17 results on '"de la Hoz, Ana Belén"'
Search Results
2. Immunogenicity and reactogenicity of BNT162b2 booster in ChAdOx1-S-primed participants (CombiVacS): a multicentre, open-label, randomised, controlled, phase 2 trial
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Martínez de Soto, Lucía, Rodríguez Mariblanca, Amelia, Díaz García, Lucía, Ramírez García, Elena, Seco Meseguer, Enrique, Stewart Balbás, Stefan Mark, Marín Candón, Alicia, García García, Irene, Urroz Elizalde, Mikel, Monserrat Villatoro, Jaime, de la Rosa, Paula, Sanz García, Marta, López Crespo, Cristina, Mauleón Martínez, Vega, de Madariaga Castell, Raquel, Vitón Vara, Laura, García Rodríguez, Julio, Buño, Antonio, López Granados, Eduardo, Cámara, Carmen, Rey Cuevas, Esther, Ayllon García, Pilar, Jiménez González, María, Hernández Rubio, Victoria, Moraga Alapont, Paloma, Sánchez, Amparo, Prieto, Rocío, Llorente Gómez, Silvia, Miragall Roig, Cristina, Aparicio Marlasca, Marina, de la Calle, Fernando, Arsuaga, Marta, Duque, Blanca, Meijide, Susana, García de Vicuña, Aitor, Santorcuato, Ana, Expósito, Iraide, de Benito, Sara, Andia, Joseba, Castillo, Cristina, Irurzun, Esther, Camino, Jesús, Temprano, Mikel, Goikoetxea, Josune, Bustinza, Alazne, Larrea, Maialen, Gallego, Mikel, García-Vázquez, Dolores, de la Hoz, Ana Belén, Pérez-Nanclares, Gustavo, Pérez-Guzmán, Estíbaliz, Idoyaga, Eneko, Lamela, Adriana, Oteo, Jesús, Castillo de la Osa, María, Hernández Gutiérrez, Lourdes, Andrés Galván, María Elena, Calonge, Esther, Bermejo, Mercedes, de la Torre-Tarazona, Erick Humberto, Cascajero, Almudena, Fedele, Giovanni, Perea, Concepción, Cervera, Isabel, Bodega-Mayor, Irene, Montes-Casado, María, Portolés, Pilar, Baranda, Jana, Granés, Laura, Lazaar, Sulayman, Herranz, Sara, Mellado, María Eugènia, Tortajada, Marta, Malet, Montserrat, Quesada, Sebastiana, Vilella, Anna, Llupià, Anna, Olivé, Victoria, Trilla, Antoni, Gómez, Begoña, González, Elisenda, Romero, Sheila, Gámez, Francisco Javier, Casals, Cristina, Burunat, Laura, Castelló, Juan José, Fernández, Patricia, Bedini, Josep Lluís, Vila, Jordi, Aguilar, Carla, Altadill, Carmen, Armadans, Lluis, Borras-Bermejo, Blanca, Calonge, Julia, Camacho, Lina, Feliu, Anna, Gili, Gisela, Llorente, Cesar, Martínez-Gómez, Xavier, Otero-Romero, Susana, Palacio, Esther, Parés, Oleguer, Pinós, Laia, Plaza, Aitana, Riera-Arnau, Judit, Rodrigo-Pendás, José Angel, Sans, Carla, Santos, José, Torres, Gloria, Torrens, Margarita, Uriona, Sonia, Ballarin Alins, Elena, Pérez Esquirol, Eulàlia, Vendrell Bosch, Lourdes, Laredo Velasco, Leonor, Uribe López, Diana, González Rojano, Esperanza, Sánchez-Craviotto, Manuel, Rivas Paterna, Ana Belén, Hernán-Gómez, Teresa Iglesias, Rodríguez Galán, Natalia, Gil Marín, José Antonio, Álvarez-Morales, Verónica, Navalpotro, Ana Belén, Jiménez-Santamaría, M Dolores, Cardós, M Carmen, Hermoso, Elena, García-Arenillas, Mar, Pérez Macías, Natalia, Domingo Fernández, Alexandra, López Picado, Amanda, Quiñones, Jorge Mario, Deidda, Nicoletta, García-Franco, Ana, Torvisco, José María, Borobia, Alberto M, Carcas, Antonio J, Pérez-Olmeda, Mayte, Castaño, Luis, Bertran, María Jesús, García-Pérez, Javier, Campins, Magdalena, Portolés, Antonio, González-Pérez, María, García Morales, María Teresa, Arana-Arri, Eunate, Aldea, Marta, Díez-Fuertes, Francisco, Fuentes, Inmaculada, Ascaso, Ana, Lora, David, Imaz-Ayo, Natale, Barón-Mira, Lourdes E, Agustí, Antonia, Pérez-Ingidua, Carla, Gómez de la Cámara, Agustín, Arribas, José Ramón, Ochando, Jordi, Alcamí, José, Belda-Iniesta, Cristóbal, and Frías, Jesús
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- 2021
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3. Five patients with disorders of calcium metabolism presented with GCM2 gene variants
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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, and Gaztambide, Sonia
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- 2021
