Published in Clin Endocrinol (Oxf) on March 01, 2006
Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab (2010) 1.37
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proc Natl Acad Sci U S A (2013) 1.31
Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients. PLoS One (2011) 0.95
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
Multiple local and recent founder effects of TGM1 in Spanish families. PLoS One (2012) 0.82
Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements. PLoS One (2014) 0.77
Clinical profile and inheritance pattern of CYP21A2 gene mutations in patients with classical congenital adrenal hyperplasia from 10 families. Indian J Endocrinol Metab (2015) 0.75
Common variants conferring risk of schizophrenia. Nature (2009) 10.37
Genome sequence of Aedes aegypti, a major arbovirus vector. Science (2007) 9.19
Sequencing of Culex quinquefasciatus establishes a platform for mosquito comparative genomics. Science (2010) 3.18
Common variants at VRK2 and TCF4 conferring risk of schizophrenia. Hum Mol Genet (2011) 2.21
Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort. J Clin Endocrinol Metab (2013) 1.58
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
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. J Clin Endocrinol Metab (2007) 1.41
Structural and evolutionary analyses of the Ty3/gypsy group of LTR retrotransposons in the genome of Anopheles gambiae. Mol Biol Evol (2004) 1.16
Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. Am J Med Genet B Neuropsychiatr Genet (2009) 1.14
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
Association of schizophrenia with DTNBP1 but not with DAO, DAOA, NRG1 and RGS4 nor their genetic interaction. J Psychiatr Res (2007) 1.04
Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). Hum Mutat (2006) 1.00
A comparative study of the utility of two superdisintegrants in microcrystalline cellulose pellets prepared by extrusion-spheronization. Eur J Pharm Biopharm (2005) 0.99
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
Value of the congenital hypertrophy of the retinal pigment epithelium in the diagnosis of familial adenomatous polyposis. Int Ophthalmol (2004) 0.95
TGF-beta-induced apoptosis in human thyrocytes is mediated by p27kip1 reduction and is overridden in neoplastic thyrocytes by NF-kappaB activation. Oncogene (2003) 0.94
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
Highly efficient system to deliver taxanes into tumor cells: docetaxel-loaded chitosan oligomer colloidal carriers. Biomacromolecules (2008) 0.93
PLGA:poloxamer and PLGA:poloxamine blend nanoparticles: new carriers for gene delivery. Biomacromolecules (2005) 0.92
Safe oxygen saturation targeting and monitoring in preterm infants: can we avoid hypoxia and hyperoxia? Acta Paediatr (2014) 0.92
A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism. J Clin Endocrinol Metab (2013) 0.92
Regulation of ghrelin secretion and action. Endocrine (2003) 0.92
Detoxifying antitumoral drugs via nanoconjugation: the case of gold nanoparticles and cisplatin. PLoS One (2012) 0.90
Serum TNF-alpha levels in relation to alcohol consumption and common TNF gene polymorphisms. Alcohol (2008) 0.89
Association study of nonsynonymous single nucleotide polymorphisms in schizophrenia. Biol Psychiatry (2011) 0.88
Recent adaptive selection at MAOB and ancestral susceptibility to schizophrenia. Am J Med Genet B Neuropsychiatr Genet (2009) 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
No evidence that major mtDNA European haplogroups confer risk to schizophrenia. Am J Med Genet B Neuropsychiatr Genet (2012) 0.85
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
Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes. PLoS One (2011) 0.83
Amniotic membrane as support for human retinal pigment epithelium (RPE) cell growth. Acta Ophthalmol Scand (2003) 0.83
Extensive linkage disequilibrium mapping at HTR2A and DRD3 for schizophrenia susceptibility genes in the Galician population. Schizophr Res (2006) 0.83
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
Abnormal cell cycle regulation in primary human uveal melanoma cultures. J Cell Biochem (2004) 0.82
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
Evolutionary dynamics of the Ty3/gypsy LTR retrotransposons in the genome of Anopheles gambiae. PLoS One (2011) 0.82
Pegvisomant-induced liver injury is related to the UGT1A1*28 polymorphism of Gilbert's syndrome. J Clin Endocrinol Metab (2010) 0.82
A hydrogen peroxide detoxification system in the nucleus of wheat seed cells: protection or signaling role? Plant Signal Behav (2009) 0.81
[Ménétrier's disease and gastric cancer]. Cir Esp (2007) 0.81
Relation of tumor necrosis factor (TNF) gene polymorphisms with serum concentrations and in vitro production of TNF-alpha and interleukin-8 in heavy drinkers. Alcohol (2005) 0.81
Testing the antagonistic pleiotropy model of schizophrenia susceptibility by analysis of DAOA, PPP1R1B, and APOL1 genes. Psychiatry Res (2010) 0.80
Analyses of variants located in estrogen metabolism genes (ESR1, ESR2, COMT and APOE) and schizophrenia. Schizophr Res (2007) 0.80
Nucleotide variation in central nervous system genes among male suicide attempters. Am J Med Genet B Neuropsychiatr Genet (2010) 0.80
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
Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism. Thyroid (2010) 0.79
Leydig Cell Testicular Tumour Presenting as Isosexual Precocious Pseudopuberty in a 5 Year-old Boy with No Palpable Testicular Mass. Clin Pediatr Endocrinol (2010) 0.78
Genetic epistasis in female suicide attempters. Prog Neuropsychopharmacol Biol Psychiatry (2012) 0.78
Exploring the binding of Pt drugs to gold nanoparticles for controlled passive release of cisplatin. J Control Release (2010) 0.78
Inhibition of Cdk4 activity enhances translation of p27kip1 in quiescent Rb-negative cells. J Biol Chem (2003) 0.78
The discoidin domain receptor 1 gene has a functional A2RE sequence. J Neurochem (2011) 0.77
Mitochondrial DNA (mtDNA) variants in the European haplogroups HV, JT, and U do not have a major role in schizophrenia. Am J Med Genet B Neuropsychiatr Genet (2014) 0.77
Severe hypertension and hypokalemia as first clinical manifestations in ectopic Cushing's syndrome. Arq Bras Endocrinol Metabol (2008) 0.77
A new chemical tool (C0036E08) supports the role of adenosine A(2B) receptors in mediating human mast cell activation. Biochem Pharmacol (2008) 0.76
Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant. BMC Genet (2010) 0.76
Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH. J Clin Res Pediatr Endocrinol (2011) 0.76
Influence of 17-Hydroxyprogesterone, Progesterone and Sex Steroids on Mineralocorticoid Receptor Transactivation in Congenital Adrenal Hyperplasia. Horm Res Paediatr (2015) 0.76
Liver enzyme levels in relation to a common polymorphism in the CD14 promoter gene. Eur J Gastroenterol Hepatol (2007) 0.75
[Giant cell arteritis with epididymal involvement]. Med Clin (Barc) (2009) 0.75
Neurodevelopment of very low birth weight infants in the first two years of life in a Havana tertiary care hospital. MEDICC Rev (2015) 0.75
Axonal neuropathy, long limbs and bumpy tongue: think of MEN2B. Muscle Nerve (2012) 0.75
Potential involvement of serotonin receptor genes with age of onset and gender in schizophrenia: a preliminary study in a Spanish sample. Psychiatry Res (2010) 0.75
Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: case report. Srp Arh Celok Lek (2015) 0.75
Lowering infant mortality in Cuba: Fernando Domínguez MD PhD. Neonatologist, Ramón González Coro University Maternity Hospital, Havana. MEDICC Rev (2015) 0.75