Search Results - "Sanmillan, J."

O-024 - IMPACTO DE LA INSTAURACIÓN DE UN COMITÉ MULTIDISCIPLINAR EN LA SUPERVIVENCIA DE LOS PACIENTES CON METÁSTASIS ESPINALES SOMETIDOS A CIRUGÍA by Martínez, O. Godino, Duce, D. Martí, Sanmillan, J., Canals, A. Gabarrós, Obarrio, L. López, Sánchez, R.

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Bilateral ganglion cysts : Case report and review of the literature by DIAMANTOPOULOS, J, DIEZ, R, JEREZ, P, SANMILLAN, J, CHOUDRI, H, CORDOBA, A

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The polycystic kidney disease 1 ( PKD1 ) gene encodes a novel protein with multiple cell recognition domains by Clark, Kevin, Peral, Belén, Gamble, Vicki, San Millán, José L, Hughes, Jim, Ward, Christopher J, Harris, Peter C, Aspinwall, Richard

“…Characterization of the polycystic kidney disease 1 (PKD1) gene has been complicated by genomic rearrangements on chromosome 16. We have used an exon linking…”
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Long-term response to radiotherapy of vertebral hemangioma resulting in paraplegia by Serrano, M, Iglesias, A, San Millan, J

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Considerations on Chagas-Mazza disease by MARCHESE, M J, BERTORELLO, M C, SANMILLAN, J

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Gliomatosis cerebri mimicking a metastatic breast cancer : Fatal outcome by IGLESIAS, A, GARCIA, M, SAN MILLAN, J, VILLANUEVA, C, FRAILE, G, SERRANO, M

“…Gliomatosis cerebri (GC) is defined by the World Health Organization as a neoplasm of the glial cells. It is extremely rare, and there exists only 160…”
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A Stable, Nonsense Mutation Associated with a Case of Infantile Onset Polycystic Kidney Disease 1 (PKD1) by Peral, Belén, Ong, Albert C. M., San Millân, José L., Gamble, Vicki, Rees, Lesley, Harris, Peter C.

“…Autosomal dominant polycystic kidney disease (ADPKD) is the most common single gene disorder resulting in renal failure. It is generally an adult onset…”
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Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations by PERAL, B, SAN MILLAN, J. L, ONG, A. C. M, GAMBLE, V, WARD, C. J, STRONG, C, HARRIS, P. C

“…Recently, the gene for the most common form of autosomal dominant polycystic kidney disease (ADPKD), PKD1 (polycystic kidney disease 1), has been fully…”
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Regulation of pre-T cell receptor (pT alpha-TCR beta) gene expression during human thymic development by Ramiro, A R, Trigueros, C, Márquez, C, San Millán, J L, Toribio, M L

“…In murine T cell development, early thymocytes that productively rearrange the T cell receptor (TCR) beta locus are selected to continue maturation, before TCR…”
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The smallest known gene by González-Pastor, José E, San Millán, José L, Moreno, Felipe

“…Although commonly found in nucleotide sequences, very short open reading frames (ORFs) are usually thought to have no biological significance. But our results,…”
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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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Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2 by SAN MILLAN, J. L, VIRIBAY, M, PERAL, B, MARTINEZ, I, WEISSENBACH, J, MORENO, F

“…Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder. At least two distinct forms of ADPKD are now well defined. In…”
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Evidence of linkage disequilibrium in the spanish polycystic kidney disease I population by PERAL, B, WARD, C. J, SAN MILLAN, J. L, THOMAS, S, STALLINGS, R. L, MORENO, F, HARRIS, P. C

“…Forty-one Spanish families with polycystic kidney disease 1 (PKD1) were studied for evidence of linkage disequilibrium between the disease locus and six…”
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Case imaging: 1. Foramen disk hernia mimicking neurogenic tumor by Salamé Gamarra, F, Martínez SanMillán, J, Goitia, I Mota

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A case of papilledema and Arnold-Chiari type I malformation by Pardo Muñoz, A, Reche Sainz, J A, Sanz López, A, Díaz Orro, B, Lorenzo, G, Sanmillán, J

“…A 12-year old girl was brought to the emergency ward because of headache and diplopia for 4 days. Bilateral papilledema was observed. Ancillary studies showed…”
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Use of phoA fusions to study the topology of the Escherichia coli inner membrane protein leader peptidase by SAN MILLAN, J. L, BOYD, D, DALBEY, R, WICKNER, W, BECKWITH, J

“…Article Usage Stats Services JB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Peritonsillar abscess with parotid and peripharyngeal extension. Report of a case by Barroso Braojos, G, Raboso García-Baquero, E, Martínez Sanmillán, J, Martínez Vidal, A

“…Peritonsillar abscess is the most frequent complication of a tonsillar infection. The purulent material can spread from peritonsillar space to the fascial neck…”
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Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina by Iglesias, D M, Martín, R S, Fraga, A, Virginillo, M, Kornblihtt, A R, Arrizurieta, E, Viribay, M, San Millán, J L, Herrera, M, Bernath, V

“…Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder with genetic heterogeneity. Up to three loci are involved in this disease, PKD1…”
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Isolated sensory trigeminal neuropathy caused by a lateral pontine infarct by domínguez Morán, J A, Callejo, J M, Frutos, T, Martínez-SanMillán, J, Barón, M, Gobernado, J M

“…Lesion of cranial nerves due to vascular damage at pontine level generally associates affectation of near nerve tracts. Isolated fifth nerve palsy due to…”
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Anticipation of end-stage renal disease in autosomal dominant polycystic kidney disease by GONZALO, A, GALLEGO, A, SAN MILLAN, J. L, ORTUNO, J

“…Recently, anticipation of renal failure, i.e. earlier onset of end-stage renal disease in successive generations, has been reported in autosomal dominant…”
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