Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel
Bravo-Gil, Nereida, Méndez-Vidal, Cristina, Romero-Pérez, Laura, González-del Pozo, María, Rodríguez-de la Rúa, Enrique, Dopazo, Joaquín, Borrego, Salud, Antiñolo, Guillermo
Published in Scientific reports (01.04.2016)
Published in Scientific reports (01.04.2016)
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Journal Article
Insights into neurosonographic indicators for prenatal diagnosis of fetal neurological anomalies and cortical development: A systematic review of the literature
Vargas-Rodríguez, Carmen, Chimenea, Angel, Antiñolo, Guillermo, García-Díaz, Lutgardo
Published in Early human development (01.10.2024)
Published in Early human development (01.10.2024)
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Journal Article
Epigenetic Mechanisms in Hirschsprung Disease
Torroglosa, Ana, Villalba-Benito, Leticia, Luzón-Toro, Berta, Fernández, Raquel María, Antiñolo, Guillermo, Borrego, Salud
Published in International journal of molecular sciences (26.06.2019)
Published in International journal of molecular sciences (26.06.2019)
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Journal Article
Prenatal diagnosis of VACTERL association after early‐first trimester SARS‐COV‐2 infection
Chimenea, Angel, García‐Díaz, Lutgardo, Calderón, Ana María, Antiñolo, Guillermo
Published in Congenital anomalies (01.03.2023)
Published in Congenital anomalies (01.03.2023)
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Journal Article
Delving into the Role of lncRNAs in Papillary Thyroid Cancer: Upregulation of LINC00887 Promotes Cell Proliferation, Growth and Invasion
Tous, Cristina, Muñoz-Redondo, Carmen, Gavilán, Angela, Bravo-Gil, Nereida, Baco-Antón, Fátima, Navarro-González, Elena, Antiñolo, Guillermo, Borrego, Salud
Published in International journal of molecular sciences (01.02.2024)
Published in International journal of molecular sciences (01.02.2024)
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Journal Article
RMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancer
Luzón-Toro, Berta, Villalba-Benito, Leticia, Fernández, Raquel María, Torroglosa, Ana, Antiñolo, Guillermo, Borrego, Salud
Published in Orphanet journal of rare diseases (06.01.2021)
Published in Orphanet journal of rare diseases (06.01.2021)
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Journal Article
What is new about the genetic background of Hirschsprung disease?
Luzón‐Toro, Berta, Villalba‐Benito, Leticia, Torroglosa, Ana, Fernández, Raquel M., Antiñolo, Guillermo, Borrego, Salud
Published in Clinical genetics (01.01.2020)
Published in Clinical genetics (01.01.2020)
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Journal Article
Assessing the impact of pregnancy planning on obstetric and perinatal outcomes in women with pregestational diabetes mellitus
Chimenea, Angel, Calderón, Ana María, Antiñolo, Guillermo, Moreno-Reina, Eduardo, García-Díaz, Lutgardo
Published in Diabetes research and clinical practice (01.03.2024)
Published in Diabetes research and clinical practice (01.03.2024)
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Journal Article
Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease
Villalba-Benito, Leticia, Torroglosa, Ana, Fernández, Raquel María, Ruíz-Ferrer, Macarena, Moya-Jiménez, María José, Antiñolo, Guillermo, Borrego, Salud
Published in Scientific reports (24.07.2017)
Published in Scientific reports (24.07.2017)
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Journal Article
Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing
Tous, Cristina, Muñoz-Redondo, Carmen, Bravo-Gil, Nereida, Gavilan, Angela, Fernández, Raquel María, Antiñolo, Juan, Navarro-González, Elena, Antiñolo, Guillermo, Borrego, Salud
Published in International journal of molecular sciences (25.04.2023)
Published in International journal of molecular sciences (25.04.2023)
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Journal Article
Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model
Alves, Maria M., Sribudiani, Yunia, Brouwer, Rutger W.W., Amiel, Jeanne, Antiñolo, Guillermo, Borrego, Salud, Ceccherini, Isabella, Chakravarti, Aravinda, Fernández, Raquel M., Garcia-Barcelo, Maria-Mercè, Griseri, Paola, Lyonnet, Stanislas, Tam, Paul K., van IJcken, Wilfred F.J., Eggen, Bart J.L., te Meerman, Gerard J., Hofstra, Robert M.W.
Published in Developmental biology (01.10.2013)
Published in Developmental biology (01.10.2013)
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Journal Article
Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants
González-Del Pozo, María, Fernández-Suárez, Elena, Martín-Sánchez, Marta, Bravo-Gil, Nereida, Méndez-Vidal, Cristina, Rodríguez-de la Rúa, Enrique, Borrego, Salud, Antiñolo, Guillermo
Published in Journal of translational medicine (12.02.2020)
Published in Journal of translational medicine (12.02.2020)
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Journal Article
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases
Bravo-Gil, Nereida, González-del Pozo, María, Martín-Sánchez, Marta, Méndez-Vidal, Cristina, Rodríguez-de la Rúa, Enrique, Borrego, Salud, Antiñolo, Guillermo
Published in Scientific reports (03.02.2017)
Published in Scientific reports (03.02.2017)
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Journal Article
Maternal effects induced by oral digoxin during treatment of fetal tachyarrhythmia: Case series and literature review
Chimenea, Ángel, García-Díaz, Lutgardo, Méndez, Ana, Antiñolo, Guillermo
Published in European journal of obstetrics & gynecology and reproductive biology (01.01.2021)
Published in European journal of obstetrics & gynecology and reproductive biology (01.01.2021)
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Journal Article
Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease
Torroglosa, Ana, Villalba-Benito, Leticia, Fernández, Raquel María, Luzón-Toro, Berta, Moya-Jiménez, María José, Antiñolo, Guillermo, Borrego, Salud
Published in International journal of molecular sciences (02.08.2020)
Published in International journal of molecular sciences (02.08.2020)
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Journal Article