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4. Immunogenicity and reactogenicity of BNT162b2 booster in ChAdOx1-S-primed participants (CombiVacS): a multicentre, open-label, randomised, controlled, phase 2 trial
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Borobia, Alberto M, primary, Carcas, Antonio J, additional, Pérez-Olmeda, Mayte, additional, Castaño, Luis, additional, Bertran, María Jesús, additional, García-Pérez, Javier, additional, Campins, Magdalena, additional, Portolés, Antonio, additional, González-Pérez, María, additional, García Morales, María Teresa, additional, Arana-Arri, Eunate, additional, Aldea, Marta, additional, Díez-Fuertes, Francisco, additional, Fuentes, Inmaculada, additional, Ascaso, Ana, additional, Lora, David, additional, Imaz-Ayo, Natale, additional, Barón-Mira, Lourdes E, additional, Agustí, Antonia, additional, Pérez-Ingidua, Carla, additional, Gómez de la Cámara, Agustín, additional, Arribas, José Ramón, additional, Ochando, Jordi, additional, Alcamí, José, additional, Belda-Iniesta, Cristóbal, additional, Frías, Jesús, additional, Martínez de Soto, Lucía, additional, Rodríguez Mariblanca, Amelia, additional, Díaz García, Lucía, additional, Ramírez García, Elena, additional, Seco Meseguer, Enrique, additional, Stewart Balbás, Stefan Mark, additional, Marín Candón, Alicia, additional, García García, Irene, additional, Urroz Elizalde, Mikel, additional, Monserrat Villatoro, Jaime, additional, de la Rosa, Paula, additional, Sanz García, Marta, additional, López Crespo, Cristina, additional, Mauleón Martínez, Vega, additional, de Madariaga Castell, Raquel, additional, Vitón Vara, Laura, additional, García Rodríguez, Julio, additional, Buño, Antonio, additional, López Granados, Eduardo, additional, Cámara, Carmen, additional, Rey Cuevas, Esther, additional, Ayllon García, Pilar, additional, Jiménez González, María, additional, Hernández Rubio, Victoria, additional, Moraga Alapont, Paloma, additional, Sánchez, Amparo, additional, Prieto, Rocío, additional, Llorente Gómez, Silvia, additional, Miragall Roig, Cristina, additional, Aparicio Marlasca, Marina, additional, de la Calle, Fernando, additional, Arsuaga, Marta, additional, Duque, Blanca, additional, Meijide, Susana, additional, García de Vicuña, Aitor, additional, Santorcuato, Ana, additional, Expósito, Iraide, additional, de Benito, Sara, additional, Andia, Joseba, additional, Castillo, Cristina, additional, Irurzun, Esther, additional, Camino, Jesús, additional, Temprano, Mikel, additional, Goikoetxea, Josune, additional, Bustinza, Alazne, additional, Larrea, Maialen, additional, Gallego, Mikel, additional, García-Vázquez, Dolores, additional, de la Hoz, Ana Belén, additional, Pérez-Nanclares, Gustavo, additional, Pérez-Guzmán, Estíbaliz, additional, Idoyaga, Eneko, additional, Lamela, Adriana, additional, Oteo, Jesús, additional, Castillo de la Osa, María, additional, Hernández Gutiérrez, Lourdes, additional, Andrés Galván, María Elena, additional, Calonge, Esther, additional, Bermejo, Mercedes, additional, de la Torre-Tarazona, Erick Humberto, additional, Cascajero, Almudena, additional, Fedele, Giovanni, additional, Perea, Concepción, additional, Cervera, Isabel, additional, Bodega-Mayor, Irene, additional, Montes-Casado, María, additional, Portolés, Pilar, additional, Baranda, Jana, additional, Granés, Laura, additional, Lazaar, Sulayman, additional, Herranz, Sara, additional, Mellado, María Eugènia, additional, Tortajada, Marta, additional, Malet, Montserrat, additional, Quesada, Sebastiana, additional, Vilella, Anna, additional, Llupià, Anna, additional, Olivé, Victoria, additional, Trilla, Antoni, additional, Gómez, Begoña, additional, González, Elisenda, additional, Romero, Sheila, additional, Gámez, Francisco Javier, additional, Casals, Cristina, additional, Burunat, Laura, additional, Castelló, Juan José, additional, Fernández, Patricia, additional, Bedini, Josep