Published in J Clin Endocrinol Metab on January 08, 2010
Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research. J Bone Miner Res (2011) 2.30
An update on the clinical and molecular characteristics of pseudohypoparathyroidism. Curr Opin Endocrinol Diabetes Obes (2012) 1.20
Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib). Bone (2010) 1.04
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders. Hum Mutat (2014) 1.02
Brachydactyly E: isolated or as a feature of a syndrome. Orphanet J Rare Dis (2013) 0.94
Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib? J Bone Miner Res (2011) 0.92
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. PLoS One (2012) 0.89
Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis. Eur J Endocrinol (2010) 0.88
De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases. J Clin Endocrinol Metab (2012) 0.88
Madelung-like deformity in pseudohypoparathyroidism type 1b. J Clin Endocrinol Metab (2011) 0.87
Clinical utility gene card for: pseudohypoparathyroidism. Eur J Hum Genet (2012) 0.87
GNAS Spectrum of Disorders. Curr Osteoporos Rep (2015) 0.87
Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib. Proc Natl Acad Sci U S A (2012) 0.87
The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene. Horm Res Paediatr (2013) 0.85
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study. Eur J Hum Genet (2014) 0.83
A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene. Mol Genet Genomic Med (2014) 0.81
TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib). J Bone Miner Res (2015) 0.80
Pseudohypoparathyroidism type Ia manifesting as intractable epilepsy in a 23-year-old female. Int Med Case Rep J (2012) 0.80
A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism. J Bone Miner Res (2015) 0.80
Gene Dosage Effects at the Imprinted Gnas Cluster. PLoS One (2013) 0.79
A naturally occurring isoform inhibits parathyroid hormone receptor trafficking and signaling. J Bone Miner Res (2011) 0.79
Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth. J Clin Endocrinol Metab (2015) 0.78
Non-Coding RNAs at the Gnas and Snrpn-Ube3a Imprinted Gene Loci and Their Involvement in Hereditary Disorders. Front Genet (2012) 0.78
Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus. PLoS One (2015) 0.78
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects. Clin Epigenetics (2016) 0.76
Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues. Nat Rev Endocrinol (2016) 0.76
A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia. Clin Pediatr Endocrinol (2011) 0.75
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption. Ital J Pediatr (2016) 0.75
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b. Eur J Hum Genet (2014) 0.75
An Update on Molecular Diagnostic Testing of Human Imprinting Disorders. J Pediatr Genet (2016) 0.75
A patient with features of albright hereditory osteodystrophy and unusual neuropsychiatric findings without coding Gsalpha mutations. J Diabetes Metab Disord (2014) 0.75
Heterotrimeric G proteins in the control of parathyroid hormone actions. J Mol Endocrinol (2017) 0.75
EARLY-ONSET OBESITY: UNRECOGNIZED FIRST EVIDENCE FOR GNAS MUTATIONS AND METHYLATION CHANGES. J Clin Endocrinol Metab (2017) 0.75
Falling too Fahr. J Neurol (2012) 0.75
Rapid DNA methylation changes after exposure to traffic particles. Am J Respir Crit Care Med (2009) 5.20
Effects of particulate matter on genomic DNA methylation content and iNOS promoter methylation. Environ Health Perspect (2008) 3.85
Epigenetics and environmental chemicals. Curr Opin Pediatr (2009) 2.83
Predictors of global methylation levels in blood DNA of healthy subjects: a combined analysis. Int J Epidemiol (2010) 2.34
Global DNA hypomethylation is associated with high serum-persistent organic pollutants in Greenlandic Inuit. Environ Health Perspect (2008) 2.29
SOX2 anophthalmia syndrome. Am J Med Genet A (2005) 2.24
Ischemic heart disease and stroke in relation to blood DNA methylation. Epidemiology (2010) 2.10
Cortisol secretion in patients with type 2 diabetes: relationship with chronic complications. Diabetes Care (2007) 1.97
Eukaryotic initiation factor 6 is rate-limiting in translation, growth and transformation. Nature (2008) 1.85
Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure. J Clin Endocrinol Metab (2006) 1.81
