Publications by authors named "Raquel Rodriguez Lopez"

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A new genotype of the gene causes retinitis pigmentosa, generating functional dyschromatopsia from early childhood.
Nuria Rosell-Saiz, Antonio Sierra-Rivera, Jordi Tortosa-Carreres, Clara Monferrer-Adsuara, Javier Montero-Hernández

Ophthalmic Genet· December 2025

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Complete phenotyping of the pathogenic genotype of the NTRK1 gene in early childhood.
Antonio Sierra-Rivera, Altea Esteve-Martínez, Virginia Ballesteros-Cogollos, Xavi Aparisi-Domingo, Elena Montesinos-Sanchís

Lab Med· December 2025

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Insights into the pathophysiology and response of persistent spinal pain syndrome type 2 to spinal cord stimulation: a human genome-wide association study.
Gustavo Fabregat-Cid, David L Cedeno, José De Andrés, Anushik Harutyunyan, Vicente Monsalve-Dolz

Reg Anesth Pain Med· October 2025

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Novel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report.
Patricia Tomás-Simó, Antonio Sierra-Rivera, Ana Checa-Ros, Raquel Rodríguez-López, Antonio Galán-Serrano

Nephrology (Carlton)· September 2025

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Pancreatic Malformation and Heterotaxy Syndrome Associated With 6q25.1 Haploinsufficiency.
Berta Sufrate-Vergara, Carla Martín Grau, Laia Pedrola Vidal, Purificación Marín-Reina, María Jesús Esteban Ríos

Pancreas· July 2025

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Diagnostic and Prognostic Value of Angiogenic Status in Hereditary Hemorrhagic Telangiectasia.
Sherlyne Jaimes-Díaz, Gustavo Juan-Samper, Susana Torres-Martínez, Eva Escorihuela-Alares, Silvia Calabuig-Fariñas

Diagnostics (Basel)· December 2024

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Diversity of oncopharmacogenetic profile within Spanish population.
Irene Ferrer Bolufer, Ximo Galiana Vallés, Silvia Izquierdo Álvarez, Ana Serrano Mira, Carola Guzmán Luján

Pharmacogenet Genomics· July 2024

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Retrospective variant reclassification and resequencing in hypertrophic cardiomyopathy: a reference unit centre experience.
Elías Cuesta-Llavona, Rebeca Lorca, María Salgado, Claudia García-Lago, Julián Rodríguez-Reguero

Eur J Prev Cardiol· April 2024

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Effect of Conventional Spinal Cord Stimulation on Serum Protein Profile in Patients With Persistent Spinal Pain Syndrome: A Case-Control Study.
Gustavo Fabregat-Cid, David L Cedeño, Anushik Harutyunyan, Raquel Rodríguez-López, Vicente Monsalve-Dolz

Neuromodulation· October 2023

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Twelve-year follow up of a case of autosomal recessive bestrophinopathy with transient resolution of retinal edema in one eye.
Lidia Remolí Sargues, Clara Monferrer Adsuara, Raquel Rodríguez López, Roberto Gallego Pinazo, Javier Montero Hernández

Eur J Ophthalmol· May 2023

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Prenatal genetic diagnosis of monogenic diseases.
Carmen Prior-de Castro, Clara Gómez-González, Raquel Rodríguez-López, Hada C Macher,

Adv Lab Med· April 2023

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Dental Phenotype with Minor Ectodermal Symptoms Suggestive of Deficiency.
Victoria-Eugenia García-Martínez, Ximo Galiana-Vallés, Otilia Zomeño-Alcalá, Raquel Rodríguez-López, Carmen Llena

Children (Basel)· February 2023

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Homozygous Pro1066Arg Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous Family.
Raquel Rodríguez-López, Javier García-Planells, Marina Martínez-Matilla, Cristian Pérez-García, Amor García Banacloy

Life (Basel)· July 2022

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Reviewed and updated Algorithm for Genetic Characterization of Syndromic Obesity Phenotypes.
Raquel Rodríguez-López, Fátima Gimeno-Ferrer, David Albuquerque do Santos, Irene Ferrer-Bolufer, Carola Guzmán Luján

Curr Genomics· July 2022

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Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization.
Raquel Rodríguez-López, Fátima Gimeno-Ferrer, Elena Montesinos, Irene Ferrer-Bolufer, Carola Guzmán Luján

Genes (Basel)· July 2021

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Differences in Gene Expression of Endogenous Opioid Peptide Precursor, Cannabinoid 1 and 2 Receptors and Interleukin Beta in Peripheral Blood Mononuclear Cells of Patients With Refractory Failed Back Surgery Syndrome Treated With Spinal Cord Stimulation: Markers of Therapeutic Outcomes?
Jose De Andrés, Francisco Navarrete-Rueda, Gustavo Fabregat, Maria Salud García-Gutiérrez, Vincente Monsalve-Dolz, Raquel Rodriguez-Lopez

Neuromodulation· January 2021

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Genetic screening for MC4R gene identifies three novel mutations associated with severe familiar obesity in a cohort of Spanish individuals.
Fátima Gimeno-Ferrer, David Albuquerque, Amor García Banacloy, Carola Guzmán Luján, Clara Vidal Garcia

Gene· July 2019

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Novel PTEN mutation in Cowden syndrome: case report with late diagnosis and non-malignant course.
Alvaro Martínez-Doménech, Marta García-Legaz Martínez, Jorge Magdaleno-Tapial, Gemma Pérez-Pastor, Raquel Rodríguez-López

Dermatol Online J· May 2019

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The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability.
Fátima Gimeno-Ferrer, David Albuquerque, Carola Guzmán Luján, Goitzane Marcaida Benito, Cristina Torreira Banzas

J Hum Genet· March 2019

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Congenital plasminogen deficiency with long standing pseudomembranous conjunctival and genital lesions.
Jorge Magdaleno-Tapial, Pablo Hernández-Bel, Cristian Valenzuela-Oñate, Fátima Gimeno-Ferrer, Raquel Rodríguez-López

JAAD Case Rep· January 2019

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Influence of and genetic variability on personality dimensions in anorexia and bulimia nervosa.
Carmen Gamero-Villarroel, Luz M González, Raquel Rodríguez-López, David Albuquerque, Juan A Carrillo

Brain Behav· September 2017

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Previously Undescribed Family Mutation in the JAG1 Gene as a Cause for Alagille Syndrome.
Gemma Muñoz-Aguilar, Ignacio Domingo-Triadó, María Maravall-Llagaria, José J Alcón-Sáez, Raquel Rodríguez-López

J Pediatr Gastroenterol Nutr· May 2017

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Polymorphisms in the SNRPN gene are associated with obesity susceptibility in a Spanish population.
David Albuquerque, Licínio Manco, Luz M González, Guillermo Gervasini, Goitzane Marcaida Benito

J Gene Med· May 2017

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The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.
Katalin Farkas, Barbara Kocsis Deák, Laura Cubells Sánchez, Ana Mercedes Victoria Martínez, Juan José Vilata Corell

BMC Genet· February 2016

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Current review of genetics of human obesity: from molecular mechanisms to an evolutionary perspective.
David Albuquerque, Eric Stice, Raquel Rodríguez-López, Licíno Manco, Clévio Nóbrega

Mol Genet Genomics· August 2015

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