Lluís, additional, Vila, Jordi, additional, Aguilar, Carla, additional, Altadill, Carmen, additional, Armadans, Lluis, additional, Borras-Bermejo, Blanca, additional, Calonge, Julia, additional, Camacho, Lina, additional, Feliu, Anna, additional, Gili, Gisela, additional, Llorente, Cesar, additional, Martínez-Gómez, Xavier, additional, Otero-Romero, Susana, additional, Palacio, Esther, additional, Parés, Oleguer, additional, Pinós, Laia, additional, Plaza, Aitana, additional, Riera-Arnau, Judit, additional, Rodrigo-Pendás, José Angel, additional, Sans, Carla, additional, Santos, José, additional, Torres, Gloria, additional, Torrens, Margarita, additional, Uriona, Sonia, additional, Ballarin Alins, Elena, additional, Pérez Esquirol, Eulàlia, additional, Vendrell Bosch, Lourdes, additional, Laredo Velasco, Leonor, additional, Uribe López, Diana, additional, González Rojano, Esperanza, additional, Sánchez-Craviotto, Manuel, additional, Rivas Paterna, Ana Belén, additional, Hernán-Gómez, Teresa Iglesias, additional, Rodríguez Galán, Natalia, additional, Gil Marín, José Antonio, additional, Álvarez-Morales, Verónica, additional, Navalpotro, Ana Belén, additional, Jiménez-Santamaría, M Dolores, additional, Cardós, M Carmen, additional, Hermoso, Elena, additional, García-Arenillas, Mar, additional, Pérez Macías, Natalia, additional, Domingo Fernández, Alexandra, additional, López Picado, Amanda, additional, Quiñones, Jorge Mario, additional, Deidda, Nicoletta, additional, García-Franco, Ana, additional, and Torvisco, José María, additional
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- 2021
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5. Five Patients with Disorders of Calcium Metabolism Presented with GCM2 Gene Variants
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Medicina, Pediatría, Medikuntza, Pediatria, García Castaño, Alejandro, Madariaga Domínguez, Leire, Gómez Conde, Sara, Rey Cordo, Carmen Lourdes, López Iglesias, María, García Fernández, Yolanda, Martín Nieto, Alicia, González, Pedro, Goicolea, Ignacio, Pérez de Nanclares, Gustavo, De la Hoz, Ana Belén, Aguayo Calcena, Aníbal, Martínez de la Piscina Martín, Idoia, Martínez Salazar, Rosa, Saso Jiménez, Laura, Urrutia, Inés, Velasco, Olaia, Castaño González, Luis Antonio, Gaztambide Sáenz, María Sonia, Medicina, Pediatría, Medikuntza, Pediatria, García Castaño, Alejandro, Madariaga Domínguez, Leire, Gómez Conde, Sara, Rey Cordo, Carmen Lourdes, López Iglesias, María, García Fernández, Yolanda, Martín Nieto, Alicia, González, Pedro, Goicolea, Ignacio, Pérez de Nanclares, Gustavo, De la Hoz, Ana Belén, Aguayo Calcena, Aníbal, Martínez de la Piscina Martín, Idoia, Martínez Salazar, Rosa, Saso Jiménez, Laura, Urrutia, Inés, Velasco, Olaia, Castaño González, Luis Antonio, and Gaztambide Sáenz, María Sonia
- Abstract
The GCM2 gene encodes a transcription factor predominantly expressed in parathyroid cells that is known to be critical for development, proliferation and maintenance of the parathyroid cells. A cohort of 127 Spanish patients with a disorder of calcium metabolism were screened for mutations by Next-Generation Sequencing (NGS). A targeted panel for disorders of calcium and phosphorus metabolism was designed to include 65 genes associated with these disorders. We observed two variants of uncertain significance (p.(Ser487Phe) and p.Asn315Asp), one likely pathogenic (p.Val382Met) and one benign variant (p.Ala393_Gln395dup) in the GCM2 gene in the heterozygous state in five families (two index cases had hypocalcemia and hypoparathyroidism, respectively, and three index cases had primary hyperparathyroidism). Our study shows the utility of NGS in unravelling the genetic origin of some disorders of the calcium and phosphorus metabolism, and confirms the GCM2 gene as an important element for the maintenance of calcium homeostasis. Importantly, a novel variant in the GCM2 gene (p.(Ser487Phe)) has been found in a patient with hypocalcemia.
