Published in Horm Res Paediatr on November 07, 2013
Interleukin-1 antagonism in type 1 diabetes of recent onset: two multicentre, randomised, double-blind, placebo-controlled trials. Lancet (2013) 2.45
GAD65 antigen therapy in recently diagnosed type 1 diabetes mellitus. N Engl J Med (2012) 2.01
Combined functional and positional gene information for the identification of susceptibility variants in celiac disease. Gastroenterology (2007) 1.56
Inverse association between insulin resistance and frequency of milk consumption in low-income Argentinean school children. J Pediatr (2008) 1.47
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. J Clin Endocrinol Metab (2007) 1.41
No association of CTLA4 gene with celiac disease in the Basque population. J Pediatr Gastroenterol Nutr (2003) 1.40
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proc Natl Acad Sci U S A (2010) 1.36
TH17 (and TH1) signatures of intestinal biopsies of CD patients in response to gliadin. Autoimmunity (2009) 1.29
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing. Diabetes Care (2013) 1.18
Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. Clin Endocrinol (Oxf) (2007) 1.11
New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism. Eur J Endocrinol (2010) 1.03
Accuracy in copy number calling by qPCR and PRT: a matter of DNA. PLoS One (2011) 1.00
Urinary iodine and thyroid function in a population of healthy pregnant women in the North of Spain. J Trace Elem Med Biol (2013) 0.98
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. J Clin Endocrinol Metab (2006) 0.97
A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain. Pediatr Nephrol (2005) 0.94
HLA-DRB1 and MICA in autoimmunity: common associated alleles in autoimmune disorders. Ann N Y Acad Sci (2003) 0.93
MICA response to gliadin in intestinal mucosa from celiac patients. Immunogenetics (2004) 0.90
Waist circumference identifies primary school children with metabolic syndrome abnormalities. Diabetes Technol Ther (2007) 0.90
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 1B. J Clin Endocrinol Metab (2009) 0.90
Analysis of beta-defensin and Toll-like receptor gene copy number variation in celiac disease. Hum Immunol (2010) 0.89
Relationship between ZnT8Ab, the SLC30A8 gene and disease progression in children with newly diagnosed type 1 diabetes. Autoimmunity (2011) 0.88
Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients. Clin Endocrinol (Oxf) (2008) 0.87
Methylation levels of the SCD1 gene promoter and LINE-1 repeat region are associated with weight change: an intervention study. Mol Nutr Food Res (2014) 0.86
Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events. BMC Med Genet (2011) 0.86
Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels. J Clin Endocrinol Metab (2010) 0.85
Prevalence of the metabolic syndrome in Spain using regional cutoff points for waist circumference: the di@bet.es study. Acta Diabetol (2013) 0.85
Type 2 diabetes mellitus in relation to global LINE-1 DNA methylation in peripheral blood: a cohort study. Epigenetics (2014) 0.85
Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism. J Clin Endocrinol Metab (2013) 0.84
New mutation type in pseudohypoparathyroidism type Ia. Clin Endocrinol (Oxf) (2008) 0.84
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes. BMC Med Genet (2013) 0.84
Comparison of different anthropometric indices for identifying insulin resistance in schoolchildren. Diabetes Technol Ther (2009) 0.84
Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm. PLoS One (2013) 0.83
Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain. Clin Endocrinol (Oxf) (2012) 0.83
Analysis of the expression of MICA in small intestinal mucosa of patients with celiac disease. J Clin Immunol (2003) 0.82
Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene. PLoS One (2012) 0.82
Factors determining high-sensitivity C-reactive protein values in the Spanish population. Di@bet.es study. Eur J Clin Invest (2012) 0.82
Is albuminuria associated with obesity in school children? Pediatr Diabetes (2010) 0.82
A regulatory single nucleotide polymorphism in the ubiquitin D gene associated with celiac disease. Hum Immunol (2010) 0.81
Killer cell immunoglobulin-like receptor (KIR) genes in the Basque population: association study of KIR gene contents with type 1 diabetes mellitus. Hum Immunol (2006) 0.81
5'-Insulin gene VNTR polymorphism is specific for type 1 diabetes: no association with celiac or Addison's disease. Ann N Y Acad Sci (2003) 0.81
Long-term and acute effects of gliadin on small intestine of patients on potentially pathogenic networks in celiac disease. Autoimmunity (2010) 0.81
No association of TLR2 and TLR4 polymorphisms with type I diabetes mellitus in the Basque population. Ann N Y Acad Sci (2006) 0.81
Associations between COMTVal158Met polymorphism and cognition: direct or indirect effects? Eur Psychiatry (2006) 0.81
Two-year follow-up of anti-transglutaminase autoantibodies among celiac children on gluten-free diet: comparison of IgG and IgA. Autoimmunity (2007) 0.80
Ambient temperature and prevalence of obesity in the Spanish population: The Di@bet.es study. Obesity (Silver Spring) (2014) 0.80
