Works matching AU Arias, Pedro

Results: 194
    1

    Short-Term Therapeutic Effects of Ozone in the Management of Pain in Knee Osteoarthritis: A Meta-Analysis.

    Published in:
    2019
    By:
    • Arias‐Vázquez, Pedro Iván;
    • Tovilla‐Zárate, Carlos Alfonso;
    • Hernández‐Díaz, Yazmín;
    • González‐Castro, Thelma Beatriz;
    • Juárez‐Rojop, Isela Esther;
    • López‐Narváez, María Lilia;
    • Bermudez‐Ocaña, Deysi Yadira;
    • Barjau‐Madrígal, Hugo Adrián;
    • Legorreta‐Ramírez, Gabriela;
    • Arias-Vázquez, Pedro Iván;
    • Tovilla-Zárate, Carlos Alfonso;
    • Hernández-Díaz, Yazmín;
    • González-Castro, Thelma Beatriz;
    • Juárez-Rojop, Isela Esther;
    • López-Narváez, María Lilia;
    • Bermudez-Ocaña, Deysi Yadira;
    • Barjau-Madrígal, Hugo Adrián;
    • Legorreta-Ramírez, Gabriela
    Publication type:
    journal article
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    A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 8, p. 1, doi. 10.1002/ajmg.a.64074
    By:
    • Parra, Alejandro;
    • Cazalla, Mario;
    • Jimenez‐Estrada, Juan A.;
    • Silván, Cristina;
    • Miranda‐Alcaraz, Lucía;
    • Gallego‐Zazo, Natalia;
    • Mora‐Gómez, Mónica;
    • Rodríguez‐Canó, Manuel;
    • Arias, Pedro;
    • Rodríguez‐Antolín, Carlos;
    • Nevado, Julián;
    • Ruiz Pérez, Víctor Luis;
    • Tenorio‐Castano, Jair;
    • Lapunzina, Pablo
    Publication type:
    Article
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    Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.

    Published in:
    Clinical Genetics, 2025, v. 108, n. 2, p. 224, doi. 10.1111/cge.14761
    By:
    • Parra, Alejandro;
    • Jimenez‐Estrada, Juan A.;
    • Vásquez‐Amell, Valeria;
    • Cazalla, Mario;
    • Rodríguez‐Canó, Manuel;
    • Gallego‐Zazo, Natalia;
    • Miranda, Lucia;
    • Mora‐Gómez, Mónica;
    • Vallespín, Elena;
    • Mena, Rocío;
    • Fernández, Luis;
    • Silván, Cristina;
    • Arias, Pedro;
    • Dominguez‐Jiménez, Marta;
    • Guillén‐Navarro, Encarna;
    • Nevado, Julián;
    • Tenorio‐Castano, Jair;
    • Ruiz‐Pérez, Víctor L.;
    • Lapunzina, Pablo
    Publication type:
    Article
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    Phenotypic spectrum and tumor risk in Simpson‐Golabi‐Behmel syndrome: Case series and comprehensive literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63840
    By:
    • Nisbet, Alex F.;
    • Viswanathan, Aravind;
    • George, Andrew M.;
    • Arias, Pedro;
    • Klein, Steven D.;
    • Nevado, Julian;
    • Parra, Alejandro;
    • Pascual, Patricia;
    • Romeo, Dominic J.;
    • Tenorio‐Castaño, Jair;
    • Taylor, Jesse A.;
    • Zackai, Elaine H.;
    • Lapunzina, Pablo;
    • Kalish, Jennifer M.
    Publication type:
    Article
    20

    A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 100, doi. 10.1002/ajmg.a.62994
    By:
    • Álvarez, Luis Francisco González;
    • Tenorio‐Castaño, Jair;
    • Poletta, Fernando A.;
    • Santos‐Simarro, Fernando;
    • Arias, Pedro;
    • Gallego, Natalia;
    • Orioli, Iêda Maria;
    • Mundlos, Stefan;
    • Castilla, Eduardo E.;
    • Martínez‐Glez, Víctor;
    • Martínez‐Frías, María Luisa;
    • Ruiz‐Pérez, Víctor L.;
    • Nevado, Julián;
    • Lapunzina, Pablo
    Publication type:
    Article
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    Lack of effect of benralizumab on signs and symptoms of moderate‐to‐severe atopic dermatitis: Results from the phase 2 randomized, double‐blind, placebo‐controlled HILLIER trial.

    Published in:
    Journal of the European Academy of Dermatology & Venereology, 2023, v. 37, n. 10, p. e1211, doi. 10.1111/jdv.19195
    By:
    • Guttman‐Yassky, E.;
    • Bahadori, L.;
    • Brooks, L.;
    • Clark, K. L.;
    • Grindebacke, H.;
    • Ho, C. N.;
    • Katial, R.;
    • Pham, T.‐H.;
    • Walton, C.;
    • Datto, C. J.;
    • Guttman‐Yassky, Emma;
    • Arias, Pedro Jesús Gómez;
    • Alpizar, Ricardo;
    • Alpizar, Sady;
    • Asrenberger, Petr;
    • Azib, Selma;
    • Badia, Anais;
    • Beck, Lisa;
    • Bran, Eduardo Lopez;
    • Breneman, Debra
    Publication type:
    Article
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    Association Between Scalp Microbiota Imbalance, Disease Severity, and Systemic Inflammatory Markers in Alopecia Areata.

