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)
Get full text
Journal Article
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)
Get more information
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants
Paumard-Hernández, Beatriz, Berges-Soria, Julia, Barroso, Eva, Rivera-Pedroza, Carlos I, Pérez-Carrizosa, Virginia, Benito-Sanz, Sara, López-Messa, Eva, Santos, Fernando, García-Recuero, Ignacio I, Romance, Ana, Ballesta-Martínez, Juliana María, López-González, Vanesa, Campos-Barros, Ángel, Cruz, Jaime, Guillén-Navarro, Encarna, Sánchez Del Pozo, Jaime, Lapunzina, Pablo, García-Miñaur, Sixto, Heath, Karen E
Published in European journal of human genetics : EJHG (01.07.2015)
Published in European journal of human genetics : EJHG (01.07.2015)
Get full text
Journal Article
Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study
García Castaño, Alejandro, Pérez de Nanclares, Gustavo, Madariaga, Leire, Aguirre, Mireia, Chocron, Sara, Madrid, Alvaro, Lafita Tejedor, Francisco Javier, Gil Campos, Mercedes, Sánchez del Pozo, Jaime, Ruiz Cano, Rafael, Espino, Mar, Gomez Vida, Jose Maria, Santos, Fernando, García Nieto, Victor Manuel, Loza, Reyner, Rodríguez, Luis Miguel, Hidalgo Barquero, Emilia, Printza, Nikoleta, Camacho, Juan Antonio, Castaño, Luis, Ariceta, Gema
Published in European journal of pediatrics (01.10.2015)
Published in European journal of pediatrics (01.10.2015)
Get full text
Journal Article
Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature
Rivera-Pedroza, Carlos I., Barraza-García, Jimena, Paumard-Hernández, Beatriz, Nevado, Julian, Orbea-Gallardo, Carlos, Sánchez del Pozo, Jaime, Heath, Karen E.
Published in Molecular syndromology (01.01.2017)
Published in Molecular syndromology (01.01.2017)
Get full text
Journal Article
Alterations in RAS-MAPK Genes in 200 Spanish Patients With Noonan and Other Neuro-Cardio-Facio-Cutaneous Syndromes. Genotype and Cardiopathy
Ezquieta, Begoña, Santomé, José L., Carcavilla, Atilano, Guillén-Navarro, Encarna, Pérez-Aytés, Antonio, Sánchez del Pozo, Jaime, García-Miñaur, Sixto, Castillo, Emilia, Alonso, Milagros, Vendrell, Teresa, Santana, Alfredo, Maroto, Enrique, Galbis, Liliana
Published in Revista española de cardiología (English ed.) (01.05.2012)
Published in Revista española de cardiología (English ed.) (01.05.2012)
Get full text
Journal Article
Clinical characterization of a girl with trisomy 20q13.2qter and monosomy 13q33.1qter: Delineating phenotype-genotype correlations
Belar, Oihana, del Pozo, Jaime Sanchez, Moreno-García, Marta, Cruz-Rojo, Jaime, Garin, Intza, de Nanclares, Guiomar Perez
Published in American journal of medical genetics. Part A (01.11.2010)
Published in American journal of medical genetics. Part A (01.11.2010)
Get full text
Journal Article
Moebius-Poland syndrome and hypogonadotropic hypogonadism
DE LARA, Diego Lopez, CRUZ-ROJO, Jaime, SANCHEZ DEL POZO, Jaime, ELENA GALLEGO GOMEZ, Maria, LLEDO VALERA, Gregorio
Published in European journal of pediatrics (01.03.2008)
Published in European journal of pediatrics (01.03.2008)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Sheppard, Sarah E, Bryant, Laura, Wickramasekara, Rochelle N, Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, 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, Pellegrino Da Silva, Renata, Li, Dong, 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, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, Jr, John M, Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F, Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik-Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, 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, Guerrini, Renzo, Lespinasse, James, Tran Mau-Them, Frédéric, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M, Tan, Tiong Yang
Published in Science advances (10.03.2023)
Published in Science advances (10.03.2023)
Get full text
Journal Article