Published in Alcohol on May 20, 2005
Neuroimmune signaling: a key component of alcohol abuse. Curr Opin Neurobiol (2013) 1.13
Differential Expression of Gene Profiles in MRGX-treated Lung Cancer. J Pharmacopuncture (2013) 0.75
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet (2011) 2.02
The exon 3-deleted growth hormone receptor is associated with better response to pegvisomant therapy in acromegaly. J Clin Endocrinol Metab (2009) 1.52
Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein. J Pediatr Endocrinol Metab (2005) 1.44
Determinants of serum concentrations of lipopolysaccharide-binding protein (LBP) in the adult population: the role of obesity. PLoS One (2013) 1.15
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? Eur J Endocrinol (2008) 1.05
The -159C/T polymorphism in the promoter region of the CD14 gene is associated with advanced liver disease and higher serum levels of acute-phase proteins in heavy drinkers. Alcohol Clin Exp Res (2005) 1.04
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency. J Clin Endocrinol Metab (2010) 0.99
The role of inbreeding in the extinction of a European royal dynasty. PLoS One (2009) 0.96
Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type. BMC Med Genet (2011) 0.94
High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect. Clin Endocrinol (Oxf) (2006) 0.93
Serum TNF-alpha levels in relation to alcohol consumption and common TNF gene polymorphisms. Alcohol (2008) 0.89
A new seipin-associated neurodegenerative syndrome. J Med Genet (2013) 0.88
A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency. Clin Chem (2007) 0.87
Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system. Hum Mutat (2009) 0.85
Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: prevalence, evolution of hormone dysfunction and genetic analysis. Neuroendocrinology (2011) 0.84
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. J Clin Endocrinol Metab (2007) 0.84
High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency. PLoS One (2008) 0.83
Gene by environment interaction: the -159C/T polymorphism in the promoter region of the CD14 gene modifies the effect of alcohol consumption on serum IgE levels. Alcohol Clin Exp Res (2006) 0.82
Pegvisomant-induced liver injury is related to the UGT1A1*28 polymorphism of Gilbert's syndrome. J Clin Endocrinol Metab (2010) 0.82
LIF, a Novel STAT5-Regulated Gene, Is Aberrantly Expressed in Myeloproliferative Neoplasms. Genes Cancer (2011) 0.80
Novel mutation involving the translation initiation codon of the growth hormone receptor gene (GHR) in a patient with Laron syndrome. J Pediatr Endocrinol Metab (2002) 0.80
Ectopic adrenocorticotropic hormone production by a noncatecholamine secreting pheochromocytoma. J Urol (2002) 0.76
Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant. BMC Genet (2010) 0.76
Liver enzyme levels in relation to a common polymorphism in the CD14 promoter gene. Eur J Gastroenterol Hepatol (2007) 0.75
CAMT in a female with developmental delay, facial malformations and central nervous system anomalies. Pediatr Blood Cancer (2010) 0.75
[X-linked Kallmann's syndrome: intra and interfamilial heterogeneity]. Med Clin (Barc) (2007) 0.75
Transferring data securely from medical devices to EMRs: cardiac clinic moves closer to going paperless. Health Manag Technol (2012) 0.75