Search Results - "de Nanclares, G. P."

Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis by Ertl, D.-A., Mantovani, G., de Nanclares, G. P., Elli, F. M., Pereda, A., Pagnano, A., Sanchis, A., Cueto-Gonzalez, A. M., Berrade, S., León, M. C., Rothenbuhler, A., Audrain, C., Berkenou, J., Knight, N., Dolman, K., Gleiss, A., Argente, J., Linglart, A.

“…Introduction Severe short stature is a feature of acrodysostosis, but data on growth are sparse. Treatment with recombinant human growth hormone (rhGH) is used…”
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The first clinical case of a mutation at residue K185 of Kir6.2 (KCNJ11): a major ATP‐binding residue by Shimomura, K., De Nanclares, G. P., Foutinou, C., Caimari, M., Castaño, L., Ashcroft, F. M.

“…Diabet. Med. 27, 225–229 (2010) Background  Closure of the adenosine triphosphate (ATP)‐sensitive potassium (KATP) channel plays a key role in insulin…”
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Heterozygous glucokinase mutations and birth weight in Spanish children by De Las Heras, J., Martínez, R., Rica, I., De Nanclares, G. P., Vela, A., Castaño, L.

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Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement by Mantovani, Giovanna, Bastepe, Murat, Monk, David, de Sanctis, Luisa, Thiele, Susanne, Usardi, Alessia, Ahmed, S. Faisal, Bufo, Roberto, Choplin, Timothée, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thomas, Elli, Francesca M., Freson, Kathleen, García Ramirez, Aurora, Germain-Lee, Emily L., Groussin, Lionel, Hamdy, Neveen, Hanna, Patrick, Hiort, Olaf, Jüppner, Harald, Kamenický, Peter, Knight, Nina, Kottler, Marie-Laure, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A., Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Ángel, Minagawa, Masanori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lars, Rodado, Rebecca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H., Shore, Eileen M., Silve, Caroline, Turan, Serap, Woods, Philip, Zillikens, M. Carola, Perez de Nanclares, Guiomar, Linglart, Agnès

“…This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which…”
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Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients by Mantovani, Giovanna, Bastepe, Murat, Monk, David, de Sanctis, Luisa, Thiele, Susanne, Ahmed, S Faisal, Bufo, Roberto, Choplin, Timothée, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thomas, Elli, Francesca M, Garcia Ramirez, Aurora, Germain-Lee, Emily L, Groussin, Lionel, Hamdy, Neveen A T, Hanna, Patrick, Hiort, Olaf, Jüppner, Harald, Kamenický, Peter, Knight, Nina, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A, Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Ángel, Minagawa, Manasori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lars, Rodado, Rebeca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H, Shore, Eileen M, Silve, Caroline, Turan, Serap, Woods, Philip, Zillikens, M Carola, Perez de Nanclares, Guiomar, Linglart, Agnès

“…Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short…”
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Functional Study of a Novel Single Deletion in the TITF1/NKX2.1 Homeobox Gene That Produces Congenital Hypothyroidism and Benign Chorea But Not Pulmonary Distress by Moya, Christian M., Perez de Nanclares, Guiomar, Castaño, Luis, Potau, Neus, Bilbao, J. Ramón, Carrascosa, Antonio, Bargadá, María, Coya, Raquel, Martul, Pedro, Vicens-Calvet, Enric, Santisteban, Pilar

“…Context: We studied two sisters with congenital hypothyroidism and choreoathetosis but not respiratory distress. Objective: The aim of this study was to…”
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Exclusion of the GNAS Locus in PHP-lb Patients With Broad GNAS Methylation Changes: Evidence for an Autosomal Recessive Form of PHP-lb? by Fernandez-Rebollo, E, de Nanclares, GP, Lecumberri, B, Turan, S, Anda, E, Perez-Nanclares, G, Feig, D, Nik-Zainal, S, Bastepe, M, Jueppner, H

“…Most patients with autosomal dominant pseudohypoparathyroidism type lb (AD-PHP-lb) carry maternally inherited microdeletions upstream of GNAS that are…”
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Conserved extended haplotypes discriminate HLA-DR3-homozygous Basque patients with type 1 diabetes mellitus and celiac disease by Bilbao, J R, Calvo, B, Aransay, A M, Martin-Pagola, A, Perez de Nanclares, G, Aly, T A, Rica, I, Vitoria, J C, Gaztambide, S, Noble, J, Fain, P R, Awdeh, Z L, Alper, C A, Castaño, L

“…The major susceptibility locus for type 1 diabetes mellitus (T1D) maps to the human lymphocyte antigen (HLA) class II region in the major histocompatibility…”
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HLA-DRB1 and MICA in autoimmunity: common associated alleles in autoimmune disorders by Bilbao, J Ramón, Martín-Pagola, Ainhoa, Pérez De Nanclares, Guiomar, Calvo, Begoña, Vitoria, Juan Carlos, Vázquez, Federico, Castaño, Luis

