Search Results - "Sánchez Del Pozo, J"

Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development by Audi, L, Fernández-Cancio, M, Carrascosa, A, Andaluz, P, Torán, N, Piró, C, Vilaró, E, Vicens-Calvet, E, Gussinyé, M, Albisu, M. A, Yeste, D, Clemente, M, Hernández de la Calle, I, Del Campo, M, Vendrell, T, Blanco, A, Martínez-Mora, J, Granada, M. L, Salinas, I, Forn, J, Calaf, J, Angerri, O, Martínez-Sopena, M. J, del Valle, J, García, E, Gracia-Bouthelier, R, Lapunzina, P, Mayayo, E, Labarta, J. I, Lledó, G, Sánchez del Pozo, J, Arroyo, J, Pérez-Aytes, A, Beneyto, M, Segura, A, Borrás, V, Gabau, E, Caimarí, M, Rodríguez, A, Martínez-Aedo, M. J, Carrera, M, Castaño, L, Andrade, M, Bermúdez de la Vega, J. A

“…Background: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of…”
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Aplicaciones de control predictivo en plantas solares CCP by Gallego Len, Antonio J., Sánchez del Pozo, Adolfo J., F. Camacho, Eduardo

“…Uno de los principales métodos para mejorar la eficiencia en el uso y aprovechamiento de la energía solar es la aplicación de técnicas avanzadas de control. En…”
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Congenital disorder of glycosylation (CDG) type Ie. A new patient by García‐Silva, M. T., Matthijs, G., Schollen, E., Cabrera, J. C., Pozo, J. Sanchez, Herreros, M. Martí, Simón, R., Maties, M., Hernández, E. Martín, Hennet, T., Briones, P.

“…CDG Ie is caused by a deficiency of dolichol‐phosphate‐mannose synthase 1 (DPM1), an enzyme involved in N‐glycan assembly in the endoplasmic reticulum. Three…”
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Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome by Laugel, V, Dalloz, C, Durand, M, Sauvanaud, F, Kristensen, U, Vincent, M.C, Pasquier, L, Odent, S, Cormier-Daire, V, Gener, B, Tobias, E.S, Tolmie, J.L, Martin-Coignard, D, Drouin-Garraud, V, Heron, D, Journel, H, Raffo, E, Vigneron, J, Lyonnet, S, Murday, V, Gubser-Mercati, D, Funalot, B, Brueton, L, Sanchez del Pozo, J, Muñoz, E, Gennery, A.R, Salih, M, Noruzinia, M, Prescott, K, Ramos, L, Stark, Z, Fieggen, K, Chabrol, B, Sarda, P, Edery, P, Bloch-Zupan, A, Fawcett, H, Pham, D, Egly, J.M, Lehmann, A.R, Sarasin, A, Dollfus, H

“…Cockayne syndrome is an autosomal recessive multisystem disorder characterized principally by neurological and sensory impairment, cachectic dwarfism, and…”
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Nonlinear MPC for Thermal Balancing of the TCP-100 Parabolic Trough Collectors Solar Plant by Gallego, Antonio J., Yebra, Luis J., Del Pozo, Adolfo J. Sanchez, Escano, Juan M., Camacho, Eduardo. F.

“…The efficiency of the solar plants is conditioned by the control strategies applied in their operation. In this paper, an application of a Model Predictive…”
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Déficit del cofactor molibdeno como causa de encefalopatía epiléptica precoz by Palacios Cuesta, A, García Silva, M.T, Sánchez del Pozo, J, Nogales Espert, A, Puche Mira, A, Ugarte Pérez, M

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Osteopetrosis autosómica dominante: a propósito de 3 casos y una mutación by Janer Subías, E, de Arriba Muñoz, A, García Iñiguez, J.P, Ferrer Lozano, M, Sanchez del Pozo, J, Labarta Aizpun, J.I

“…Resumen La osteopetrosis (OP) es una rara enfermedad ósea congénita producida por una alteración funcional en los osteoclastos con incapacidad para la…”
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Exon 3-Deleted/Full-Length Growth Hormone Receptor Polymorphism Genotype Frequencies in Spanish Short Small-for-Gestational-Age (SGA) Children and Adolescents (n = 247) and in an Adult Control Population (n = 289) Show Increased fl/fl in Short SGA by Audí, Laura, Esteban, Cristina, Carrascosa, Antonio, Espadero, Rosa, Pérez-Arroyo, Annalisa, Arjona, Rosa, Clemente, María, Wollmann, Hartmut, Fryklund, Linda, Parodi, Luis A.

