Tumor-induced rickets in a child with a central giant cell granuloma: a case report
Fernández-Cooke, Elisa, Cruz-Rojo, Jaime, Gallego, Carmen, Romance, Ana Isabel, Mosqueda-Peña, Rocio, Almaden, Yolanda, Sánchez del Pozo, Jaime
Published in Pediatrics (Evanston) (01.06.2015)
Published in Pediatrics (Evanston) (01.06.2015)
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A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24
Rodríguez‐García, María Elena, Cotrina‐Vinagre, Francisco Javier, Cruz‐Rojo, Jaime, Garzón‐Lorenzo, Lucía, Carnicero‐Rodríguez, Patricia, Pozo, Jaime Sánchez‐Del, Martínez‐Azorín, Francisco
Published in American journal of medical genetics. Part A (01.11.2018)
Published in American journal of medical genetics. Part A (01.11.2018)
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Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency
Vairamani, Kanimozhi, Merjaneh, Lina, Casano-Sancho, Paula, Sanli, Merve Emecen, David, Alessia, Metherell, Louise A., Savage, Martin O., Sánchez del Pozo, Jaime, Backeljauw, Philippe F., Rosenfeld, Ron G., Aisenberg, Javier, Dauber, Andrew, Hwa, Vivian
Published in Journal of the Endocrine Society (01.04.2017)
Published in Journal of the Endocrine Society (01.04.2017)
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Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
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 (01.06.2024)
Published in Pediatric neurology (01.06.2024)
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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Sheppard, Sarah E, Wickramasekara, Rochelle N, Vaccaro, Courtney, Robertson, Brynn, Hulen, Jason, Watson, Cynthia J, Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Simon, M Celeste, de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, March, Michael, Diaz-Rosado, Abdias, Peixoto de Barcelos, Isabella, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Hing, Anne, Graham, Jr, John M, Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Tifft, Cynthia, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Brewer, Carole, Saggar, Anand, Smeland, Marie F, Kumar, Ajith, Elmslie, Frances, Cogne, Benjamin, Wilke, Martina, Koudijs, Suzanne, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik-Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Ranguin, Kara, Denommé-Pichon, Anne-Sophie, Weber, Sacha, Pérez de la Fuente, Rubén, Sánchez Del Pozo, Jaime, Lezana Rosales, Jose Miguel, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Lespinasse, James, Tran Mau-Them, Frédéric, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G, Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J, Kuechler, Alma, Busk, Øyvind L, Islam, Lily, Siedlik, Jacob A, Henderson, Lindsay B, Juusola, Jane, Person, Richard, Schnur, Rhonda E, Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J, Stessman, Holly A F
Published in Science advances (10.03.2023)
Published in Science advances (10.03.2023)
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Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling
Baer, Sarah, Obringer, Cathy, Julia, Sophie, Chelly, Jameleddine, Capri, Yline, Gras, Domitille, Baujat, Geneviève, Felix, Têmis Maria, Doray, Berenice, Sanchez del Pozo, Jaime, Ramos, Lina M., Burglen, Lydie, Laugel, Vincent, Calmels, Nadège
Published in Clinical genetics (01.09.2020)
Published in Clinical genetics (01.09.2020)
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A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome
Martín-Rivada, Álvaro, Rodríguez-Contreras, Francisco Javier, Muñoz-Calvo, Mª. Teresa, Güemes, María, González-Casado, Isabel, del Pozo, Jaime Sánchez, Campos-Barros, Ángel, Argente, Jesús
Published in Growth hormone & IGF research (01.02.2019)
Published in Growth hormone & IGF research (01.02.2019)
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Journal Article
LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy
Carcavilla, Atilano, Santomé, José L., Pinto, Isabel, Sánchez-Pozo, Jaime, Guillén-Navarro, Encarna, Martín-Frías, María, Lapunzina, Pablo, Ezquieta, Begoña
Published in Revista española de cardiología (English ed.) (01.05.2013)
Published in Revista española de cardiología (English ed.) (01.05.2013)
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First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center
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 (01.10.2021)
Published in Neurogenetics (01.10.2021)
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Individualised vs fixed dose of oral 17β-oestradiol for induction of puberty in girls with Turner syndrome: an open-randomised parallel trial
Labarta, José I, Moreno, Maria L, López-Siguero, Juan P, Luzuriaga, Cristina, Rica, Itxaso, Sánchez-del Pozo, Jaime, Gracia-Bouthelier, Ricardo
Published in European journal of endocrinology (01.10.2012)
Published in European journal of endocrinology (01.10.2012)
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Neonato con genitales ambiguos: ¿disgenesia gonadal mixta?