“…Autoimmune disorders such as type 1 diabetes (T1DM), celiac disease (CD), and Addison's disease (ADD) develop in individuals with genetic susceptibility that…”
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Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4 by Santin, I, Castellanos-Rubio, A, Perez de Nanclares, G, Vitoria, J C, Castaño, L, Bilbao, J R

“…Genome-wide scans have detected linkage to celiac disease (CD) in several genomic locations, including 19q13.4. Killer immunoglobulin-like receptor (KIR) genes…”
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Heterogeneity of vitamin D receptor gene association with celiac disease and type 1 diabetes mellitus by Pedro, J.I. San, Bilbao, J.R., Perez de Nanclares, G., Vitoria, J.C., Martul, P., Castaño, L.

“…Objective: Vitamin D has been shown to exert multiple immunomodulatory effects and is known to suppress T-cell activation by binding to the vitamin D receptor…”
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A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain by Rodríguez-Soriano, Juan, Vallo, Alfredo, Pérez de Nanclares, Gustavo, Bilbao, José Ramón, Castaño, Luis

“…The term "Bartter syndrome" encompasses a group of closely related inherited tubulopathies characterized by markedly reduced NaCl transport by the distal…”
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Contribution of MIC-A Polymorphism to Type 1 Diabetes Mellitus in Basques by BILBAO, J. RAMÓN, MARTÍN-PAGOLA, AINHOA, CALVO, BEGOÑA, PEREZ DE NANCLARES, GUIOMAR, GEPV-N, CASTAÑO, LUIS

“…: The maximum genetic susceptibility to type 1 diabetes (T1DM) in Basques is conferred by extended HLA haplotype F1C30‐DR3‐DQ2‐DPB1*0202. Due to the strong…”
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5'-Insulin gene VNTR polymorphism is specific for type 1 diabetes: no association with celiac or Addison's disease by Pérez De Nanclares, Guiomar, Bilbao, J Ramón, Calvo, Begoña, Vitoria, Juan Carlos, Vázquez, Federico, Castaño, Luis

“…The VNTR region located at the 5'-end of the insulin gene on chromosome 11p15.5 is linked to susceptibility to type 1 diabetes mellitus (T1DM), and class I…”
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No association of CTLA4 gene with celiac disease in the Basque population by MARTIN-PAGOLA, Ainhoa, PEREZ DE NANCLARES, Guiomar, VITORIA, Juan C, BILBAO, J. Ramon, ORTIZ, Lourdes, ZUBILLAGA, Paul, CASTANO, Luis

“…Celiac disease (CD) is an autoimmune disorder caused by intolerance to ingested gluten that develops in genetically susceptible individuals. The contribution…”
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Two-year follow-up of anti-transglutaminase autoantibodies among celiac children on gluten-free diet: Comparison of IgG and IgA by Martín-Pagola, Ainhoa, Ortiz-Paranza, Lourdes, Bilbao, Jose Ramon, Pérez de Nanclares, Guiomar, Estevez, Elena Perez, Castaño, Luis, Vitoria, Juan Carlos

“…Objectives: To investigate the evolution of IgA and IgG autoantibodies against tissue transglutaminase (tTGase) in celiac patients on gluten-free diet (GFD)…”
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No Association of INS-VNTR Genotype and IAA Autoantibodies by DE NANCLARES, GUIOMAR PÉREZ, BILBAO, J. RAMÓN, CASTAŃO, LUIS

“…: Type 1 diabetes is associated with autoimmune responses against insulin, with insulin autoantibodies (IAA) being a hallmark of the disease. Genetic…”
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Short Communication by de Nanclares, GP, Martin-Pagola, A, Bilbao, R, Vazquez, F, Castano, L

“…Background: Addison's disease (AD) is an autoimmune disorder caused by the destruction of the adrenal gland by the lymphocytes in genetically susceptible…”
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Analysis of the expression of MICA in small intestinal mucosa of patients with celiac disease by MARTIN-PAGOLA, Ainhoa, ORTIZ, Lourdes, PEREZ DE NANCLARES, Gustavo, VITORIA, Juan Carlos, CASTANO, Luis, BILBAO, J. Ramon

“…The MHC class I chain-related A gene (MICA) is expressed in gastrointestinal epithelium and functions as an immune activation signal under stress conditions…”
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Excess Iron Storage in Patients with Type 2 Diabetes Unrelated to Primary Hemochromatosis by Pi, Javier, de Nanclares, Guiomar Pérez, Vázquez, Jose Antonio, Castaño, Luis, González, Maria Luisa, Gaztambide, Sonia, Bilbao, Jose Ramón

“…To the Editor: The discovery of mutations in the HFE gene in patients with hemochromatosis has made possible earlier or more complete ascertainment of cases of…”
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