Search Results - Quesada-Espinosa, Juan F

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  1. 1
    Two siblings with uncombable hair syndrome: A new pathogenic variant

    Two siblings with uncombable hair syndrome: A new pathogenic variant by Calvo‐Asín, Carlos, Palencia‐Pérez, Sara I., Quesada‐Espinosa, Juan F., Puig‐Buendia, Jose, Cavestany‐Rodríguez, Raquel, Velasco‐Tamariz, Virginia

    Published in Pediatric dermatology
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  2. 2
    TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies

    TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies by Boast, Brigette, Goel, Shubham, González-Granado, Luis I., Niemela, Julie, Stoddard, Jennifer, Edwards, Emily S.J., Seneviratne, Sandali, Spensberger, Dominik, Quesada-Espinosa, Juan F., Allende, Luis M., McDonnell, John, Haseley, Alexandria, Lesmana, Harry, Walkiewicz, Magdalena A., Muhammad, Emad, Bosco, Julian J., Fleisher, Thomas A., Cohen, Shai, Holland, Steven M., van Zelm, Menno C., Enders, Anselm, Kuehn, Hye Sun, Rosenzweig, Sergio D.

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  3. 3
    Alström syndrome: Two clinical cases with two novel pathogenic variants

    Alström syndrome: Two clinical cases with two novel pathogenic variants by Herranz-Heras, Juan C, Barceló, Ana, Quesada-Espinosa, Juan F, Dorado-Lopez-Rosado, Ana M, Tejada-Palacios, Pilar, Muñoz-Gallego, Alicia

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  4. 4
    Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity

    Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity by Segura-Tudela, Alejandro, López-Nevado, Marta, Nieto-López, Celia, García-Jiménez, Sandra, Díaz-Madroñero, María J., Delgado, Ángeles, Cabrera-Marante, Oscar, Pleguezuelo, Daniel, Morales, Pablo, Paz-Artal, Estela, Gil-Niño, Jorge, Marco, Francisco M., Serrano, Cristina, González-Granado, Luis I., Quesada-Espinosa, Juan F., Allende, Luis M.

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  5. 5
    Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

    Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review by Palma-Milla, Carmen, Prat-Planas, Aina, Soengas-Gonda, Emma, Centeno-Pla, Mónica, Sánchez-Pozo, Jaime, Lazaro-Rodriguez, Irene, Quesada-Espinosa, Juan F., Arteche-Lopez, Ana, Olival, Jonathan, Pacio-Miguez, Marta, Palomares-Bralo, María, Santos-Simarro, Fernando, Cancho-Candela, Ramón, Vázquez-López, María, Seidel, Veronica, Martinez-Monseny, Antonio F., Casas-Alba, Didac, Grinberg, Daniel, Balcells, Susanna, Serrano, Mercedes, Rabionet, Raquel, Martin, Miguel A., Urreizti, Roser

    Published in Pediatric neurology
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  6. 6
    Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy

    Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy by López-Nevado, Marta, Ortiz-Martín, Javier, Serrano, Cristina, Pérez-Saez, María A., López-Lorenzo, José L., Gil-Etayo, Francisco J., Rodríguez-Frías, Edgar, Cabrera-Marante, Oscar, Morales-Pérez, Pablo, Rodríguez-Pinilla, María S., Manso, Rebeca, Salgado-Sánchez, Rocío N., Cerdá-Montagud, Ana, Quesada-Espinosa, Juan F., Gómez-Rodríguez, María J., Paz-Artal, Estela, Muñoz-Calleja, Cecilia, Arranz-Sáez, Reyes, Allende, Luis M.

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  7. 7
    Whole Exome Sequencing and Panel-Based Analysis in 176 Spanish Children with Neurodevelopmental Disorders: Focus on Autism Spectrum Disorder and/or Intellectual Disability/Global Developmental Delay

    Whole Exome Sequencing and Panel-Based Analysis in 176 Spanish Children with Neurodevelopmental Disorders: Focus on Autism Spectrum Disorder and/or Intellectual Disability/Global D... by Sánchez Suárez, Ariadna, Martínez Menéndez, Beatriz, Escolar Escamilla, Eduardo, Martínez Sarries, Francisco J, Esparza Garrido, Miren Iranzu, Gil-Fournier, Belén, Ramiro León, Soraya, Rubio Gribble, Bárbara, Quesada Espinosa, Juan F, Alcaraz Romero, Andrés J

    Published in Genes
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  8. 8
    Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma

    Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma by González-Quintana, Adrián, Garrido-Moraga, Rocío, Palencia-Pérez, Sara I, Hernández-Martín, Ángela, Sánchez-Munárriz, Jon, Lezana-Rosales, José M, Quesada-Espinosa, Juan F, Martín, Miguel A, Arteche-López, Ana

    Published in Genes
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  9. 9
    First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center

    First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center by Quesada-Espinosa, Juan F., Garzón-Lorenzo, Lucía, Lezana-Rosales, José M., Gómez-Rodríguez, María J., Sánchez-Calvin, María T., Palma-Milla, Carmen, Gómez-Manjón, Irene, Hidalgo-Mayoral, Irene, Pérez de la Fuente, Rubén, Arteche-López, Ana, Álvarez-Mora, María I., Camacho-Salas, Ana, Cruz-Rojo, Jaime, Lázaro-Rodríguez, Irene, Morales-Conejo, Montserrat, Nuñez-Enamorado, Noemí, Bustamante-Aragones, Ana, Simón de las Heras, Rogelio, Gomez-Cano, María A., Ramos-Gómez, Patricia, Sierra-Tomillo, Ollalla, Juárez-Rufián, Alexandra, Gallego-Merlo, Jesús, Rausell-Sánchez, Laura, Moreno-García, Marta, Sánchez del Pozo, Jaime

    Published in Neurogenetics
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  10. 10
    Clinical and Genetic Analysis of Patients With TK2 Deficiency

    Clinical and Genetic Analysis of Patients With TK2 Deficiency by Ceballos, Francisco, Serrano-Lorenzo, Pablo, Bermejo-Guerrero, Laura, Blázquez, Alberto, Quesada-Espinosa, Juan F, Amigo, Jorge, Minguez, Pablo, Ayuso, Carmen, García-Arumí, Elena, Muelas, Nuria, Jaijo, Teresa, Nascimento, Andres, Galán-Rodriguez, Beatriz, Paradas, Carmen, Arenas, Joaquín, Carracedo, Angel, Martí, Ramon, Martín, Miguel A, Domínguez-González, Cristina

    Published in Neurology. Genetics
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  11. 11
    Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the IPERP/I Gene Associated with Autosomal Recessive Erythrokeratoderma

    Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the IPERP/I Gene Associated with Autosomal Recessive Erythrokeratoderma by González-Quintana, Adrián, Garrido-Moraga, Rocío, Palencia-Pérez, Sara I, Hernández-Martín, Ángela, Sánchez-Munárriz, Jon, Lezana-Rosales, José M, Quesada-Espinosa, Juan F, Martín, Miguel A, Arteche-López, Ana

    Published in Genes
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