Zobrazeno 1 - 10
of 49
pro vyhledávání: '"María Juliana Ballesta-Martínez"'
Autor:
María Juliana Ballesta-Martínez, Virginia Pérez-Fernández, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, Lidia Isolina Rodríguez-Peña, Maria Barreda-Sánchez, Lluís Armengol-Dulcet, Encarna Guillén-Navarro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Intellectual disability (ID) has a prevalence of 1–3% and aproximately 30–50% of ID cases have a genetic cause. Development of next-generation sequencing has shown a high diagnostic potential. The aim of this work was to evaluate the dia
Externí odkaz:
https://doaj.org/article/e6e8ba58378b4a60bbb269d823070007
Autor:
María José Sánchez Soler, Vanesa López-González, María Juliana Ballesta-Martínez, Jorge Gálvez-Pradillo, María Nicolás-Arnao, Emilio Gómez-Sánchez, Virginia Pérez-Fernández, Encarna Guillén Navarro
Publikováno v:
Anales de Pediatría, Vol 95, Iss 6, Pp 448-458 (2021)
Resumen: Introducción: En torno al 0,2-6,1% de los recién nacidos en los países desarrollados han sido concebidos por técnicas de reproducción asistida (TRA). Se han descrito tasas más altas de malformaciones congénitas (MC) mayores y menores
Externí odkaz:
https://doaj.org/article/face51d6cc92486783666e8bc157d544
Autor:
María José Sánchez Soler, Vanesa López-González, María Juliana Ballesta-Martínez, Jorge Gálvez-Pradillo, María Nicolás-Arnao, Emilio Gómez-Sánchez, Virginia Pérez-Fernández, Encarna Guillén Navarro
Publikováno v:
Anales de Pediatría (English Edition), Vol 95, Iss 6, Pp 448-458 (2021)
Introduction: About 0.2–6.1% of newborns in the developed world have been conceived by assisted reproductive techniques (ART). Higher rate of major and minor malformations have been described in this population, but the multiple possible confounder
Externí odkaz:
https://doaj.org/article/e005edd5589f4265817d54751f65c38b
Autor:
Pilar Quijada-Fraile, Elena Arranz Canales, Elena Martín-Hernández, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Guillem Pintos-Morell, Marc Moltó-Abad, David Moreno-Martínez, Salvador García Morillo, Javier Blasco-Alonso, María Luz Couce, Ricardo Gil Sánchez, Elisenda Cortès-Saladelafont, Mónica A. López Rodríguez, María Teresa García-Silva, Montserrat Morales Conejo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is a progressive and disabling disease characterized by a deficiency of the enzyme N-acetylgalactosamine-6-sulphate sulphatase. Its clinical presentation is very heterogeneous
Externí odkaz:
https://doaj.org/article/45d102193e154f53a8b2f74d26c527a5
Autor:
María José Sánchez-Soler, Ana Teresa Serrano-Antón, Vanesa López-González, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro
Publikováno v:
Anales de Pediatría (English Edition), Vol 96, Iss 3, Pp 253-255 (2022)
Externí odkaz:
https://doaj.org/article/806e90c1be7e413691a5a4d1f8f7c2f1
Autor:
María José Sánchez-Soler, Ana Teresa Serrano-Antón, Vanesa López-González, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro
Publikováno v:
Anales de Pediatría, Vol 96, Iss 3, Pp 253-255 (2022)
Externí odkaz:
https://doaj.org/article/c98c931f811340bbae945aa0f3b1a163
Autor:
Juan Buendía-Martínez, María Barreda-Sánchez, Lidya Rodríguez-Peña, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Elena Pérez-Tomás, Remedios Gil-Ferrer, Francisco Avilés-Plaza, Guillermo Glover-López, Carmen Carazo-Díaz, Encarna Guillén-Navarro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Background Acute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks. Long-term clinical conditions, chronic symptoms and impaired health related quality of life (HRQoL) have been reported during no
Externí odkaz:
https://doaj.org/article/2d572edc54f34f60976ee25f97abbae7
Autor:
Guillermo Amate-García, María Juliana Ballesta-Martínez, Pablo Serrano-Lorenzo, Rocío Garrido-Moraga, Adrián González-Quintana, Alberto Blázquez, Juan C. Rubio, Inés García-Consuegra, Joaquín Arenas, Cristina Ugalde, María Morán, Encarnación Guillén-Navarro, Miguel A. Martín
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 2, p 1743 (2023)
We report a neonatal patient with hypertrophic cardiomyopathy (HCM), lactic acidosis and isolated complex I deficiency. Using a customized next-generation sequencing panel, we identified a novel hemizygous variant c.338G>A in the X-linked NDUFB11 gen
Externí odkaz:
https://doaj.org/article/33db4f9c35624abc8ec9d105597e6149
Autor:
María José Sánchez-Soler, Vanesa López-González, María Juliana Ballesta-Martínez, Jorge Gálvez-Pradillo, Rosario Domingo-Martínez, Virginia Pérez-Fernández, Encarna Guillén-Navarro
Publikováno v:
Anales de Pediatría, Vol 92, Iss 4, Pp 200-207 (2020)
Resumen: Introducción: Más de 5 millones de niños han sido concebidos por técnicas de reproducción asistida (TRA) a nivel mundial. Aunque la mayoría de los autores no detecta diferencias en cuanto a desarrollo psicomotor, los resultados son aú
Externí odkaz:
https://doaj.org/article/864d61bd3f8a4e97b6eae61ff6ee667f
Autor:
María José Sánchez-Soler, Vanesa López-González, María Juliana Ballesta-Martínez, Jorge Gálvez- Pradillo, Rosario Domingo-Jiménez, Virgina Pérez-Fernández, Encarna Guillén-Navarro
Publikováno v:
Anales de Pediatría (English Edition), Vol 92, Iss 4, Pp 200-207 (2020)
Introduction: More than five million children have been conceived by assisted reproductive techniques (ART) around the world. Most authors agree that there are no differences in psychomotor development in comparison to naturally conceived children. H
Externí odkaz:
https://doaj.org/article/a98ad128edea45f7b7f5372dedbe33c9