Publications by authors named "Isabel Lorda-Sanchez"

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Adult-Onset Ataxia and Tremor as a Manifestation of Undiagnosed Phenylketonuria.
Cristina Garcia-Campos, Cici Feliz Feliz, Javier Del Val Fernández, Isabel Lorda Sánchez, Pedro J Garcia-Ruiz

Mov Disord Clin Pract· July 2025

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SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.
José M Moreno-Cabrera, Lidia Feliubadaló, Marta Pineda, Patricia Prada-Dacasa, Mireia Ramos-Muntada

Database (Oxford)· July 2024

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The enduring enigma of sporadic chorea: A single center case series.
Pedro J Garcia Ruiz, Lola Diaz Feliz, Cici E Feliz, Isabel Lorda Sanchez, Almudena Avila Fernandez

Tremor Other Hyperkinet Mov (N Y)· 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 Lorda-Sanchez

J Med Genet· July 2023

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Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.
Francisco Martínez-Granero, Elena Martínez-Cayuelas, Cristina Rodilla, Gonzalo Núñez-Moreno, Marta Rodríguez de Alba, Isabel Lorda-Sanchez

Clin Genet· April 2023

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Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Irene Perea-Romero, Carlos Solarat, Fiona Blanco-Kelly, Iker Sanchez-Navarro, Brais Bea-Mascato, Isabel Lorda-Sanchez

NPJ Genom Med· July 2022

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Generalized dystonia without Parkinsonism in an carrier.
Lola Díaz-Feliz, Cici Feliz-Feliz, Javier Del Val, Almudena Ávila-Fernández, Isabel Lorda-Sanchez

Clin Park Relat Disord· July 2022

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Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Inmaculada Martin-Merida, Fiona Blanco-Kelly, Saoud Swafiri, Isabel Lorda-Sanchez

Invest Ophthalmol Vis Sci· February 2022

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Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
Carolina Sanchez-Jimeno, Fiona Blanco-Kelly, Fermina López-Grondona, Rebeca Losada-Del Pozo, Beatriz Moreno, Isabel Lorda-Sanchez

Genes (Basel)· August 2021

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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Irene Perea-Romero, Gema Gordo, Ionut F Iancu, Marta Del Pozo-Valero, Berta Almoguera, Isabel Lorda-Sanchez

Sci Rep· May 2021

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Schuurs-Hoeijmakers Syndrome ( Neurodevelopmental Disorder): Seven Novel Patients and a Review.
Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Isabel Lorda-Sanchez

Genes (Basel)· May 2021

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Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.
Francisco Martinez-Granero, Fiona Blanco-Kelly, Carolina Sanchez-Jimeno, Almudena Avila-Fernandez, Ana Arteche, Isabel Lorda-Sanchez

NPJ Genom Med· March 2021

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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Irene Perea-Romero, Gema Gordo, Ionut F Iancu, Marta Del Pozo-Valero, Berta Almoguera, Isabel Lorda-Sanchez

Sci Rep· January 2021

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Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.
Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Fiona Blanco-Kelly, Jana Aguirre-Lamban, Inmaculada Martin-Merida, Isabel Lorda-Sanchez

Am J Ophthalmol· November 2020

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Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
Inmaculada Martin-Merida, Almudena Avila-Fernandez, Marta Del Pozo-Valero, Fiona Blanco-Kelly, Olga Zurita, Isabel Lorda-Sanchez

Ophthalmology· August 2019

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Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.
Maja Sukalo, Eva Schäflein, Ina Schanze, David B Everman, Nima Rezaei, Isabel Lorda-Sanchez

Mol Genet Genomic Med· November 2017

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Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.
Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas

PLoS One· August 2017

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Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Mingchu Xu, Yajing Angela Xie, Hana Abouzeid, Christopher T Gordon, Alessia Fiorentino, Isabel Lorda-Sanchez

Am J Hum Genet· April 2017

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Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin.
Sara Perlado, Ana Bustamante-Aragonés, Marta Donas, Isabel Lorda-Sánchez, Javier Plaza

PLoS One· August 2016

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Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA.
Carolina Sanchez-Jimeno, Ana Bustamante-Aragonés, Fernando Infantes-Barbero, Marta Rodriguez De Alba, Carmen Ramos

Clin Case Rep· December 2014

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Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies.
Ana Bustamante-Aragones, Sara Perlado-Marina, Maria José Trujillo-Tiebas, Jesús Gallego-Merlo, Isabel Lorda-Sanchez

J Clin Med· August 2014

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Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia.
Mónica Martínez García, Camilo Velez, María Fenollar-Cortés, Ana Bustamante, Isabel Lorda-Sanchez

Am J Med Genet A· April 2014

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Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood.
Sara Perlado-Marina, Ana Bustamante-Aragones, Laura Horcajada, Maria Jose Trujillo-Tiebas, Isabel Lorda-Sanchez

Diagnostics (Basel)· May 2013

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Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25).
Cristina González-González, Maria García-Hoyos, Rosario Hernaez Calzón, Carolina Arroyo Díaz, Cristina González Fanego

Ophthalmic Genet· June 2012

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[Holt-Oram syndrome: study of 7 cases].
Mónica Martínez-García, Isabel Lorda-Sanchez, Maria García-Hoyos, Carmen Ramos, Carmen Ayuso

Med Clin (Barc)· November 2010

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