Five patients with disorders of calcium metabolism presented with GCM2 gene variants
García-Castaño, Alejandro, Madariaga, Leire, Gómez-Conde, Sara, Cordo, Carmen Lourdes Rey, López-Iglesias, María, Garcia-Fernández, Yolanda, Martín, Alicia, González, Pedro, Goicolea, Ignacio, de Nanclares, Gustavo Pérez, De la Hoz, Ana Belén, Aguayo, Aníbal, de LaPiscina, Idoia Martínez, Martínez, Rosa, Saso, Laura, Urrutia, Inés, Velasco, Olaia, Castaño, Luis, Gaztambide, Sonia
Published in Scientific reports (03.02.2021)
Published in Scientific reports (03.02.2021)
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Journal Article
A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism
Tejada, María‐Isabel, Elcoroaristizabal, Xabier, Ibarluzea, Nekane, Botella, María‐Pilar, de la Hoz, Ana‐Belén, Ocio, Intzane
Published in Clinical genetics (01.02.2019)
Published in Clinical genetics (01.02.2019)
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Journal Article
Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3
García-Castaño, Alejandro, Gómez-Conde, Sara, Gondra, Leire, Herrero, María, Aguirre, Mireia, de la Hoz, Ana-Belén, Castaño, Luis, Madariaga, Leire
Published in Scientific reports (03.08.2023)
Published in Scientific reports (03.08.2023)
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Journal Article
Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)
Tejada, María Isabel, Villate, Olatz, Ibarluzea, Nekane, de la Hoz, Ana Belén, Martínez-Bouzas, Cristina, Beristain, Elena, Martínez, Francisco, Friez, Michael J., Sobrino, Beatriz, Barros, Francisco
Published in Frontiers in genetics (31.10.2019)
Published in Frontiers in genetics (31.10.2019)
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Journal Article
Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis
Aguilera-Albesa, Sergio, de la Hoz, Ana Belén, Ibarluzea, Nekane, Ordóñez-Castillo, Andrés R, Busto-Crespo, Olivia, Villate, Olatz, Ibiricu-Yanguas, María Asunción, Yoldi-Petri, María E, García de Gurtubay, Iñaki, Perez de Nanclares, Guiomar, Pereda, Arrate, Tejada, María Isabel
Published in Frontiers in neurology (14.02.2020)
Published in Frontiers in neurology (14.02.2020)
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Journal Article
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability
Ibarluzea, Nekane, Hoz, Ana Belén de la, Villate, Olatz, Llano, Isabel, Ocio, Intzane, Martí, Itxaso, Guitart, Miriam, Gabau, Elisabeth, Andrade, Fernando, Gener, Blanca, Tejada, María-Isabel
Published in Genes (02.01.2020)
Published in Genes (02.01.2020)
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Journal Article
Novel variant in the CNNM2 gene associated with dominant hypomagnesemia
García-Castaño, Alejandro, Madariaga, Leire, Antón-Gamero, Montserrat, Mejia, Natalia, Ponce, Jenny, Gómez-Conde, Sara, Pérez de Nanclares, Gustavo, De la Hoz, Ana Belén, Martínez, Rosa, Saso, Laura, Martínez de LaPiscina, Idoia, Urrutia, Inés, Velasco, Olaia, Aguayo, Aníbal, Castaño, Luis, Gaztambide, Sonia
Published in PloS one (30.09.2020)
Published in PloS one (30.09.2020)
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Journal Article
Murine double minute 2 regulates Hu antigen R stability in human liver and colon cancer through NEDDylation
Embade, Nieves, Fernández-Ramos, David, Varela-Rey, Marta, Beraza, Naiara, Sini, Marcella, de Juan, Virginia Gutiérrez, Woodhoo, Ashwin, Martínez-López, Nuria, Rodríguez-Iruretagoyena, Begoña, Bustamante, Francisco Javier, de la Hoz, Ana Belén, Carracedo, Arkaitz, Xirodimas, Dimitris P., Rodríguez, Manuel S., Lu, Shelly C., Mato, José M., Martínez-Chantar, María L.