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- 2021
6. Murine double minute 2 regulates Hu antigen R stability in human liver and colon cancer through NEDDylation
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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., and Martínez-Chantar, María L.
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- 2012
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7. Novel variant in the CNNM2 gene associated with dominant hypomagnesemia
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García-Castaño, Alejandro, primary, Madariaga, Leire, additional, Antón-Gamero, Montserrat, additional, Mejia, Natalia, additional, Ponce, Jenny, additional, Gómez-Conde, Sara, additional, Pérez de Nanclares, Gustavo, additional, De la Hoz, Ana Belén, additional, Martínez, Rosa, additional, Saso, Laura, additional, Martínez de LaPiscina, Idoia, additional, Urrutia, Inés, additional, Velasco, Olaia, additional, Aguayo, Aníbal, additional, Castaño, Luis, additional, and Gaztambide, Sonia, additional
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- 2020
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8. Effect of AGG Interruptions on FMR1 Maternal Transmissions
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Villate, Olatz, primary, Ibarluzea, Nekane, additional, Maortua, Hiart, additional, de la Hoz, Ana Belén, additional, Rodriguez-Revenga, Laia, additional, Izquierdo-Álvarez, Silvia, additional, and Tejada, María Isabel, additional
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- 2020
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9. Novel Variant in the CNNM2 Gene Associated with Dominant Hypomagnesemia
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Medicina, Pediatría, Medikuntza, Pediatria, García Castaño, Alejandro, Madariaga Domínguez, Leire, Antón Gamero, Montserrat, Mejia, Natalia, Ponce, Jenny, Gómez Conde, Sara, Pérez de Nanclares, Gustavo, De la Hoz, Ana Belén, Martínez Salazar, Rosa, Saso Jiménez, Laura, Martínez de la Piscina Martín, Idoia, Urrutia, Inés, Velasco, Olaia, Aguayo Calcena, Aníbal, Castaño González, Luis Antonio, Gaztambide Sáenz, María Sonia, Medicina, Pediatría, Medikuntza, Pediatria, García Castaño, Alejandro, Madariaga Domínguez, Leire, Antón Gamero, Montserrat, Mejia, Natalia, Ponce, Jenny, Gómez Conde, Sara, Pérez de Nanclares, Gustavo, De la Hoz, Ana Belén, Martínez Salazar, Rosa, Saso Jiménez, Laura, Martínez de la Piscina Martín, Idoia, Urrutia, Inés, Velasco, Olaia, Aguayo Calcena, Aníbal, Castaño González, Luis Antonio, and Gaztambide Sáenz, María Sonia
- Abstract
The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-beta-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be involved in maintaining Mg2+ homeostasis. Among these CNNMs, CNNM2 is expressed in the basolateral membrane of the kidney tubules where it is involved in Mg2+ reabsorption. A total of four patients, two of them with a suspected disorder of calcium metabolism, and two patients with a clinical diagnosis of primary tubulopathy were screened for mutations by Next-Generation Sequencing (NGS). We found one novel likely pathogenic variant in the heterozygous state (c.2384C>A; p.(Ser795*)) in theCNNM2gene in a family with a suspected disorder of calcium metabolism. In this family, hypomagnesemia was indirectly discovered. Moreover, we observed three novel variants of uncertain significance in heterozygous state in the other three patients (c.557G>C; p.(Ser186Thr), c.778A>T; p.(Ile260Phe), and c.1003G>A; p.(Asp335Asn)). Our study shows the utility of Next-Generation Sequencing in unravelling the genetic origin of rare diseases. In clinical practice, serum Mg2+ should be determined in calcium and PTH-related disorders.
