Publications by authors named "Mario Solis"

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A Novel Missense Variant in the NKX2-1 Prevents Transcriptional Rescue by TAZ.
Beatriz Villafuerte, Carlos Carrasco-López, Amanda Herranz, Lucía Garzón, Rogelio Simón, Mario Solis

Thyroid· July 2024

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Utility of CYP2D6 copy number variants as prognostic biomarker in localized anal squamous cell carcinoma.
Lucía Trilla-Fuertes, Angelo Gámez-Pozo, Miguel Nogué, Isabel Busquier, Fernando Arias

Cancer· August 2023

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Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel Gene Mutation.
Eva Fernández-Gutiérrez, Pedro Fernández-Pérez, Ana Boto-De-Los-Bueis, Laura García-Fernández, Patricia Rodríguez-Solana

Int J Mol Sci· December 2022

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Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.
Marta Pacio-Miguez, Manuel Parrón-Pajares, Christopher T Gordon, Fernando Santos-Simarro, Carmen Rodríguez Jiménez

Am J Med Genet A· September 2022

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Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.
Fernando Santos-Simarro, Marta Pacio, Anna María Cueto-González, Elena Mansilla, María Irene Valenzuela-Palafoll, Mario Solis

Eur J Med Genet· November 2021

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High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.
Lucía Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona, Francisca Díaz-González, Silvia Modamio-Høybjør

Eur J Endocrinol· October 2021

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Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.
Sofía M Siccha, Anna María Cueto, Manuel Parrón-Pajares, Gaspar González-Morán, Marta Pacio-Miguez

Am J Med Genet A· March 2021

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Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.
Marta Pacio Miguez, Fernando Santos-Simarro, Sixto García-Miñaúr, Ramón Velázquez Fragua, Ángela Del Pozo

Am J Med Genet A· October 2020

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Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
Lucía Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona, Arrate Pereda, Manuel Parrón-Pajares

J Clin Endocrinol Metab· August 2020

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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Jair Tenorio, Pablo Alarcón, Pedro Arias, Irene Dapía, Sixto García-Miñaur

Eur J Hum Genet· April 2020

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MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.
Jair Tenorio, Pablo Alarcón, Pedro Arias, Feliciano J Ramos, Jaume Campistol

Clin Genet· June 2019

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Experimental feasibility of multistatic holography for breast microwave radar image reconstruction.
Daniel Flores-Tapia, Diego Rodriguez, Mario Solis, Nikita Kopotun, Saeed Latif

Med Phys· August 2016

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Pharmacological evaluation of a β-hydroxyphosphonate analogue of l-carnitine in obese Zucker fa/fa rats.
Jorge Reyes-Esparza, Brissa Mendoza-Rivera, Ricardo De la Cruz-Cordero, Jorge L Rosado, Miguel Á Duarte-Vázquez, Mario G Solis

Basic Clin Pharmacol Toxicol· April 2013

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