Search Results - "Telleria, D."

Overview of the MODARIA programme (and comments on implications for future programmes of work) by Brown, J, Telleria, D, Yankovich, T, Cabianca, T, Halsall, C

“…The International Atomic Energy Agency (IAEA) has organised programmes on the development, comparison and testing of environmental assessment models and…”
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The IAEA handbook on radionuclide transfer to wildlife by Howard, B.J., Beresford, N.A., Copplestone, D., Telleria, D., Proehl, G., Fesenko, S., Jeffree, R.A., Yankovich, T.L., Brown, J.E., Higley, K., Johansen, M.P., Mulye, H., Vandenhove, H., Gashchak, S., Wood, M.D., Takata, H., Andersson, P., Dale, P., Ryan, J., Bollhöfer, A., Doering, C., Barnett, C.L., Wells, C.

“…An IAEA handbook presenting transfer parameter values for wildlife has recently been produced. Concentration ratios (CRwo-media) between the whole organism…”
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Radiological Protection of the Environment and its Implementation into IAEA Safety Standards by Telleria, D., Proehl, G.

“…Radiological protection of the environment has been intensively discussed in recent years. Much progress has been made recently with regard to the development…”
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Use of the ICRP system for the protection of marine ecosystems by Telleria, D., Cabianca, T., Proehl, G., Kliaus, V., Brown, J., Bossio, C., Van der Wolf, J., Bonchuk, I., Nilsen, M.

“…The International Commission on Radiological Protection (ICRP) recently reinforced the international system of radiological protection, initially focused on…”
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Genetic and epigenetic profile of sporadic pheochromocytomas by Cascon, A, Ruiz-Llorente, S, Fraga, M F, Leton, R, Telleria, D, Sastre, J, Jose Diez, J, Martinez Diaz-Guerra, G, Diaz Perez, J A, Benitez, J, Esteller, M, Robledo, M

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SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation by Cascón, A, Cebrián, A, Ruiz-Llorente, S, Tellería, D, Benítez, J, Robledo, M

“…While the SDHD locus is maternally imprinted, SDHB has classical autosomal dominant inheritance. Since Baysal et al 4 first described SDHD mutations as being…”
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Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss by Migliosi, V, Modamio-Høybjør, S, Moreno-Pelayo, M A, Rodríguez-Ballesteros, M, Villamar, M, Tellería, D, Menéndez, I, Moreno, F, del Castillo, I

“…[...]the recent impressive progress in the investigation of genetic deafness has been the result of a research strategy based on the study of large pedigrees…”
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Angiotensin-converting enzyme gene polymorphism and antiproteinuric response to renoprotective therapy by Gonzalo, A, Telleria, D, San Millan, J L, Ortuño, J

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Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients by Cebrián, A, Ruiz-Llorente, S, Cascón, A, Pollán, M, Díez, J J, Picó, A, Tellería, D, Benítez, J, Robledo, M

“…[...]they are probably not MEN1 cases, but instead phenocopies generated by mutations in other genes or by random development of HPT and other MEN1 related…”
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Investigation of the importance of site-specific fauna in environmental risk assessment for routine atmospheric radionuclides releases by Charrasse, B., Anderson, A., Mora, Jc, Smith, J., Ikonen, A., Kangasniemi, V., Zorko, B., Bonchuk, Y., Baumelle, L., Cohenny, E., Gunawardena, N., Amado, V., Carny, P., Liptak, L., Fojcikova, E., Leclerc, E., Telleria, D.

“…Although there is still some development of radiological assessment models for non-human biota and their usage, the International Commission on Radiological…”
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A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment by del Castillo, Francisco J, del Castillo, Ignacio, Villamar, Manuela, Moreno-Pelayo, Miguel A, Álvarez, Araceli, Tellería, Dolores, Menéndez, Ibis, Moreno, Felipe

“…Up to half of patients with congenital autosomal recessive nonsyndromic deafness have mutations in the gene encoding the gap-junction protein connexin 26 (…”
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Dinucleotide repeat polymorphism at the D4S2458 locus close to the PKD2 locus on human chromosome 4q by VIRIBAY, M, TELLERIA, D, VELASCO, E, MORENO, F, SAN MILLAN, J. L

“…A new polymorphic CA repeat sequence was identified within the candidate region for the autosomal dominant polycystic kidney disease-type 2 (PKD2) locus. It…”
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The EUROGEM map of human chromosome 5 by Villamar, M, Gomendio, B, Perera, E, Telleria, D, Fizames, C, San Millan, J L, Weissenbach, J, Schott, J J, Dixon, M, Hollyoake, M

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Screening for mutations in the steroidogenic acute regulatory protein and steroidogenic factor-1 genes, and in CYP11A and dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome, gene-1 (DAX-1), in hyperandrogenic hirsute women by CALVOT, Rosa M, ASUNCION, Miryam, TELLERIA, Dolores, SANCHO, José, SAN MILLAN, José L, ESCOBAR-MORREALE, Héctor F

“…Abstract Abnormalities in adrenal and/or ovarian steroidogenesis are found in most patients with hirsutism. The rate-limiting step in the synthesis of steroids…”
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Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease by Torra, Roser, Viribay, Miguel, Tellería, Dolores, Badenas, Cèlia, Watson, Michael, Harris, Peter, Darnell, Alejandro, Millán, José L. San

“…Seven novel mutations of thePKD2gene in families with autosomal dominant polycystic kidney disease. Autosomal dominant polycystic kidney disease (ADPKD) is…”
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Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma by Cascon, Alberto, Ruiz-Llorente, Sergio, Cebrian, Arancha, Telleria, Dolores, Rivero, Jose Carlos, Diez, Juan Jose, Lopez-Ibarra, Pablo J, Jaunsolo, Miguel Angel, Benitez, Javier, Robledo, Mercedes

“…Familial paraganglioma is a dominantly inherited disorder characterised by the development of highly vascular tumours in the head and neck. Recently, a…”
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Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene by VIRIBAY, M, HAYASHI, T, SAN MILLAN, J. L, TELLERIA, D, MOCHIZUKI, T, REYNOLDS, D. M, ALONSO, R, LENS, X. M, MORENO, F, HARRIS, P. C, SOMLO, S

“…Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequent inherited disorders. The majority of cases are due to mutation of the PKD1…”
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Insulin gene variable number of tandem repeats regulatory polymorphism is not associated with hyperandrogenism in Spanish women by Calvo, Rosa M, Tellería, Dolores, Sancho, José, San Millán, José L, Escobar-Morreale, Héctor F

“…To determine if the insulin gene variable number of tandem repeats (VNTR) regulatory polymorphism is associated with hyperandrogenism in a population of…”
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Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations by Ruiz-Llorente, Sergio, Bravo, Jerónimo, Cebrián, Arancha, Cascón, Alberto, Pollan, Marina, Tellería, Dolores, Letón, Rocío, Urioste, Miguel, Rodríguez-López, Raquel, de Campos, Jose M., Muñoz, María J., Lacambra, Carmen, Benítez, Javier, Robledo, Mercedes

“…Von Hippel‐Lindau (VHL) disease is a hereditary cancer syndrome caused by germline mutations in the VHL gene. This gene, located in the 3p25‐26 chromosome, is…”
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G12S and H50R variations are polymorphisms in the SDHD gene by Cascón, Alberto, Ruiz-Llorente, Sergio, Cebrián, Arancha, Letón, Rocío, Tellería, Dolores, Benítez, Javier, Robledo, Mercedes

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