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- 2020
10. Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability
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Ibarluzea, Nekane, de la Hoz, Ana Belén, Villate, Olatz, Llano, Isabel, Ocio, Intzane, Martí, Itxaso, Guitart, Míriam, Gabau, Elisabeth, Andrade, Fernando, Gener, Blanca, Tejada, María-Isabel, Ibarluzea, Nekane, de la Hoz, Ana Belén, Villate, Olatz, Llano, Isabel, Ocio, Intzane, Martí, Itxaso, Guitart, Míriam, Gabau, Elisabeth, Andrade, Fernando, Gener, Blanca, and Tejada, María-Isabel
- Abstract
X-linked intellectual disability (XLID) is known to contribute up to 10% of intellectual disability (ID) in males and could explain the increased ratio of affected males observed in patients with ID. Over the past decade, next-generation sequencing has clearly stimulated the gene discovery process and has become part of the diagnostic procedure. We have performed targeted next-generation sequencing of 82 XLID genes on 61 non-related male patients with suggestive non-syndromic XLID. These patients were initially referred to the molecular genetics laboratory to exclude Fragile X Syndrome. The cohort includes 47 male patients with suggestive X-linked family history of ID meaning that they had half-brothers or maternal cousins or uncles affected; and 14 male patients with ID and affected brothers whose mothers show skewed X-inactivation. Sequencing data analysis identified 17 candidate variants in 16 patients. Seven families could be re-contacted and variant segregation analysis of the respective eight candidate variants was performed: HUWE1, IQSEC2, MAOA, MED12, PHF8, SLC6A8, SLC9A6, and SYN1. Our results show the utility of targeted next-generation sequencing in unravelling the genetic origin of XLID, especially in retrospective cases. Variant segregation and additional studies like RNA sequencing and biochemical assays also helped in re-evaluating and further classifying the genetic variants found.
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- 2020
11. Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis
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Aguilera-Albesa, Sergio, primary, de la Hoz, Ana Belén, additional, Ibarluzea, Nekane, additional, Ordóñez-Castillo, Andrés R., additional, Busto-Crespo, Olivia, additional, Villate, Olatz, additional, Ibiricu-Yanguas, María Asunción, additional, Yoldi-Petri, María E., additional, García de Gurtubay, Iñaki, additional, Perez de Nanclares, Guiomar, additional, Pereda, Arrate, additional, and Tejada, María Isabel, additional
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- 2020
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12. Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability
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Ibarluzea, Nekane, primary, de la Hoz, Ana Belén, additional, Villate, Olatz, additional, Llano, Isabel, additional, Ocio, Intzane, additional, Martí, Itxaso, additional, Guitart, Miriam, additional, Gabau, Elisabeth, additional, Andrade, Fernando, additional, Gener, Blanca, additional, and Tejada, María-Isabel, additional
- Published
- 2020
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13. Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)
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Tejada, María Isabel, primary, Villate, Olatz, additional, Ibarluzea, Nekane, additional, de la Hoz, Ana Belén, additional, Martínez-Bouzas, Cristina, additional, Beristain, Elena, additional, Martínez, Francisco, additional, Friez, Michael J., additional, Sobrino, Beatriz, additional, and Barros, Francisco, additional
- Published
- 2019
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14. A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism
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Tejada, María-Isabel, primary, Elcoroaristizabal, Xabier, additional, Ibarluzea, Nekane, additional, Botella, María-Pilar, additional, de la Hoz, Ana-Belén, additional, and Ocio, Intzane, additional
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- 2018
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15. 3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases
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de la Hoz, Ana Belén, Maortua, Hiart, García-Rives, Ainhoa, Martínez-González, María Jesús, Ezquerra, Maitane, and Tejada, María-Isabel
- Subjects
Article Subject - Abstract
To date, few cases of 3p proximal interstitial deletions have been reported and the phenotype and genotype correlation is not well understood. Here, we report a new case of a 3p proximal interstitial deletion. The patient is an 11-year-old female with speech and social interaction difficulties, learning disability, and slight facial dysmorphism, but no other major malformations. An 8 Mb de novo interstitial deletion at 3p14.2-p14.1, from position 60.461.316 to 68.515.453, was revealed by means of array comparative genomic hybridization and confirmed using quantitative reverse-transcription polymerase chain reaction assays. This region includes six genes: FEZF2, CADPS, SYNPR, ATXN7, PRICKLE, and MAGI1, that are known to have a role in neurodevelopment. These genes are located on the proximal side of the deletion. We compare our case with previously well-defined patients reported in the literature and databases.
