Publications by authors named "Isabel Llano-Rivas"

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Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patients.
Caroline E Nunes-Xavier, Mercè Pallarès-Sastre, Ana Rodríguez-Ramos, Sonia Bañuelos, Irune Cortajarena, Isabel Llano-Rivas

PLoS Genet· October 2025

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Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?
Africa Manero-Azua, Arrate Pereda, Isabel Llano-Rivas, Intza Garin, Guiomar Perez de Nanclares

Front Genet· October 2023

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Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.
Piedad Alba-Pavón, Itziar Astigarraga, Lide Alaña, Isabel Llano-Rivas, Blanca Gener

Transl Pediatr· September 2023

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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Elena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, Saoud Tahsin Swafiri, Rosario Lopez-Rodriguez, Isabel Llano-Rivas

J Med Genet· July 2023

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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Sayaka Kayumi, Luis A Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E Sheppard, Isabel Llano-Rivas

Genet Med· November 2022

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Novel APOB mutation in familial hypobetalipoproteinemia.
M Domenech, Isabel Llano-Rivas, Vicente Arroyo, Emilio Ortega

J Clin Lipidol· April 2022

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Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Andrea Domingo-Gallego, Marc Pybus, Gemma Bullich, Mónica Furlano, Laia Ejarque-Vila, Isabel Llano-Rivas

Nephrol Dial Transplant· March 2022

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RNA Analysis and Clinical Characterization of a Novel Splice Variant in the Gene Causing Familial Sotos Syndrome.
Olatz Villate, Hiart Maortua, María-Isabel Tejada, Isabel Llano-Rivas

Front Pediatr· February 2022

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Novel Variant in in a Familial Case with Silver-Russell Syndrome Suspicion.
Yerai Vado, Arrate Pereda, Isabel Llano-Rivas, Nerea Gorria-Redondo, Ignacio Díez

Genes (Basel)· December 2020

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Prenatal and foetal autopsy findings in glutaric aciduria type II.
Adriano Martinez-Aracil, Rebeca Ruiz-Onandi, Alvaro Perez-Rodriguez, Amaia Sagasta, Isabel Llano-Rivas

Birth Defects Res· November 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, Isabel Llano-Rivas

J Clin Endocrinol Metab· August 2020

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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Vincenzo Salpietro, Nancy T Malintan, Isabel Llano-Rivas, Christine G Spaeth, Stephanie Efthymiou

Am J Hum Genet· April 2019

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Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report.
Yerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, Nerea Gorria, Arrate Pereda

BMC Med Genomics· December 2018

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Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.
Juan Pablo Ochoa, María Sabater-Molina, José Manuel García-Pinilla, Jens Mogensen, Alejandra Restrepo-Córdoba, Isabel Llano-Rivas

J Am Coll Cardiol· November 2018

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A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.
Gemma Bullich, Andrea Domingo-Gallego, Iván Vargas, Patricia Ruiz, Laura Lorente-Grandoso, Isabel Llano-Rivas

Kidney Int· August 2018

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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Isabel Llano-Rivas

Orphanet J Rare Dis· March 2016

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Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.
Yasuko Hirata, Hilde Brems, Mayu Suzuki, Mitsuhiro Kanamori, Masahiro Okada, Isabel Llano-Rivas

J Biol Chem· February 2016

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Isabel Llano-Rivas

Hum Mutat· November 2015

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Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date.
María Luisa Martínez-Fernández, Joaquin Fernández-Toral, Isabel Llano-Rivas, Eva Bermejo-Sánchez, Alexandra MacDonald

Am J Med Genet A· September 2015

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Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.
Alessandra Pangrazio, Alessandro Puddu, Manuela Oppo, Maria Valentini, Luca Zammataro, Isabel Llano-Rivas

Bone· February 2014

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A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome.
Lorena Miñones-Suárez, Alberto Mas-Vidal, Joaquin Fernandez-Toral, Isabel Llano-Rivas, Manuel González-García

Pediatr Dermatol· September 2013

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In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.
Elena Parrini, Isabel Llano Rivas, Joaquin Fernandez Toral, Daniela Pucatti, Sabrina Giglio

Am J Med Genet A· May 2011

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[CHARGE syndrome].
Carlos Javier Lobete Prieto, Isabel Llano Rivas, Joaquín Fernández Toral, Pilar Madero Barrajón

Arch Argent Pediatr· February 2010

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