“…Context: A polymorphism in the human GH receptor gene (d3/fl-GHR) resulting in genomic deletion of exon 3 has been associated with the degree of height…”
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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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The exon 3-deleted/full-length Growth Hormone Receptor Polymorphism Does Not Influence the Effect of Puberty or Growth Hormone Therapy on Glucose Homeostasis in Short Non-Growth Hormone-Deficient Small-for-Gestational-Age Children: Results from a Two-Year Controlled Prospective Study by Audí, L., Carrascosa, A., Esteban, C., Fernández-Cancio, M., Andaluz, P., Yeste, D., Espadero, R., Granada, M. L., Wollmann, H., Fryklund, L.

“…Context: The exon 3-deleted/full-length (d3/fl) GH receptor polymorphism (d3/fl-GHR) has been associated with responsiveness to GH therapy in short…”
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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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Alteraciones de los genes de la vía RAS-MAPK en 200 pacientes españoles con síndrome de Noonan y otros síndromes neurocardiofaciocutáneos. Genotipo y cardiopatía by 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

“…Resumen Introducción y objetivos La caracterización molecular de cardiopatías incluye una entidad congénita no infrecuente, el síndrome de Noonan. Presentamos…”
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Detection of Hypomethylation Syndrome among Patients with Epigenetic Alterations at the GNAS Locus by Perez-Nanclares, Gustavo, Romanelli, Valeria, Mayo, Sonia, Garin, Intza, Zazo, Celia, Fernandez-Rebollo, Eduardo, Martínez, Francisco, Lapunzina, Pablo, de Nanclares, Guiomar Pérez, the Spanish PHP Group

“…Context: Genomic imprinting is the modification of the genome so that genes from only one (rather than two) of the parental alleles are expressed. The…”
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Molybdenum cofactor deficiency as a cause of early epileptic encephalopathy by Palacios Cuesta, A, García Silva, M T, Sánchez Del Pozo, J, Nogales Espert, A, Puche Mira, A, Ugarte Pérez, M

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What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis by Pereda, Arrate, Garin, Intza, Perez de Nanclares, Guiomar

“…Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may…”
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Autosomal dominant osteopetrosis: a presentation of 3 cases and a new gene mutation by Janer Subías, E, de Arriba Muñoz, A, García Iñiguez, J P, Ferrer Lozano, M, Sanchez Del Pozo, J, Labarta Aizpun, J I

“…Osteopetrosis (OP) is a congenital bone disease which is caused by a functional disorder in osteoclasts with inability for normal bone resorption, leading to…”
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Diabetes neonatal permanente asociada a hipotiroidismo, sordera y rasgos dismórficos by Giralt Muiña, P., Sánchez del Pozo, J., Anaya Barea, F., García Silva, M.aT, Lledó Valera, G., Rosa García, A.

“…La diabetes mellitus neonatal se define como una hiperglucemia detectada durante el primer mes de vida, de más de 2 semanas de duración, que precisa…”
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Displasia ectodérmica hipohidrótica: una causa de fiebre de origen desconocido by Segurado Rodríguez, M.aA, Ortiz de Frutos, F.J, Cornejo Navarro, P., Guerra Tapia, A., Iglesias Díez, L., Rodríguez Peralto, J.L., Sánchez del Pozo, J.

“…Bajo el término de displasia ectodérmica se agrupa una gran variedad de cuadros clínicos que comparten unos rasgos comunes como la afectación de uno o varios…”
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Permanent neonatal diabetes associated with other anomalies by Giralt Muiña, P, Sánchez Del Pozo, J, Anaya Barea, F, García Silva, M, Lledó Valera, G, Rosa García, A

“…Neonatal diabetes mellitus is defined as hyperglycemia detected in the first month of life of more than 2 weeks' duration, requiring insulin treatment. It is…”
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Hypohidrotic ectodermal dysplasia: A cause of fever of unknown origin by Segurado Rodríguez, M A, Ortiz De Frutos, F J, Cornejo Navarro, P, Rodríguez Peralto, J L, Sánchez Del Pozo, J, Guerra Tapia, A, Iglesias Díez, L

“…The term ectodermal dysplasias includes many disorders that share some clinical features such as involvement of one or several ectodermal structures and…”
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