    Published in:
    Dermatology & Therapy, 2024, v. 14, n. 11, p. 2971, doi. 10.1007/s13555-024-01281-2
    By:
    • Gómez-Arias, Pedro J.;
    • Gay-Mimbrera, Jesús;
    • Rivera-Ruiz, Irene;
    • Aguilar-Luque, Macarena;
    • Juan-Cencerrado, Miguel;
    • Mochón-Jiménez, Carmen;
    • Gómez-García, Francisco;
    • Sánchez-González, Silvia;
    • Ortega-Hernández, Adriana;
    • Gómez-Garre, Dulcenombre;
    • Parra-Peralbo, Esmeralda;
    • Isla-Tejera, Beatriz;
    • Ruano, Juan
    Publication type:
    Article
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    Non‐immune hydrops fetalis is associated with bi‐allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 6, p. 713, doi. 10.1111/cge.14601
    By:
    • Tenorio‐Castano, Jair;
    • Mansilla Aparicio, Elena;
    • García Santiago, Fe Amalia;
    • Klotz, Cherise M.;
    • Regojo, Rita María;
    • Anguita, Estefanía;
    • Ryan, Erin;
    • Juusola, Jane;
    • Herrero, Beatriz;
    • Arias, Pedro;
    • Parra, Alejandro;
    • Pascual, Patricia;
    • Gallego, Natalia;
    • Cazalla, Mario;
    • Rodriguez‐González, Roberto;
    • Antolín, Eugenia;
    • Nevado, Julián;
    • Ruiz‐Perez, Víctor L.;
    • Lapunzina, Pablo
    Publication type:
    Article
    37

    Identification of copy‐number variants in patients with overgrowth disorders.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 5, p. 614, doi. 10.1111/cge.14596
    By:
    • Parra, Alejandro;
    • Tenorio‐Castano, Jair;
    • Nevado, Julián;
    • Cazalla, Mario;
    • Miranda‐Alcaraz, Lucía;
    • Gallego‐Zazo, Natalia;
    • Silván, Cristina;
    • Arias, Pedro;
    • Pozo‐Román, Jesús;
    • Ballesta‐Martínez, María Juliana;
    • Guillén‐Navarro, Encarna;
    • Arroyo, Ignacio;
    • Lotersztein, Vanesa;
    • Cosentino, Viviana;
    • González‐Meneses, Antonio;
    • Galán, Enrique;
    • Rosell, Jordi;
    • Ramos, Feliciano;
    • Plasencia, Antonio;
    • Rosa, Alberto L.
    Publication type:
    Article
    38

    Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 2, p. 140, doi. 10.1111/cge.14440
    By:
    • Parra, Alejandro;
    • Pascual, Patricia;
    • Cazalla, Mario;
    • Arias, Pedro;
    • Gallego‐Zazo, Natalia;
    • San‐Martín, Esteban A.;
    • Silván, Cristina;
    • Santos‐Simarro, Fernando;
    • Plasencia, Antonio;
    • Rosa, Alberto L.;
    • Blanquer, Aleixandre;
    • Garcı'a‐Alix, Alfredo;
    • Santana, Alfredo;
    • Delicado, Alicia;
    • Alonso, Almudena;
    • Rodriguez, Amaya;
    • Sanchis, Amparo;
    • Moreno, Ana;
    • Gar‐cía, Ana Patiño;
    • Vega, Ana
    Publication type:
    Article
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    Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 4, p. 405, doi. 10.1111/cge.14020
    By:
    • Tenorio‐Castaño, Jair Antonio;
    • Arias, Pedro;
    • Fernández‐Jaén, Alberto;
    • Lay‐Son, Guillermo;
    • Bueno‐Lozano, Gloria;
    • Bayat, Allan;
    • Faivre, Laurence;
    • Gallego, Natalia;
    • Ramos, Sergio;
    • Butler, Kameryn M.;
    • Morel, Chantal;
    • Hadjiyannakis, Stasia;
    • Lespinasse, James;
    • Tran‐Mau‐Them, Frederic;
    • Santos‐Simarro, Fernando;
    • Pinson, Lucile;
    • Martínez‐Monseny, Antonio Federico;
    • O'Callaghan Cord, María del Mar;
    • Álvarez, Sara;
    • Stolerman, Elliot S.
    Publication type:
    Article
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    MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 6, p. 726, doi. 10.1111/cge.13504
    By:
    • Tenorio, Jair;
    • Alarcón, Pablo;
    • Arias, Pedro;
    • Ramos, Feliciano J.;
    • Campistol, Jaume;
    • Climent, Salvador;
    • García‐Miñaur, Sixto;
    • Dapía, Irene;
    • Hernández, Alicia;
    • Nevado, Julián;
    • Solís, Mario;
    • Ruiz‐Pérez, Víctor L.;
    • Lapunzina, Pablo
    Publication type:
    Article
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