Publications by authors named "Montse Pauta"

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Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing-PanelApp R21 and HPO-Driven Versus OMIM-Based Gene Lists.
Victoria Ardiles-Ruesjas, Laia Rodriguez-Revenga, Montse Pauta, Alfons Nadal, Gemma Arca

Prenat Diagn· January 2026

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Psychological Impact in Early Pregnancy Loss: The Effects of Disclosing the Causative Chromosomal Anomaly.
Maria Borrell, Montse Pauta, Aida Mallorquí, Victoria Ardiles-Ruesjas, Virginia Borobio

Fetal Diagn Ther· August 2025

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Genome-Wide Cell-Free DNA Analysis for Aneuploidy Detection in Miscarriages: Test Performance Meta-Analysis.
Montse Pauta, Raigam J Martinez-Portilla, Ana Cecilia Jara-Ettinger, Victoria Ardiles-Ruesjas, Antoni Borrell

Prenat Diagn· July 2025

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Prenatal Screening of Chromosomal Anomalies Using Genome-Wide or Target Cell-Free DNA: Preferences and Satisfaction of Pregnant Women.
Victoria Ardiles-Ruesjas, Roser Viñals, Montse Pauta, Irene Madrigal, Antoni Borrell

J Clin Med· August 2024

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Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Gillian V Blayney, Eoghan Laffan, Preethi A Jacob, Caitlin D Baptiste, Heinz Gabriel, Montse Pauta

Prenat Diagn· April 2024

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A novel NONO nonsense variant in a fetus with renal abnormalities.
Laia Rodriguez-Revenga, Alfons Nadal, Virginia Borobio, Maria Isabel Álvarez-Mora, Irene Madrigal, Montse Pauta

Prenat Diagn· January 2024

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Prenatal Exome Sequencing Analysis in Fetuses with Various Ultrasound Findings.
Antoni Borrell, Elena Ordoñez, Montse Pauta, Juan Otaño, Fernanda Paz-Y-Miño

J Clin Med· December 2023

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Liver FoxO1 overexpression is positively associated with the degree of liver injury in cirrhotic patients.
Esther Fernández-Galán, Silvia Sandalinas, Laura Macias-Muñoz, Irene Portolés, Jordi Ribera, Montse Pauta

Adv Lab Med· September 2023

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[Not Available].
Esther Fernández-Galán, Silvia Sandalinas, Laura Macias-Muñoz, Irene Portolés, Jordi Ribera, Montse Pauta

Adv Lab Med· September 2023

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Diagnostic yield of exome sequencing in isolated fetal growth restriction: Systematic review and meta-analysis.
Montse Pauta, Raigam J Martinez-Portilla, Eva Meler, Juan Otaño, Antoni Borrell

Prenat Diagn· May 2023

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Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.
Miriam Potrony, Antoni Borrell, Narcís Masoller, Alfons Nadal, Leonardo Rodriguez-Carunchio, Montse Pauta

J Clin Med· June 2022

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Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.
Montse Pauta, Berta Campos, Maria Segura-Puimedon, Gemma Arca, Alfons Nadal

Fetal Diagn Ther· December 2021

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Cell-Free DNA Testing: What Is the Reason Why High-Risk Women Choose It?
Leticia Benítez-Quintanilla, Montse Pauta, Isabel Matas, Irene Madrigal, Antoni Borrell

Fetal Diagn Ther· November 2021

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Have maternal or paternal ages any impact on the prenatal incidence of genomic copy number variants associated with fetal structural anomalies?
Marta Larroya, Marta Tortajada, Eduard Mensión, Montse Pauta, Laia Rodriguez-Revenga

PLoS One· November 2021

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Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.
Montse Pauta, Raigam Jafet Martinez-Portilla, Antoni Borrell

J Clin Med· October 2021

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The Contribution of QF-PCR and Pathology Studies in the Diagnosis of Diandric Triploidy/Partial Mole.
Leticia Benítez, Montse Pauta, Cèlia Badenas, Irene Madrigal, Alfons Nadal

Diagnostics (Basel)· September 2021

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Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene.
Gerard Frigola, Olga Gómez Del Rincón, Virginia Borobio Florián, Anna Vallmajó Fita, Berta Campos, Montse Pauta

Virchows Arch· August 2021

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Is Cisterna Magna Width a Useful First-Trimester Marker of Aneuploidy?
Montse Pauta, Maribel Grande, Virginia Borobio, Carmen Illanes, Anna Soler

Fetal Diagn Ther· April 2021

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A New Stepwise Molecular Work-Up After Chorionic Villi Sampling in Women With an Early Pregnancy Loss.
Montse Pauta, Cèlia Badenas, Laia Rodriguez-Revenga, Anna Soler, Maribel Grande

Front Genet· January 2021

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A Randomized Controlled Trial on the Influence of Prenatal Counseling on the Attitudes and Preferences Toward Invasive Prenatal Testing Among Women in Their First Trimester of Pregnancy (INVASIVE).
Fernanda Paz Y Miño, Raigam Jafet Martinez-Portilla, Montse Pauta, Antoni Borrell

Front Genet· November 2020

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Maternal plasma genome-wide cell-free DNA can detect fetal aneuploidy in early and recurrent pregnancy loss and can be used to direct further workup.
Yuval Yaron, Montse Pauta, Celia Badenas, Anna Soler, Virginia Borobio

Hum Reprod· May 2020

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Cerium oxide nanoparticles improve liver regeneration after acetaminophen-induced liver injury and partial hepatectomy in rats.
Bernat Córdoba-Jover, Altamira Arce-Cerezo, Jordi Ribera, Montse Pauta, Denise Oró

J Nanobiotechnology· October 2019

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Parental Origin of the Retained X Chromosome in Monosomy X Miscarriages and Ongoing Pregnancies.
Maribel Grande, Iosifina Stergiotou, Montse Pauta, Borja Marquès, Cèlia Badenas

Fetal Diagn Ther· September 2019

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Novel Inhaled Pan-JAK Inhibitor, LAS194046, Reduces Allergen-Induced Airway Inflammation, Late Asthmatic Response, and pSTAT Activation in Brown Norway Rats.
Marta Calbet, Isabel Ramis, Elena Calama, Cristina Carreño, Stephane Paris, Montse Pauta

J Pharmacol Exp Ther· August 2019

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Chromosomal Microarray Analysis in Fetuses with Growth Restriction and Normal Karyotype: A Systematic Review and Meta-Analysis.
Antoni Borrell, Maribel Grande, Montse Pauta, Laia Rodriguez-Revenga, Francesc Figueras

Fetal Diagn Ther· November 2018

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