Published in J Clin Endocrinol Metab on January 08, 2008
Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib). Bone (2010) 1.04
Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib. Proc Natl Acad Sci U S A (2010) 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
Epigenetics and obesity. Pharmacogenomics (2008) 0.89
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects. J Med Genet (2009) 0.89
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
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
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
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
Pseudohypoparathyroidism type Ia manifesting as intractable epilepsy in a 23-year-old female. Int Med Case Rep J (2012) 0.80
Acrodysostosis syndromes. Bonekey Rep (2012) 0.80
Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib. Eur J Endocrinol (2010) 0.79
Gene Dosage Effects at the Imprinted Gnas Cluster. PLoS One (2013) 0.79
Non-Coding RNAs at the Gnas and Snrpn-Ube3a Imprinted Gene Loci and Their Involvement in Hereditary Disorders. Front Genet (2012) 0.78
Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth. J Clin Endocrinol Metab (2015) 0.78
Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus. PLoS One (2015) 0.78
Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues. Nat Rev Endocrinol (2016) 0.76
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects. Clin Epigenetics (2016) 0.76
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
EARLY-ONSET OBESITY: UNRECOGNIZED FIRST EVIDENCE FOR GNAS MUTATIONS AND METHYLATION CHANGES. J Clin Endocrinol Metab (2017) 0.75
Heterotrimeric G proteins in the control of parathyroid hormone actions. J Mol Endocrinol (2017) 0.75
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet (2003) 4.44
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet (2006) 3.16
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics (2013) 2.11
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet (2004) 1.68
Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood. J Clin Endocrinol Metab (2008) 1.15
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis. Hum Mutat (2007) 1.13
Distinct mRNA, protein expression patterns and distribution of oestrogen receptors alpha and beta in human primary breast cancer: correlation with proliferation marker Ki-67 and clinicopathological factors. Eur J Cancer (2005) 1.09
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab (2012) 1.08
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties. Eur J Hum Genet (2005) 1.07
Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab (2007) 1.01
GNAS -Related Loss-of-Function Disorders and the Role of Imprinting. Horm Res Paediatr (2013) 1.01
The LIM-homeodomain proteins Isl-1 and Lhx3 act with steroidogenic factor 1 to enhance gonadotrope-specific activity of the gonadotropin-releasing hormone receptor gene promoter. Mol Endocrinol (2006) 1.01
Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development. J Clin Endocrinol Metab (2013) 0.99
The significance of the expression of ERRalpha as a potential biomarker in breast cancer. J Steroid Biochem Mol Biol (2008) 0.99
Dental abnormalities in patients with familial hypophosphatemic vitamin D-resistant rickets: prevention by early treatment with 1-hydroxyvitamin D. J Pediatr (2003) 0.98
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib. J Med Genet (2010) 0.97
Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3. J Bone Miner Res (2006) 0.97
Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene. Fertil Steril (2002) 0.94
Near normalization of adult height and body proportions by growth hormone in pycnodysostosis. J Clin Endocrinol Metab (2010) 0.92
Primary hyperparathyroidism in pregnancy. Endocrine (2013) 0.91
MEPE-derived ASARM peptide inhibits odontogenic differentiation of dental pulp stem cells and impairs mineralization in tooth models of X-linked hypophosphatemia. PLoS One (2013) 0.91
Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations. J Pediatr (2013) 0.88
Multilocus methylation defects in imprinting disorders. Biomol Concepts (2015) 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
Gonadotrophic status in adolescents with pituitary stalk interruption syndrome. Clin Endocrinol (Oxf) (2008) 0.87
Gonadotropin-releasing hormone and the control of gonadotrope function. Reprod Nutr Dev (2005) 0.87
KiSS-1 and GPR54 at the pituitary level: overview and recent insights. Peptides (2008) 0.85
Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus. Ann N Y Acad Sci (2006) 0.84
Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. Pediatrics (2005) 0.84
A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene. Fertil Steril (2003) 0.83
The expression of aromatase in gonadotropes is regulated by estradiol and gonadotropin-releasing hormone in a manner that differs from the regulation of luteinizing hormone. Endocrinology (2006) 0.83
Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the tumor. Gynecol Endocrinol (2007) 0.82
Risk of corrected QT interval prolongation after pamidronate infusion in children. J Clin Endocrinol Metab (2010) 0.82
Major hyperestrogenism in a feminizing adrenocortical adenoma despite a moderate overexpression of the aromatase enzyme. Eur J Endocrinol (2003) 0.81
TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib). J Bone Miner Res (2015) 0.80
Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism. J Clin Endocrinol Metab (2014) 0.80
Vitamin D receptor genotype in hypophosphatemic rickets as a predictor of growth and response to treatment. J Clin Endocrinol Metab (2008) 0.79
Puberty in subjects with complete androgen insensitivity syndrome. Horm Res (2006) 0.79
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia. J Pediatr (2011) 0.79
Resistance to epinephrine and hypersensitivity (hyperresponsiveness) to CB1 antagonists in a patient with pseudohypoparathyroidism type Ic. Eur J Endocrinol (2010) 0.78
Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth. J Clin Endocrinol Metab (2015) 0.78
De novo 15q13.3 microdeletion with cryptogenic West syndrome. Am J Med Genet A (2013) 0.78
Aromatase gene expression and regulation in the female rat pituitary. Ann N Y Acad Sci (2006) 0.77
Macroprolactinomas in children and adolescents: factors associated with the response to treatment in 77 patients. J Clin Endocrinol Metab (2014) 0.77
Diagnosis and management of congenital hypothyroidism associated with pseudohypoparathyroidism. Horm Res Paediatr (2015) 0.75
Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population. Horm Res Paediatr (2016) 0.75
Magnetic Resonance Imaging Features as Surrogate Markers of X-Linked Hypophosphatemic Rickets Activity. Horm Res Paediatr (2017) 0.75
Lipoprotein lipase activity and common gene variants in severely hypertriglyceridemic patients with and without diabetes. Horm Res (2003) 0.75
Supernumerary marker chromosomes management in prenatal diagnosis. Am J Med Genet A (2008) 0.75
High frequency of X chromosome abnormalities in women with short stature and elevated liver enzymes. J Clin Endocrinol Metab (2014) 0.75
The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. Am J Med Genet A (2014) 0.75