-Colorado; Amaia Lasa-Aranzasti; Laura Trujillano; Bárbara Masotto; Miriam Masas; Mar Escobar; Elena García-Arumí; Eduardo F. Tizzano
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Genetic counseling in pediatrics: Clinical implications and challenges in genomic medicine儿科遗传咨询:基因组医学的临床意义与挑战
err2025-12-01
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errOAAI
errChaparro, Diana Salinas; Cabello, Patricia Munoz; Serrano, Gema Escribano; Lopez, Maite Torres; Tizzano, Eduardo F.; Martinez-Monseny, Antonio F.; Santos-Simarro, Fernando
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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies研究蛋白酶体ATP酶亚基基因PSMC5在神经发育性蛋白酶体病理学中的神经元作用
err2025-11-26
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errOAAI
errSébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
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Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case SeriesPRKAR1B相关Marbach–Schaaf神经发育综合征表型和基因型谱的扩展:一项病例系列研究
err2025-10-29
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errOAAI
errSebastian Burkart; Tarik Guzeloglu; Ana R. Soares; Irene Valenzuela; Eduardo F. Tizzano; David Gómez-Andres; Laurent Pasquier; Marine Legendre; Camille Berges; Julien Thevenon; Marjolaine Gauthier; Caleb Heid; Elly Ranum; Joseph Shen; Michelle Frees; Michael W. Schmidtke; Caro Pilar; Christian P. Schaaf
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Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome发现一种DNA甲基化表观签名作为胎儿酒精综合征的分子生物标志物
err2025-09-18
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errOAAI
errLiselot van der Laan; Raissa Relator; Irene Valenzuela; Adri N. Mul; Mariëlle Alders; Michael A. Levy; Jennifer Kerkhof; Jessica Rzasa; Anna M. Cueto-González; Amaia Lasa-Aranzasti; Cristina Cea-Arestin; Marcel M.A.M. Mannens; Mieke M. van Haelst; Eduardo F. Tizzano; Bekim Sadikovic; Peter Henneman
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Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephalySNW1剪接体基因的突变导致伴有小头畸形的神经发育障碍
err2025-09-16
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errOAAI
errJi, Lei; Yan, Jin; Losurdo, Nicole A.; Wang, Hua; Liu, Liangjie; Li, Keyi; Liu, Zhen; Guo, Zhenming; Xu, Jing; Bibo, Adriana; Ren, Decheng; Yang, Ke; Luo, Yingying; Yang, Fengping; Wang, Gui; Xiang, Zhenglong; Wang, Yuan; Zhan, Huaizhe; Pan, Hu; Hu, Juanli; Zhong, Jianmin; Abou Jamra, Rami; Zacher, Pia; Musante, Luciana; Faletra, Flavio; Costa, Paola; Zanus, Caterina; Couque, Nathalie; Ruaud, Lyse; Cueto-Gonzalez, Anna M.; Fernandez, Hector San Nicolas; Tizzano, Eduardo; Gil, Nuria Martinez; Liu, Xiaorong; Liao, Weiping; Farraj, Layal Abi; Huang, Alden Y.; Zhang, Liying; Murali, Aparna; Schmuel, Esther; Han, Christina S.; King, Kayla; Gu, Weiyue; Wang, Pengchao; Li, Kai; Link, Nichole; He, Guang; Bian, Shan; Biao, Xiao
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Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project西班牙脊髓性肌萎缩症的真实世界数据:来自CuidAME项目超过500名个体的见解
err2025-07-28
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PREAI
errCristina Puig-Ram; Sonia Segovia; Rocio Garcia-Uzquiano; Nancy Carolina Ñungo Garzón; Karolina Aragon-Gawinska; Mar García Romero; Jesica María Expósito-Escudero; Laura Carrera-García; Mercedes López-Lobato; Carmen Paradas; Laura González Mera; Mireia Álvarez Molinero; David Gómez Andrés; Esther Toro; Joaquín Alejandro Fernández Ramos; Maria Antonia Grimalt; Laura Toledo Bravo de Laguna; Desire González Barrios; Eduardo F Tizzano; Maria Grazia Cattinari; Julita Medina; Rocío Calvo Medina; Francina Munell; Javier Sotoca; Eduardo Martínez-Salcedo; Antonio Moreno Escribano; Mónica Povedano Panadés; Miguel A. Fernández-García; Inmaculada Pitarch-Castellano; Juan F. Vázquez-Costa; Daniel Natera-de Benito; Andres Nascimento
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Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy长读长测序鉴定脊髓性肌萎缩症中SMN基因转换的拷贝特异性标记
err2025-03-21
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errZwartkruis, M. M.; Elferink, M. G.; Gommers, D.; Signoria, I.; Blasco-Perez, L.; Costa-Roger, M.; van der Sel, J.; Renkens, I. J.; Green, J. W.; Kortooms, J. V.; Vermeulen, C.; Straver, R.; van Deutekom, H. W. M.; Veldink, J. H.; Asselman, F.; Tizzano, E. F.; Wadman, R. I.; van der Pol, W. L.; van Haaften, G. W.; Groen, E. J. N.