Oviedo-Melgares, Lidia, Soriano-Ramos, María, Sánchez del Pozo, Jaime, Vázquez-Román, Sara
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.09.2019)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.09.2019)
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Coexistence of dyschondrosteosis associated to SHOX deficiency, pseudohypoparathyroidism 1B, and chronic autoimmune thyroiditis: a case report
Marin, Fernando, Jodar, Esteban, Sánchez del Pozo, Jaime
Published in Journal of Pediatric Endocrinology & Metabolism (27.04.2021)
Published in Journal of Pediatric Endocrinology & Metabolism (27.04.2021)
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Array-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review
Moreno-García, Marta, Sánchez del Pozo, Jaime, Cruz-Rojo, Jaime, Fernández-Martínez, Francisco Javier, Perez-Nanclares Leal, Guiomar
Published in Clinical dysmorphology (01.07.2012)
Published in Clinical dysmorphology (01.07.2012)
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EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population
Martínez-Romero, María Carmen, Ballesta-Martínez, María Juliana, López-González, Vanesa, Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, Barreda-Sánchez, María, Rodriguez-Peña, Lidya, Martínez-Menchon, María Teresa, Frías-Iniesta, José, Sánchez-Pedreño, Paloma, Carbonell-Meseguer, Pablo, Glover-López, Guillermo, Guillén-Navarro, Encarna
Published in Orphanet journal of rare diseases (03.12.2019)
Published in Orphanet journal of rare diseases (03.12.2019)
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Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
Parra, Alejandro, Pascual, Patricia, Cazalla, Mario, Arias, Pedro, Gallego-Zazo, Natalia, San-Martín, Esteban A, Silván, Cristina, Santos-Simarro, Fernando, Nevado, Julián, Tenorio-Castano, Jair, Lapunzina, Pablo
Published in Clinical genetics (01.02.2024)
Published in Clinical genetics (01.02.2024)
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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients
Tenorio, Jair, Alarcón, Pablo, Arias, Pedro, Dapía, Irene, García-Miñaur, Sixto, Palomares Bralo, María, Campistol, Jaume, Climent, Salvador, Valenzuela, Irene, Ramos, Sergio, Monseny, Antonio Martínez, Grondona, Fermina López, Botet, Javier, Serrano, Mercedes, Solís, Mario, Santos-Simarro, Fernando, Álvarez, Sara, Teixidó-Tura, Gisela, Fernández Jaén, Alberto, Gordo, Gema, Bardón Rivera, María Belén, Nevado, Julián, Hernández, Alicia, Cigudosa, Juan C, Ruiz-Pérez, Víctor L, Tizzano, Eduardo F, Lapunzina, Pablo
Published in European journal of human genetics : EJHG (01.04.2020)
Published in European journal of human genetics : EJHG (01.04.2020)
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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
CARMIGNAC, Virginie, THEVENON, Julien, RENARD, Marjolijn, PLAUCHU, Henri, PLESSIS, Ghislaine, DE BACKER, Julie, CHILD, Anne, ARNO, Gavin, DUPLOMB, Laurence, CALLIER, Patrick, ARAL, Bernard, VABRES, Pierre, ADES, Lesley, GIGOT, Nadege, ARBUSTINI, Eloisa, GRASSO, Maurizia, ROBINSON, Peter N, GOIZET, Cyril, BAUMANN, Clarisse, DI ROCCO, Maja, DEL POZO, Jaime Sanchez, HUET, Frédéric, JONDEAU, Guillaume, CALLEWAERT, Bert, COLLOD-BEROUD, Gwenaelle, BEROUD, Christophe, AMIEL, Jeanne, CORMIER-DAIRE, Valérie, RIVIERE, Jean-Baptiste, BOILEAU, Catherine, DE PAEPE, Anne, FAIVRE, Laurence, JULIA, Sophie, THAUVIN-ROBINET, Christel, GUENEAU, Lucie, COURCET, Jean-Benoit, LOPEZ, Estelle, HOLMAN, Katherine
Published in American journal of human genetics (02.11.2012)
Published in American journal of human genetics (02.11.2012)
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