Published in Hepatology (Baltimore, Md.) (01.04.2012)
Published in Hepatology (Baltimore, Md.) (01.04.2012)
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Journal Article
Genetic profile of a large Spanish cohort with hypercalcemia
García-Castaño, Alejandro, Madariaga, Leire, Gómez-Conde, Sara, González, Pedro, Grau, Gema, Rica, Itxaso, de Nanclares, Gustavo Pérez, De la Hoz, Ana Belén, Aguayo, Aníbal, Martínez, Rosa, Urrutia, Inés, Gaztambide, Sonia, Castaño, Luis
Published in Frontiers in endocrinology (Lausanne) (2024)
Published in Frontiers in endocrinology (Lausanne) (2024)
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Journal Article
3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases
Ezquerra, Maitane, Martínez-González, María Jesús, García-Rives, Ainhoa, Maortua, Hiart, de la Hoz, Ana Belén, Tejada, María-Isabel
Published in Case reports in genetics (01.01.2015)
Published in Case reports in genetics (01.01.2015)
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Journal Article
Novel variant in the CNNM2 gene associated with dominant hypomagnesemia
Alejandro García-Castaño, Leire Madariaga, Montserrat Antón-Gamero, Natalia Mejia, Jenny Ponce, Sara Gómez-Conde, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Rosa Martínez, Laura Saso, Idoia Martínez de LaPiscina, Inés Urrutia, Olaia Velasco, Aníbal Aguayo, Luis Castaño, Sonia Gaztambide, Obul Reddy Bandapalli
Published in PloS one (01.01.2020)
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Published in PloS one (01.01.2020)
Journal Article
Mdm2 regulates HuR stability in human liver and colon cancer through Neddylation
Embade, Nieves, Fernández-Ramos, David, Varela-Rey, Marta, Beraza, Naiara, Sini, Marcella, de Juan, Virginia Gutiérrez, Woodhoo, Ashwin, Martínez-López, Nuria, Rodríguez-Iruretagoyena, Begoña, Bustamante, Francisco Javier, de la Hoz, Ana Belén, Carracedo, Arkaitz, Xirodimas, Dimitris P., Rodríguez, Manuel S, Lu, Shelly C, Mato, José M, Martínez-Chantar, María L
Published in Hepatology (Baltimore, Md.) (01.03.2012)
Published in Hepatology (Baltimore, Md.) (01.03.2012)
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Journal Article
Simple Virilizing Congenital Adrenal Hyperplasia: A case Report of Sudanese 46, XY DSD male with G293D variant in CYP21A2
Ellaithi, Mona, de LaPiscina, Idoia Martinez, de La Hoz, Ana Belen, de Nanclares, Gustavo Perez, Alasha, Marwah Abdelrahman, Hemaida, Maisa Aldai, Castano, Luis
Published in The open pediatric medicine journal (31.12.2019)
Published in The open pediatric medicine journal (31.12.2019)
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Journal Article
Prediction of Bladder Cancer Recurrences Using Artificial Neural Networks
Zulueta Guerrero, Ekaitz, Garay, Naiara Telleria, Lopez-Guede, Jose Manuel, Vilches, Borja Ayerdi, Iragorri, Eider Egilegor, Castaños, David Lecumberri, de la Hoz Rastrollo, Ana Belén, Peña, Carlos Pertusa
Published in Hybrid Artificial Intelligence Systems (2010)
Published in Hybrid Artificial Intelligence Systems (2010)
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Book Chapter
Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis
Aguilera-Albesa, Sergio, de la Hoz, Ana Belén, Ibarluzea, Nekane, Ordóñez-Castillo, Andrés R, Busto-Crespo, Olivia, Villate, Olatz, Ibiricu-Yanguas, María Asunción, Yoldi-Petri, María E, García de Gurtubay, Iñaki, Perez de Nanclares, Guiomar, Pereda, Arrate, Tejada, María Isabel
Published in Frontiers in neurology (01.01.2020)
Published in Frontiers in neurology (01.01.2020)
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Report
Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)
Tejada, María Isabel, Villate, Olatz, Ibarluzea, Nekane, de la Hoz, Ana Belén, Martínez-Bouzas, Cristina, Beristain, Elena, Martínez, Francisco, Friez, Michael J, Sobrino, Beatriz, Barros, Francisco
Published in Frontiers in genetics (01.01.2019)
Published in Frontiers in genetics (01.01.2019)
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Report