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- 2015
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16. A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism.
- Author
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Tejada, María‐Isabel, Elcoroaristizabal, Xabier, Ibarluzea, Nekane, Botella, María‐Pilar, de la Hoz, Ana‐Belén, and Ocio, Intzane
- Subjects
GENETIC mutation ,GENETIC disorder diagnosis ,AUTISM spectrum disorders ,AUTISM risk factors ,GENETICS of autism ,DIAGNOSIS of autism - Abstract
The article offers information on study of nonsense homozygous variant in a pair of monozygotic twin brothers with intellectual disability and autism. Topics discussed include neuroligines three (NLGN3) and four (NLGN4) were first identified as risk genes for autism spectrum disorder (ASD); identification of nonsense homozygous variant in the NLGN1 gene in petient; and phenotypic and genotypic study of patients.
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- 2019
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17. Genetic profile of a large Spanish cohort with hypercalcemia.
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García-Castaño A, Madariaga L, Gómez-Conde S, González P, Grau G, Rica I, de Nanclares GP, De la Hoz AB, Aguayo A, Martínez R, Urrutia I, Gaztambide S, and Castaño L
- Subjects
- Infant, Newborn, Humans, Calcium, Genetic Profile, Mutation, Hypercalcemia genetics, Hypercalcemia diagnosis, Hyperparathyroidism genetics
- Abstract
Introduction: The disorders in the metabolism of calcium can present with manifestations that strongly suggest their diagnosis; however, most of the time, the symptoms with which they are expressed are nonspecific or present only as a laboratory finding, usually hypercalcemia. Because many of these disorders have a genetic etiology, in the present study, we sequenced a selection of 55 genes encoding the principal proteins involved in the regulation of calcium metabolism., Methods: A cohort of 79 patients with hypercalcemia were analyzed by next-generation sequencing., Results: The 30% of our cohort presented one pathogenic or likely pathogenic variant in genes associated with hypercalcemia. We confirmed the clinical diagnosis of 17 patients with hypocalciuric hypercalcemia (pathogenic or likely pathogenic variants in the CASR and AP2S1 genes), one patient with neonatal hyperparathyroidism (homozygous pathogenic variant in the CASR gene), and another patient with infantile hypercalcemia (two pathogenic variants in compound heterozygous state in the CYP24A1 gene). However, we also found variants in genes associated with primary hyperparathyroidism ( GCM2 ), renal hypophosphatemia with or without rickets ( SLC34A1 , SLC34A3 , SLC9A3R1 , VDR , and CYP27B1 ), DiGeorge syndrome ( TBX1 and NEBL ), and hypophosphatasia ( ALPL ). Our genetic study revealed 11 novel variants., Conclusions: Our study demonstrates the importance of genetic analysis through massive sequencing to obtain a clinical diagnosis of certainty. The identification of patients with a genetic cause is important for the appropriate treatment and identification of family members at risk of the disease., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 García-Castaño, Madariaga, Gómez-Conde, González, Grau, Rica, de Nanclares, De la Hoz, Aguayo, Martínez, Urrutia, Gaztambide, Calcium Phosphorus Metabolism Molecular Biology Group and Castaño.)
- Published
- 2024
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