Publications by authors named "Aurora Sanchez"

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Considerations for hereditary breast and ovarian cancer syndrome molecular diagnosis: experience from the clinical practice.
Miriam Potrony, Blai Morales-Romero, Lorena Moreno, Belen Pastor, Elia Grau

Breast Cancer Res Treat· April 2025

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Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
María Isabel Alvarez-Mora, Laia Rodríguez-Revenga, Meritxell Jodar, Miriam Potrony, Aurora Sanchez

Genes (Basel)· March 2023

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Epidemiologic Features and Control Measures during Monkeypox Outbreak, Spain, June 2022.
Berta Suárez Rodríguez, Bernardo R Guzmán Herrador, Asunción Díaz Franco, María Paz Sánchez-Seco Fariñas, Julia Del Amo Valero

Emerg Infect Dis· September 2022

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Very Long Time Persistent HyperCKemia as the First Manifestation of McLeod Syndrome: A Case Report.
Viviana Torres, Cèlia Painous, Pilar Santacruz, Aurora Sánchez, Cristina Sanz

Mov Disord Clin Pract· August 2022

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Genetic Cardiomyopathy May Overlap Fulminant Myocarditis Clinical Findings.
Paloma Jordà, Daniel Martínez, Marta Farrero, María Ángeles Marcos, Elena Sandoval

Circ Heart Fail· March 2022

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Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
María Isabel Álvarez-Mora, Aurora Sánchez, Laia Rodríguez-Revenga, Jordi Corominas, Raquel Rabionet

Orphanet J Rare Dis· February 2022

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A novel germline variant in RET gene resulting in an additional cysteine in a family with familial medullary thyroid carcinoma.
Josep Oriola, Aurora Sanchez, Blanca Paniello, Jordi Puig de la Bellacasa, Josefina Biarnés

Fam Cancer· July 2021

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Novel Compound Heterozygous Mutation in Gene: The Relevance of Whole Genome Sequencing.
Maria Isabel Alvarez-Mora, Jordi Corominas, Christian Gilissen, Aurora Sanchez, Irene Madrigal

Genes (Basel)· April 2021

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Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological pattern.
Ferran Seguí, Lidia Gonzalez-Quereda, Aurora Sanchez, Ana Matas-García, Gloria Garrabou

Neurol Sci· October 2020

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Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Jordi Diaz-Manera, Jorge Alonso-Perez, Eduard Gallardo, Aurora Sanchez

Genes (Basel)· May 2020

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Overview of Chromosome Abnormalities in First Trimester Miscarriages: A Series of 1,011 Consecutive Chorionic Villi Sample Karyotypes.
Anna Soler, Carme Morales, Irene Mademont-Soler, Ester Margarit, Antoni Borrell

Cytogenet Genome Res· September 2017

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A 92,XXXY Miscarriage Consecutive to a Digynic Triploid Pregnancy.
Anna Soler, Cèlia Badenas, Ester Margarit, Irene Madrigal, Míriam Muñoz

Cytogenet Genome Res· January 2017

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Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism.
Alba Tristán-Noguero, Héctor Díez, Cristina Jou, Mercè Pineda, Aida Ormazábal

Metab Brain Dis· June 2016

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Marfan syndrome: ocular findings and novel mutations-in pursuit of genotype-phenotype associations.
Marta Latasiewicz, Christian Fontecilla, Elena Millá, Aurora Sánchez

Can J Ophthalmol· April 2016

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Anti-apoptotic, anti-oxidant, and anti-inflammatory effects of thalidomide on cerebral ischemia/reperfusion injury in rats.
Guadalupe Palencia, Juan Ángel Núñez- Medrano, Alma Ortiz-Plata, Dolores Jiménez Farfán, Julio Sotelo

J Neurol Sci· April 2015

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Nuchal translucency thickness in the prediction of unbalanced translocations.
Marta Arigita, Maribel Grande, Raquel Mula, Virginia Borobio, Aurora Sanchez

Prenat Diagn· October 2014

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Immunisation against meningococcus B: the case of Spain.
Aurora Limia Sánchez, José A Navarro-Alonso, Francisco Salmerón García

Lancet· January 2014

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Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis.
Laura Gort, M Reyes Granell, Gema Fernández, Práxedes Carreto, Aurora Sanchez

Prenat Diagn· December 2012

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Synthetic zinc finger repressors reduce mutant huntingtin expression in the brain of R6/2 mice.
Mireia Garriga-Canut, Carmen Agustín-Pavón, Frank Herrmann, Aurora Sánchez, Mara Dierssen

Proc Natl Acad Sci U S A· November 2012

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The effect of maternal age on chromosomal anomaly rate and spectrum in recurrent miscarriage.
Maribel Grande, Antoni Borrell, Raul Garcia-Posada, Virginia Borobio, Miriam Muñoz, Aurora Sanchez

Hum Reprod· October 2012

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MLPA: a prenatal diagnostic tool for the study of congenital heart defects?
Irene Mademont-Soler, Carme Morales, Anna Soler, Núria Clusellas, Ester Margarit

Gene· May 2012

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Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability.
Ester Margarit, Carme Morales, Laia Rodríguez-Revenga, Raquel Monné, Cèlia Badenas

Am J Med Genet A· March 2012

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Use of fetal nuchal translucency in the first trimester to predict single-gene disorders.
Marta Arigita, Antoni Borrell, Raquel Mula, Aurora Sanchez, Montse Milà

Prenat Diagn· December 2011

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Prenatal cytogenetic diagnosis in Spain: analysis and evaluation of the results obtained from amniotic fluid samples during the last decade.
Irene Mademont-Soler, Carme Morales, Núria Clusellas, Anna Soler, Aurora Sánchez

Eur J Obstet Gynecol Reprod Biol· August 2011

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Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes.
Kazuhiko Nakabayashi, Alex Martin Trujillo, Chiharu Tayama, Cristina Camprubi, Wataru Yoshida, Aurora Sanchez

Hum Mol Genet· August 2011

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