BRAF mutations in an Italian cohort of thyroid cancers. Clin Endocrinol (Oxf) (2004) 1.75
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. J Am Soc Nephrol (2002) 1.73
Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am J Hum Genet (2004) 1.72
High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. Eur J Endocrinol (2011) 1.69
Beneficial metabolic effects of prompt surgical treatment in patients with an adrenal incidentaloma causing biochemical hypercortisolism. J Clin Endocrinol Metab (2010) 1.69
Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab (2002) 1.68
Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene. J Clin Endocrinol Metab (2003) 1.67
The gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab (2002) 1.67
Blood leukocyte DNA hypomethylation and gastric cancer risk in a high-risk Polish population. Int J Cancer (2010) 1.67
Global and gene-specific promoter methylation changes are related to anti-B[a]PDE-DNA adduct levels and influence micronuclei levels in polycyclic aromatic hydrocarbon-exposed individuals. Int J Cancer (2009) 1.59
Biomarkers of lead exposure and DNA methylation within retrotransposons. Environ Health Perspect (2010) 1.58
Circulating levels of ghrelin in human fetuses. Eur J Endocrinol (2003) 1.52
Ghrelin and adiponectin in patients with Cushing's disease before and after successful transsphenoidal surgery. Clin Endocrinol (Oxf) (2005) 1.51
Risk of new vertebral fractures in patients with adrenal incidentaloma with and without subclinical hypercortisolism: a multicenter longitudinal study. J Bone Miner Res (2011) 1.50
A novel tyrosine-kinase selective inhibitor, sunitinib, induces transient hypothyroidism by blocking iodine uptake. J Clin Endocrinol Metab (2007) 1.47
A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). Clin Endocrinol (Oxf) (2009) 1.45
Accuracy of several parameters of hypothalamic-pituitary-adrenal axis activity in predicting before surgery the metabolic effects of the removal of an adrenal incidentaloma. Eur J Endocrinol (2010) 1.44
Influence of the d3GH receptor polymorphism on the metabolic and biochemical phenotype of GH-deficient adults at baseline and during short- and long-term recombinant human GH replacement therapy. Eur J Endocrinol (2010) 1.42
The therapeutic outcome to intravenous steroid therapy for active Graves' orbitopathy is influenced by the time of response but not polymorphisms of the glucocorticoid receptor. Eur J Endocrinol (2013) 1.42
Stress-related methylation of the catechol-O-methyltransferase Val 158 allele predicts human prefrontal cognition and activity. J Neurosci (2011) 1.41
Inhibitors of apoptosis proteins (IAPs) expression and their prognostic significance in hepatocellular carcinoma. BMC Cancer (2009) 1.40
Treatment of Graves' disease and associated ophthalmopathy with the anti-CD20 monoclonal antibody rituximab: an open study. Eur J Endocrinol (2007) 1.35
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet (2012) 1.34
Epigenetics and lifestyle. Epigenomics (2011) 1.34
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. J Clin Invest (2010) 1.33
Repetitive element hypomethylation in blood leukocyte DNA and cancer incidence, prevalence, and mortality in elderly individuals: the Normative Aging Study. Cancer Causes Control (2010) 1.30
Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance. Hum Mol Genet (2005) 1.30
Fetal microchimerism as an explanation of disease. Nat Rev Endocrinol (2010) 1.29
Metabolic stress regulates cytoskeletal dynamics and metastasis of cancer cells. J Clin Invest (2013) 1.28
Up-regulation of focal adhesion kinase in non-small cell lung cancer. Lung Cancer (2006) 1.27
Maternal and foetal resistin and adiponectin concentrations in normal and complicated pregnancies. Clin Endocrinol (Oxf) (2007) 1.26
Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. J Clin Endocrinol Metab (2010) 1.24
Inhalable metal-rich air particles and histone H3K4 dimethylation and H3K9 acetylation in a cross-sectional study of steel workers. Environ Health Perspect (2011) 1.24
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab (2003) 1.23
MicroRNA profiling of hepatocarcinogenesis identifies C19MC cluster as a novel prognostic biomarker in hepatocellular carcinoma. Liver Int (2012) 1.18