Improvement in lipid profile after vitamin D supplementation in indigenous argentine school children. Cardiovasc Hematol Agents Med Chem (2014) 0.80
Association of lipoprotein-associated phospholipase A₂ activity with components of the metabolic syndrome in apparently healthy boys. Cardiovasc Hematol Agents Med Chem (2011) 0.80
Absence of diabetes mellitus type 2 in obese children and adolescents in the north of Spain. J Pediatr Endocrinol Metab (2013) 0.79
Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report. J Pediatr Endocrinol Metab (2010) 0.79
Dyslipidemia without obesity in indigenous Argentinean children living at high altitude. J Pediatr (2012) 0.79
Relationship between obesity and metabolic syndrome among Argentinean elementary school children. Clin Biochem (2009) 0.79
Low vitamin D concentrations among indigenous Argentinean children living at high altitudes. Pediatr Diabetes (2013) 0.79
Variation within the PPARG gene is associated with residual beta-cell function and glycemic control in children and adolescents during the first year of clinical type 1 diabetes. Pediatr Diabetes (2008) 0.78
Comparison of different anthropometric indices for identifying dyslipidemia in school children. Clin Biochem (2011) 0.78
ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation. Eur J Pediatr (2008) 0.78
Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome. Eur J Endocrinol (2009) 0.78
Contribution of MIC-A polymorphism to type 1 diabetes mellitus in Basques. Ann N Y Acad Sci (2002) 0.78
Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis. Clin Nephrol (2014) 0.77
No evidence of association of CTLA4 polymorphisms with Addison's disease. Autoimmunity (2004) 0.76
Modifications of the homeostasis model assessment of insulin resistance index with age. Acta Diabetol (2014) 0.76
Filtration is a time-efficient option to Histopaque, providing good-quality islets in mouse islet isolation. Cytotechnology (2014) 0.76
Association of vitamin D with glucose levels in indigenous and mixed population Argentinean boys. Clin Biochem (2012) 0.76
Lifestyle behaviors and dyslipidemia in Argentinean native versus urban children. Clin Biochem (2012) 0.76
Association between nontraditional risk factors and metabolic syndrome in indigenous Argentinean schoolchildren. Diabetes Technol Ther (2014) 0.76
Can the metabolic syndrome identify children with insulin resistance? Pediatr Diabetes (2007) 0.76
Factors affecting levels of urinary albumin excretion in the general population of Spain: the Di@bet.es study. Clin Sci (Lond) (2013) 0.76
Evidence that the COMTVal158Met polymorphism moderates subclinical psychotic and affective symptoms in unaffected first-degree relatives of patients with schizophrenia. Eur Psychiatry (2008) 0.76
Neonatal diabetes with end-stage nephropathy: pancreas transplantation decision. Diabetes Care (2008) 0.75
Immunoglobulin G autoantibodies against tissue-transglutaminase. A sensitive, cost-effective assay for the screening of celiac disease. Autoimmunity (2002) 0.75
Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome. J Pediatr Endocrinol Metab (2014) 0.75
A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities. Am J Med Genet A (2003) 0.75
Genetics of pseudohypoparathyroidism: bases for proper genetic counselling. Endocrinol Nutr (2009) 0.75
Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients. J Hum Genet (2008) 0.75
Impact of unhealthy lifestyle behaviors and obesity on cholesteryl ester transfer protein among adolescent males. Arch Med Res (2011) 0.75
Status of Dyslipidemia in Vitamin D Supplemented Argentinean Indigenous Children Versus A Non-supplemented Mixed Population Group. Cardiovasc Hematol Agents Med Chem (2015) 0.75
A submicroscopic deletion of 11p13 associated with the WAGR syndrome. Clin Genet (2003) 0.75
RenalTube: a network tool for clinical and genetic diagnosis of primary tubulopathies. Eur J Pediatr (2013) 0.75
In vitro emergence of carbapenem resistance in extended-spectrum β-lactamase-producing Klebsiella pneumoniae clinical isolates. J Infect Dev Ctries (2015) 0.75
Asymmetric IgG antibodies induced by different immunotherapies in a murine model of allergy. Immunol Invest (2009) 0.75
Improvement of Apolipoprotein B in Argentine Indigenous School Children after Vitamin D Supplementation. Cardiovasc Hematol Agents Med Chem (2015) 0.75
Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine. Eur J Pediatr (2011) 0.75
Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1. J Pediatr Endocrinol Metab (2015) 0.75
[Multiple endocrine neoplasia 2A type: a genetic study of one family]. Med Clin (Barc) (2005) 0.75
No evidence of pancreatic autoimmunity among patients with multiple sclerosis. Ann N Y Acad Sci (2004) 0.75
Polymorphisms in the SCD1 gene are associated with indices of stearoyl CoA desaturase activity and obesity: a prospective study. Mol Nutr Food Res (2013) 0.75
Dysmorphic features, frontal cerebral cavernoma and hyperglycemia in a girl with a de novo deletion of 7.23 Mb in region 7p13-p12.1. J Clin Res Pediatr Endocrinol (2017) 0.75
Determination of 21-hydroxylase autoantibodies: inter-laboratory concordance in the Euradrenal International Serum Exchange Program. Clin Chem Lab Med (2015) 0.75