Výsledky vyhledávání - "Mar Borregan"

Akademický článek

Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio

Autor: Neus Castells-Sarret, Anna M. Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Eduardo Tizzano, Alberto Plaja

Publikováno v: Anales de Pediatría, Vol 89, Iss 1, Pp 3-11 (2018)

Resumen: Fundamento y objetivo: La citogenética convencional detecta un 3-5% de los pacientes con retraso global del desarrollo/discapacidad intelectual y/o malformaciones congénitas. La amplificación de sondas múltiples dependientes de ligación

Externí odkaz: https://doaj.org/article/96b2da0718b8405fb1788e89fcee444a

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Akademický článek

Comparative genomic hybridisation as a first option in genetic diagnosis: 1000 cases and a cost–benefit analysis

Autor: Neus Castells-Sarret, Anna M. Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Eduardo Tizzano, Alberto Plaja

Publikováno v: Anales de Pediatría (English Edition), Vol 89, Iss 1, Pp 3-11 (2018)

Background and objective: Conventional cytogenetics diagnoses 3–5% of patients with unexplained developmental delay/intellectual disability and/or multiple congenital anomalies. The Multiplex Ligation-dependent Probe Amplification increases diagnos

Externí odkaz: https://doaj.org/article/9f076a269c284212af374c79ff0580c0

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De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder

Autor: Cristina Hernando‐Davalillo, Adrián Alcalá San Martín, Mar Borregan Prats, Juan Darío Ortigoza‐Escobar

Publikováno v: Clinical Genetics. 102:434-437

Genetic studies have established a connection between FAT1 (FAT atypical cadherin 1) deletion and variants and autism spectrum disorder (ASD). Here, we describe a 7-year-old girl who sought a neurology consultation in order to be evaluated for ASD an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb1a444378ba768ce40872b3c3ac527e
https://doi.org/10.1111/cge.14194

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Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction

Autor: Josep Ramon Marsal, Laura Gutierrez-Garcia, Juan Ramón Gimeno-Blanes, Pier Giorgio Masci, Juan Jiménez-Jáimez, Gisela Teixido-Tura, Marta Codina-Solà, Gerard Oristrell, Coloma Tiron, Ignacio Ferreira-González, Andrea Guala, Pablo García-Pavía, Paula Fernández-Álvarez, Juan José Santos-Mateo, Esther Zorio, José Luis de la Pompa, Artur Evangelista, José Manuel García-Pinilla, Daniele Andreini, Eduardo Villacorta, Tomás Ripoll-Vera, Ángela López-Sainz, José Rodríguez-Palomares, José Antonio Sorolla-Romero, Gianluca Pontone, Lucia La Mura, Javier Limeres, Jan Bogaert, Mar Borregan, Augusto Sao Avilés, Julián Palomino-Doza, Rafaela Soler-Fernandez, Aida Ribera, Josefa González-Carrillo, José M. Larrañaga-Moreira, Guillem Casas, Giovanni Donato Aquaro, Roberto Barriales-Villa, Antoni Bayes-Genis

Publikováno v: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Left ventricular noncompaction (LVNC) is a heterogeneous entity with uncertain prognosis. This study sought to develop and validate a prediction model of major adverse cardiovascular events (MACE) and to identify LVNC cases without events during long

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14e8a730451c9b72a9f4bb3b686d9ef1
https://doi.org/10.1016/j.jacc.2021.06.016

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Akademický článek

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From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

Autor: Antonio, Martinez-Monseny, Daniel, Cuadras, Mercè, Bolasell, Jordi, Muchart, César, Arjona, Mar, Borregan, Adi, Algrabli, Raquel, Montero, Rafael, Artuch, Ramón, Velázquez-Fragua, Alfons, Macaya, Celia, Pérez-Cerdá, Belén, Pérez-Dueñas, Belén, Pérez, Mercedes, Serrano, Oscar, Garcia

Publikováno v: Journal of Medical Genetics. 56:236-245

IntroductionPhosphomannomutase-2 deficiency (PMM2-CDG) is associated with a recognisable facial pattern. There are no early severity predictors for this disorder and no phenotype–genotype correlation. We performed a detailed dysmorphology evaluatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b2f815a8132b7728c60fcb8b2ac5bca
https://doi.org/10.1136/jmedgenet-2018-105588

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A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases

Autor: Laura Lorente-Grandoso, Elisabet Ars, Andrea Domingo-Gallego, Gemma Bullich, Gloria Fraga, Juan Alberto Piñero-Fernández, A. Madrid, Mar Borregan, José Ballarín, Mireia Aguirre Meñica, Lidia Rodríguez-Peña, Roser Torra, Mónica Furlano, David Torrents, Isabel Llano-Rivas, Patricia Ruiz, Ivan Vargas, Gema Ariceta, María Juliana Ballesta-Martínez

Publikováno v: Kidney International. 94:363-371

Molecular diagnosis of inherited kidney diseases remains a challenge due to their expanding phenotypic spectra as well as the constantly growing list of disease-causing genes. Here we develop a comprehensive approach for genetic diagnosis of inherite

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6534b9ce8b15dad57d673798b5be402c
https://doi.org/10.1016/j.kint.2018.02.027

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Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio

Autor: Fermina López-Grondona, Anna M. Cueto-González, Alberto Plaja, Neus Castells-Sarret, Mar Borregan, Rosa Miró, Eduardo F. Tizzano

Publikováno v: Anales de Pediatría, Vol 89, Iss 1, Pp 3-11 (2018)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f3ff328602151f3defdf9d1b4fd9ae9
http://www.sciencedirect.com/science/article/pii/S1695403317303065

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Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome

Autor: Romy Franken, Laura Gutiérrez García-Moreno, David Garcia-Dorado, Artur Evangelista, Valentina Galuppo, Barbara J.M. Mulder, Gisela Teixido-Tura, Mar Borregan

Publikováno v: Heart (British Cardiac Society), 102(8), 626-632. BMJ Publishing Group

This study aimed to determine aortic disease severity in patients with Loeys-Dietz syndrome (LDS). Thirty-three patients with LDS diagnosed and followed up at our unit were included. After reviewing all family trees, 25 deceased family members with c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12935bf5cfe88f4505340722960b6166
https://doi.org/10.1136/heartjnl-2015-308535

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