Long-term follow-up study of patients with adrenal incidentalomas. Eur J Endocrinol (2002) 1.17
LINE-1 methylation in plasma DNA as a biomarker of activity of DNA methylation inhibitors in patients with solid tumors. Epigenetics (2009) 1.17
Control of tumor bioenergetics and survival stress signaling by mitochondrial HSP90s. Cancer Cell (2012) 1.17
The tight relationship between papillary thyroid cancer, autoimmunity and inflammation: clinical and molecular studies. Clin Endocrinol (Oxf) (2010) 1.17
Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. J Clin Endocrinol Metab (2002) 1.16
Mutations in the Gs alpha gene causing hormone resistance. Best Pract Res Clin Endocrinol Metab (2006) 1.15
Fetal cell microchimerism in papillary thyroid cancer: studies in peripheral blood and tissues. Int J Cancer (2010) 1.14
Biallelic expression of the Gsalpha gene in human bone and adipose tissue. J Clin Endocrinol Metab (2004) 1.14
Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. J Mol Endocrinol (2009) 1.14
MicroRNAs as potential signatures of environmental exposure or effect: a systematic review. Environ Health Perspect (2015) 1.13
Comparison of calcium and pentagastrin tests for the diagnosis and follow-up of medullary thyroid cancer. J Clin Endocrinol Metab (2011) 1.11
Carcinosarcoma of the colon: report of a case with morphological, ultrastructural and molecular analysis. BMC Cancer (2006) 1.11
Pregnancy outcome after cabergoline treatment in early weeks of gestation. Reprod Toxicol (2002) 1.09
Stimulatory effects of ghrelin on circulating somatostatin and pancreatic polypeptide levels. J Clin Endocrinol Metab (2003) 1.09
Adjustment of L-T4 substitutive therapy in pregnant women with subclinical, overt or post-ablative hypothyroidism. Clin Endocrinol (Oxf) (2008) 1.07
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. Pediatr Res (2002) 1.06
Efficacy of B-cell targeted therapy with rituximab in patients with active moderate to severe Graves' orbitopathy: a randomized controlled study. J Clin Endocrinol Metab (2014) 1.06
Biological and clinical relevance of quantitative global methylation of repetitive DNA sequences in chronic lymphocytic leukemia. Epigenetics (2011) 1.05
A family with complete resistance to thyrotropin-releasing hormone. N Engl J Med (2009) 1.05
Increased mitochondrial DNA copy number in occupations associated with low-dose benzene exposure. Environ Health Perspect (2011) 1.02
Different responses to chronic somatostatin analogues in patients with central hyperthyroidism. Clin Endocrinol (Oxf) (2005) 1.02
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. J Clin Endocrinol Metab (2006) 1.02
Mechanisms of disease: Mutations of G proteins and G-protein-coupled receptors in endocrine diseases. Nat Clin Pract Endocrinol Metab (2006) 1.01
Shorter telomere length in peripheral blood lymphocytes of workers exposed to polycyclic aromatic hydrocarbons. Carcinogenesis (2009) 1.01
Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab (2007) 1.01
Non-functioning pituitary adenoma database: a useful resource to improve the clinical management of pituitary tumors. Eur J Endocrinol (2006) 1.01
DNA methylation differences in exposed workers and nearby residents of the Ma Ta Phut industrial estate, Rayong, Thailand. Int J Epidemiol (2012) 1.01
BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. Hum Mutat (2009) 1.00
Frequent association between MEN 2A and cutaneous lichen amyloidosis. Clin Endocrinol (Oxf) (2003) 1.00
Efficacy of rituximab treatment for thyroid-associated ophthalmopathy as a result of intraorbital B-cell depletion in one patient unresponsive to steroid immunosuppression. Eur J Endocrinol (2006) 1.00
Proliferation of transformed somatotroph cells related to low or absent expression of protein kinase a regulatory subunit 1A protein. Cancer Res (2004) 0.99
Rituximab treatment in a patient with severe thyroid-associated ophthalmopathy: effects on orbital lymphocytic infiltrates. Clin Immunol (2009) 0.99
Bone mineral density, prevalence of vertebral fractures, and bone quality in patients with adrenal incidentalomas with and without subclinical hypercortisolism: an Italian multicenter study. J Clin Endocrinol Metab (2009) 0.99
Fetal cell microchimerism in papillary thyroid cancer: a possible role in tumor damage and tissue repair. Cancer Res (2008) 0.98