Search Results - "FONTAN, Gumersindo" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency

Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency

by Behrens, Timothy W, Hammarström, Lennart, Ferreira, Ricardo C, Pan-Hammarström, Qiang, Graham, Robert R, Gateva, Vesela, Fontán, Gumersindo, Lee, Annette T, Ortmann, Ward, Urcelay, Elena, Fernández-Arquero, Miguel, Núñez, Concepción, Jorgensen, Gudmundur, Ludviksson, Björn R, Koskinen, Sinikka, Haimila, Katri, Clark, Hilary F, Klareskog, Lars, Gregersen, Peter K
Published in Nature genetics (01.09.2010)

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High-density SNP mapping of the HLA region identifies multiple independent susceptibility loci associated with selective IgA deficiency

High-density SNP mapping of the HLA region identifies multiple independent susceptibility loci associated with selective IgA deficiency

by Ferreira, Ricardo C, Pan-Hammarström, Qiang, Graham, Robert R, Fontán, Gumersindo, Lee, Annette T, Ortmann, Ward, Wang, Ning, Urcelay, Elena, Fernández-Arquero, Miguel, Núñez, Concepción, Jorgensen, Gudmundur, Ludviksson, Björn R, Koskinen, Sinikka, Haimila, Katri, Padyukov, Leonid, Gregersen, Peter K, Hammarström, Lennart, Behrens, Timothy W
Published in PLoS genetics (01.01.2012)

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Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rate

Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rate

by Mitui, Midori, Campbell, Catarina, Coutinho, Gabriela, Sun, Xia, Lai, Chih-Hung, Thorstenson, Yvonne, Castellvi-Bel, Sergi, Fernandez, Luis, Monros, Eugenia, Tavares Costa Carvalho, Beatriz, Porras, Oscar, Fontan, Gumersindo, Gatti, Richard A.
Published in Human mutation (01.07.2003)

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A novel Wiskott-Aldrich syndrome protein (WASP) complex mutation identified in a WAS patient results in an aberrant product at the C-terminus from two transcripts with unusual polyA signals

A novel Wiskott-Aldrich syndrome protein (WASP) complex mutation identified in a WAS patient results in an aberrant product at the C-terminus from two transcripts with unusual polyA signals

by Andreu, Nuria, García-Rodríguez, Maricruz, Volpini, Victor, Frecha, Cecilia, Molina, Ignacio J, Fontan, Gumersindo, Fillat, Cristina
Published in Journal of human genetics (01.02.2006)

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Hereditary angioedema: The mutation spectrum of SERPING1/C1NH in a large Spanish cohort

Hereditary angioedema: The mutation spectrum of SERPING1/C1NH in a large Spanish cohort

by Roche, Olga, Blanch, Alvaro, Duponchel, Christiane, Fontán, Gumersindo, Tosi, Mario, López-Trascasa, Margarita
Published in Human mutation (01.08.2005)

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A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia

A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia

by LOPEZ-GRANADOS, Eduardo, PEREZ DE DIEGO, Rebeca, FERREIRA CERDAN, Antonio, FONTAN CASARIEGO, Gumersindo, GARCIA RODRIGUEZ, Maria Cruz
Published in Journal of allergy and clinical immunology (01.09.2005)

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First case of homozygous C1 inhibitor deficiency

First case of homozygous C1 inhibitor deficiency

by Blanch, Alvaro, Roche, Olga, Urrutia, Ignacio, Gamboa, Pedro, Fontán, Gumersindo, López-Trascasa, Margarita
Published in Journal of allergy and clinical immunology (01.12.2006)

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Molecular characterization of three new mutations causing C5 deficiency in two non-related families

Molecular characterization of three new mutations causing C5 deficiency in two non-related families

by López-Lera, Alberto, Garrido, Sofía, de la Cruz, Rocío Mena, Fontán, Gumersindo, López-Trascasa, Margarita
Published in Molecular immunology (01.07.2009)

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Molecular characterization of complement Factor I deficiency in two Spanish families

Molecular characterization of complement Factor I deficiency in two Spanish families

by Ponce-Castro, Isabel María, González-Rubio, Carolina, Delgado-Cerviño, Eva María, Abarrategui-Garrido, Cynthia, Fontán, Gumersindo, Sánchez-Corral, Pilar, López-Trascasa, Margarita
Published in Molecular immunology (01.05.2008)

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Interleukin-6 gene variation in Spanish patients with immunoglobulin-A deficiency

