Search Results - "del Pozo, Jaime Sánchez"

Tumor-induced rickets in a child with a central giant cell granuloma: a case report by Fernández-Cooke, Elisa, Cruz-Rojo, Jaime, Gallego, Carmen, Romance, Ana Isabel, Mosqueda-Peña, Rocio, Almaden, Yolanda, Sánchez del Pozo, Jaime

“…Tumor-induced osteomalacia/rickets is a rare paraneoplastic disorder associated with a tumor-producing fibroblast growth factor 23 (FGF23). We present a child…”
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A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24 by Rodríguez‐García, María Elena, Cotrina‐Vinagre, Francisco Javier, Cruz‐Rojo, Jaime, Garzón‐Lorenzo, Lucía, Carnicero‐Rodríguez, Patricia, Pozo, Jaime Sánchez‐Del, Martínez‐Azorín, Francisco

“…We report the clinical and genetic findings in a 15‐year‐old Spanish boy presenting prenatal and postnatal growth retardation, reduced subcutaneous adipose…”
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Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency by 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

“…Abstract Context: Autosomal-recessive mutations in the growth hormone receptor (GHR) are the most common causes for primary growth hormone insensitivity (GHI)…”
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Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling by 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

“…Nucleotide excision repair associated diseases comprise overlapping phenotypes and a wide range of outcomes. The early stages still remain under‐investigated…”
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Buccal Anomalies, Cephalometric Analysis and Genetic Study of Two Sisters with Orofaciodigital Syndrome Type I by Romero, Martín, Franco, Brunella, del Pozo, Jaime Sánchez, Romance, Ana

“…Orofaciodigital syndromes have many clinical and cephalometric anomalies, including facial irregularities, oral cavity abnormalities, and malformations of…”
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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

“…Allan-Herndon-Dudley is an X-linked recessive syndrome caused by pathogenic variants in the SLC16A2 gene. Clinical manifestations are a consequence of impaired…”
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A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome by 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

“…We report a novel GLI2 frameshift mutation and describe the phenotypic spectrum of mutations within this gene. A male with congenital hypopituitarism and…”
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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice by 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

“…Pathogenic variants in , a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM…”
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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 by Labarta, José I, Moreno, Maria L, López-Siguero, Juan P, Luzuriaga, Cristina, Rica, Itxaso, Sánchez-del Pozo, Jaime, Gracia-Bouthelier, Ricardo

“…ContextOestrogen induction of pubertal changes in Turner girls may reinforce their psychological well-being and may also optimise final height; however,…”
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Neonato con genitales ambiguos: ¿disgenesia gonadal mixta? by Oviedo-Melgares, Lidia, Soriano-Ramos, María, Sánchez del Pozo, Jaime, Vázquez-Román, Sara

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Hipoglucemia como comienzo inusual de un tumor hepático by Rubio-San-Simón, Alba, Román Mendoza, Nelly, Nova Lozano, Cristina, Sánchez del Pozo, Jaime, Guerra García, Pilar

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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome by 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

“…Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and…”
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Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants by 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

“…Craniosynostosis, caused by the premature fusion of one or more of the cranial sutures, can be classified into non-syndromic or syndromic and by which sutures…”
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Panel Discussion: Some Aspects of the Management of Patients with X-Linked Hypophosphataemic Rickets by Torregrosa, José-Vicente, Sánchez del Pozo, Jaime, Luiz Yanes, María Isabel, Muñoz Torres, Manuel

“…X-linked hypophosphataemia (XLH) rickets is a rare disease frequently misdiagnosed and mismanaged. Despite having clinical guidelines that offers some…”
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The p.R56 mutation in PTHLH causes variable brachydactyly type E by Pereda, Arrate, Garzon‐Lorenzo, Lucia, Garin, Intza, Cruz‐Rojo, Jaime, Sanchez del Pozo, Jaime, Perez de Nanclares, Guiomar

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Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study by 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

“…Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to…”
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New dental findings in the median cleft facial syndrome by Haro Montero, Manuela M, Romero Maroto, Martin, Bravo Gonzalez, Luis Alberto, Sanchez del Pozo, Jaime

“…The main features of median cleft facial syndrome are hypertelorism, cranium bifidum occultum, widow's peak, and midine clefting of the nose, upper lip and…”
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Correction to: Panel Discussion: Some Aspects of the Management of Patients with X-Linked Hypophosphataemic Rickets by Torregrosa, José-Vicente, Sánchez del Pozo, Jaime, Luiz Yanes, María Isabel, Muñoz Torres, Manuel

“…In the original article, there is an error in age related reference…”
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Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature by Rivera-Pedroza, Carlos I., Barraza-García, Jimena, Paumard-Hernández, Beatriz, Nevado, Julian, Orbea-Gallardo, Carlos, Sánchez del Pozo, Jaime, Heath, Karen E.

“…Interstitial deletions in the short arm of chromosome 1 are infrequent. We report a female with a 1p31.1p31.3 deletion and cloverleaf skull, who presented with…”
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Correction to: Panel Discussion: Some Aspects of the Management of Patients with X-Linked Hypophosphataemic Rickets by Torregrosa, José-Vicente, Sánchez del Pozo, Jaime, Luis Yanes, María Isabel, Muñoz Torres, Manuel

“…In the original article, third author name has been published incorrectly…”
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