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Case Report: Androgenetic/biparental chimera with two biparental cell lines leading to placental mesenchymal dysplasia: a possible novel mechanism of formation病例报告: 雄激素/双亲嵌合体与两种双亲细胞系导致胎盘间充质发育异常: 一种可能的新机制
err2025-03-01
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PREAI
errXuncla, Mar; Sanchez-Duran, Maria angeles; Rey, Natalia; Serrano, Maria; Martinez, Pedro Antonio; Trobo, Lourdes; Soriano, Jessica Camacho; Plaja, Alberto; Castells-Sarret, Neus; Rigola, Maria angels; Garcia-Arumi, Elena; Tizzano, Eduardo Fidel
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Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome
err2024-12-01
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PREAI
errValenzuela, Irene; Codina-Sola, Marta; Vazquez, Elida; Cueto-Gonzalez, Anna; Leno-Colorado, Jordi; Lasa-Aranzasti, Amaia; Trujillano, Laura; Masotto, Barbara; Masas, Miriam; Escobar, Mar; Garcia-Arumi, Elena; Tizzano, Eduardo F.
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Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid
err2024-10-01
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PREAI
errHaghshenas, Sadegheh; Putoux, Audrey; Reilly, Jack; Levy, Michael A.; Relator, Raissa; Ghosh, Sourav; Kerkhof, Jennifer; McConkey, Haley; Edery, Patrick; Lesca, Gaetan; Besson, Alicia; Coubes, Christine; Willems, Marjolaine; Ruiz-Pallares, Nathalie; Barat-Houari, Mouna; Tizzano, Eduardo F.; Valenzuela, Irene; Sabbagh, Quentin; Clayton-Smith, Jill; Jackson, Adam; Sullivan, James; Bromley, Rebecca; Banka, Siddharth; Genevieve, David; Sadikovic, Bekim
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Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy
err2024-09-28
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errOAAI
errBrown, Stephen M.; Ajjarapu, Aparna S.; Ramachandra, Divya; Blasco-Perez, Laura; Costa-Roger, Mar; Tizzano, Eduardo F.; Sumner, Charlotte J.; Mathews, Katherine D.
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Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy
err2024-08-01
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errCosta-Roger, Mar; Blasco-Perez, Laura; Gerin, Lorene; Codina-Sola, Marta; Leno-Colorado, Jordi; De la Banda, Marta Gomez-Garcia; Garcia-Uzquiano, Rocio; Saugier-Veber, Pascale; Drunat, Severine; Quijano-Roy, Susana; Tizzano, Eduardo F.
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Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies
err2024-07-09
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errAntolin, Maria; Tarraso, Guillermo; Sanchez, Maria angeles; Plaja, Alberto; Martinez-Cruz, Desiree; Xuncla, Mar; Castells, Neus; Carreras, Elena; Tizzano, Eduardo F.; Garcia-Arumi, Elena
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Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome
err2024-07-02
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PREAI
errTotten, Vicken; Teixido-Tura, Gisela; Lopez-Grondona, Fermina; Fernandez-Alvarez, Paula; Lasa-Aranzasti, Amaia; Munoz-Cabello, Patricia; Kosaki, Rika; Tizzano, Eduardo F.; Dewals, Wendy; Borras, Emma; Canas, Elena Gonzalez; Almoguera, Berta; Loeys, Bart; Valenzuena, Irene
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