about
Islet cell autoantigen 69 kD (ICA69). Molecular cloning and characterization of a novel diabetes-associated autoantigenFunctional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophyGenetics of type III Bartter syndrome in Spain, proposed diagnostic algorithmPrevalence of obesity, diabetes and other cardiovascular risk factors in Andalusia (southern Spain). Comparison with national prevalence data. The Di@bet.es study.Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.Identification and cloning of a granule autoantigen (carboxypeptidase-H) associated with type I diabetes.Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1BNovel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.Accuracy in copy number calling by qPCR and PRT: a matter of DNA.Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene.Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels.Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defectsRelative predispositional effects of HLA class II DRB1-DQB1 haplotypes and genotypes on type 1 diabetes: a meta-analysis.Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locusEffect of cyclosporin A treatment on the production of antibody in insulin-dependent (type I) diabetic patientsPrevalence of diabetes mellitus and impaired glucose regulation in Spain: the Di@bet.es StudyLow Physical Activity and Its Association with Diabetes and Other Cardiovascular Risk Factors: A Nationwide, Population-Based Study.Evaluation of Health-Related Quality of Life according to Carbohydrate Metabolism Status: A Spanish Population-Based Study (Di@bet.es Study).Type 2 diabetes mellitus in relation to global LINE-1 DNA methylation in peripheral blood: a cohort study.Lower Frequency of HLA-DRB1 Type 1 Diabetes Risk Alleles in Pediatric Patients with MODY.Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.Interleukin-1 antagonism in type 1 diabetes of recent onset: two multicentre, randomised, double-blind, placebo-controlled trialsType-I diabetes: a chronic autoimmune disease of human, mouse, and rat.Diagnosis and treatment of multiple endocrine neoplasia type 1 (MEN1).Is routine endocrine evaluation necessary after paediatric traumatic brain injury?Long-term and acute effects of gliadin on small intestine of patients on potentially pathogenic networks in celiac disease.An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis.Association between waist circumference and magnesium and uric acid in indigenous Argentinean children living at high altitude.Reference values for TSH may be inadequate to define hypothyroidism in persons with morbid obesity: Di@bet.es study.Population-Based National Prevalence of Thyroid Dysfunction in Spain and Associated Factors: Di@bet.es Study.Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH.Prevalence of diabetes mellitus and impaired glucose metabolism in the adult population of the Basque Country, Spain.Prevalence, Diagnosis, Treatment, and Control of Hypertension in Spain. Results of the Di@bet.es Study.Exploring the diabetogenicity of the HLA-B18-DR3 CEH: independent association with T1D genetic risk close to HLA-DOA.Factors associated with early remission of type I diabetes in children treated with cyclosporine.RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation.Filtration is a time-efficient option to Histopaque, providing good-quality islets in mouse islet isolation.
P50
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P50
description
hulumtues
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researcher
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wetenschapper
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հետազոտող
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name
Luis Castaño
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Luis Castaño
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Luis Castaño
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Luis Castaño
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Luis Castaño
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type
label
Luis Castaño
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Luis Castaño
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Luis Castaño
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Luis Castaño
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Luis Castaño
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Castano L
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Castaño L
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Luis Castaño
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Luis Castaño
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Luis Castaño
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Luis Castaño
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Luis Castaño
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P106
P2038
Luis_Castano2
P21
P31
P496
0000-0003-0437-9401