Interleukin-6 gene variation in Spanish patients with immunoglobulin-A deficiency

by López-Mejías, Raquel, Martínez, Alfonso, del Pozo, Nadia, Fernández-Arquero, Miguel, Ferreira, Antonio, Urcelay, Elena, Fontán, Gumersindo, de la Concha, Emilio G, Núñez, Concepción
Published in Human immunology (01.04.2008)

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Lack of evidence of a role of XBP1 and PRDM1 polymorphisms in Spanish patients with immunoglobulin A deficiency

Lack of evidence of a role of XBP1 and PRDM1 polymorphisms in Spanish patients with immunoglobulin A deficiency

by del Pozo, Nadia, López-Mejías, Raquel, Fernández-Arquero, Miguel, Ferreira, Antonio, García-Rodríguez, Mari Cruz, de la Concha, Emilio G, Fontán, Gumersindo, Urcelay, Elena, Núñez, Concepción
Published in Human immunology (01.11.2009)

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Identification of novel non-pathogenic mutation in SH3 domain of Btk in an XLA patient

Identification of novel non-pathogenic mutation in SH3 domain of Btk in an XLA patient

by Pérez de Diego, Rebeca, Bravo, Jerónimo, Allende, Luis M., López-Granados, Eduardo, Rivera, José, Ferreira, Antonio, Fontán, Gumersindo, García Rodríguez, Ma Cruz
Published in Molecular immunology (01.01.2008)

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Interleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study

Interleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study

by Ortiz, Javier, Fernández-Arquero, Miguel, Urcelay, Elena, López-Mejías, Raquel, Ferreira, Antonio, Fontán, Gumersindo, de la Concha, Emilio G, Martínez, Alfonso
Published in BMC genetics (27.06.2006)

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Bruton's tyrosine kinase is not essential for LPS-induced activation of human monocytes

Bruton's tyrosine kinase is not essential for LPS-induced activation of human monocytes

by Pérez de Diego, Rebeca, López-Granados, Eduardo, Pozo, Maite, Rodríguez, Cristina, Sabina, Prado, Ferreira, Antonio, Fontan, Gumersindo, García-Rodríguez, Maria Cruz, Alemany, Susana
Published in Journal of Allergy and Clinical Immunology (01.06.2006)

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Splicing variants in C1 inhibitor gene: Quantitative study in hereditary angioedema patients

Splicing variants in C1 inhibitor gene: Quantitative study in hereditary angioedema patients

by de la Cruz, Rocio Mena, Lopez-Lera, Alberto, Garrido-Herrero, Sofia, Fontan, Gumersindo, Lopez-Trascasa, Margarita
Published in Molecular immunology (01.10.2008)

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Molecular characterisation of a C5 deficiency caused by a de novo mutation

Molecular characterisation of a C5 deficiency caused by a de novo mutation

by Lopez-Lera, Alberto, Garrido-Herrero, Sofia, de la Cruz, Rocio Mena, Ramos, Jose Manuel, Fontan, Gumersindo, Lopez-Trascasa, Margarita
Published in Molecular immunology (01.10.2008)

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MHC Susceptibility Genes to IgA Deficiency Are Located in Different Regions on Different HLA Haplotypes

MHC Susceptibility Genes to IgA Deficiency Are Located in Different Regions on Different HLA Haplotypes

by De la Concha, Emilio G, Fernandez-Arquero, Miguel, Gual, Lorena, Vigil, Patricia, Martinez, Alfonso, Urcelay, Elena, Ferreira, Antonio, Garcia-Rodriguez, Maria C, Fontan, Gumersindo
Published in The Journal of immunology (1950) (15.10.2002)

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Molecular analysis of Bruton's tyrosine kinase gene in Spain

Molecular analysis of Bruton's tyrosine kinase gene in Spain

by Rodríguez, Ma Cruz García, Granados, Eduardo López, Cerdán, Antonio Ferreira, Casariego, Gumersindo Fontán
Published in Human mutation (01.07.2001)

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Soluble interleukin 6 (IL-6) receptor and IL-6 levels in serum and synovial fluid of patients with different arthropathies

Soluble interleukin 6 (IL-6) receptor and IL-6 levels in serum and synovial fluid of patients with different arthropathies

by Usón, J, Balsa, A, Pascual-Salcedo, D, Cabezas, J A, Gonzalez-Tarrio, J M, Martín-Mola, E, Fontan, G
Published in Journal of rheumatology (01.11.1997)

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Kinase activity and XLA phenotypic variability

Kinase activity and XLA phenotypic variability

by de Diego, Rebeca Pérez, Granados, Eduardo López, Cerdán, Antonio Ferreira, Casariego, Gumersindo Fontán, Rodríguez, M. Cruz García
Published in Journal of allergy and clinical immunology (2005)

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