Published in J Clin Endocrinol Metab on July 01, 2004
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab (2009) 1.22
Expanding the phenotype and genotype of female GnRH deficiency. J Clin Endocrinol Metab (2011) 1.16
Pharmacological chaperones for misfolded gonadotropin-releasing hormone receptors. Adv Pharmacol (2011) 0.91
Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay. Fertil Steril (2014) 0.89
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. J Clin Res Pediatr Endocrinol (2012) 0.87
G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease. Mol Cell Endocrinol (2011) 0.87
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR). J Clin Endocrinol Metab (2012) 0.86
Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling. PLoS One (2012) 0.85
Computational Analysis of Missense Variants of G Protein-Coupled Receptors Involved in the Neuroendocrine Regulation of Reproduction. Neuroendocrinology (2015) 0.80
Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations. Front Horm Res (2010) 0.79
Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism. J Clin Endocrinol Metab (2013) 0.76
A phenotypic high throughput screening assay for the identification of pharmacoperones for the gonadotropin releasing hormone receptor. Assay Drug Dev Technol (2014) 0.76
Lutropin alpha, recombinant human luteinizing hormone, for the stimulation of follicular development in profoundly LH-deficient hypogonadotropic hypogonadal women: a review. Biologics (2009) 0.75
The Novel Actions of the Metabolite GnRH-(1-5) are Mediated by a G Protein-Coupled Receptor. Front Endocrinol (Lausanne) (2013) 0.75
Central challenges facing the national clinical research enterprise. JAMA (2003) 17.41
The GPR54 gene as a regulator of puberty. N Engl J Med (2003) 9.54
Loss of 5-hydroxymethylcytosine is an epigenetic hallmark of melanoma. Cell (2012) 4.04
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest (2007) 3.20
Increased hypothalamic GPR54 signaling: a potential mechanism for initiation of puberty in primates. Proc Natl Acad Sci U S A (2005) 3.16
Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med (2013) 3.04
Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice. Endocrinology (2007) 2.75
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. J Clin Invest (2008) 2.69
Reversal of idiopathic hypogonadotropic hypogonadism. N Engl J Med (2007) 2.54
A GPR54-activating mutation in a patient with central precocious puberty. N Engl J Med (2008) 2.53
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. J Clin Endocrinol Metab (2010) 2.50
Neurokinin B stimulates GnRH release in the male monkey (Macaca mulatta) and is colocalized with kisspeptin in the arcuate nucleus. Endocrinology (2010) 2.40
Postmenopausal hormone therapy: an Endocrine Society scientific statement. J Clin Endocrinol Metab (2010) 2.27
Executive summary of the Stages of Reproductive Aging Workshop + 10: addressing the unfinished agenda of staging reproductive aging. J Clin Endocrinol Metab (2012) 2.25
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A (2007) 2.23
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci U S A (2010) 2.10
Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease. Traffic (2004) 2.05
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet (2005) 1.94
Vasomotor symptoms are associated with depression in perimenopausal women seeking primary care. Menopause (2002) 1.92
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. J Clin Endocrinol Metab (2008) 1.92
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A (2006) 1.87
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism. Nat Rev Endocrinol (2009) 1.81
Tet3 CXXC domain and dioxygenase activity cooperatively regulate key genes for Xenopus eye and neural development. Cell (2012) 1.76
Human LSD2/KDM1b/AOF1 regulates gene transcription by modulating intragenic H3K4me2 methylation. Mol Cell (2010) 1.73
Hormone therapy: physiological complexity belies therapeutic simplicity. Science (2004) 1.68
Depression is associated with worse objectively and subjectively measured sleep, but not more frequent awakenings, in women with vasomotor symptoms. Menopause (2009) 1.67
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. Mol Cell Endocrinol (2006) 1.62
Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene. J Clin Endocrinol Metab (2004) 1.57
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med (2013) 1.56
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A (2009) 1.55
Adverse effects of induced hot flashes on objectively recorded and subjectively reported sleep: results of a gonadotropin-releasing hormone agonist experimental protocol. Menopause (2013) 1.54
Use of informatics and information technologies in the clinical research enterprise within US academic medical centers: progress and challenges from 2005 to 2007. J Investig Med (2008) 1.49
Redundancy in Kiss1 expression safeguards reproduction in the mouse. Endocrinology (2013) 1.49
Rescue of hypogonadotropic hypogonadism-causing and manufactured GnRH receptor mutants by a specific protein-folding template: misrouted proteins as a novel disease etiology and therapeutic target. J Clin Endocrinol Metab (2002) 1.46
Neurokinin B is critical for normal timing of sexual maturation but dispensable for adult reproductive function in female mice. Endocrinology (2015) 1.45
Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry. J Clin Endocrinol Metab (2012) 1.44
Development of a phenotypic high-content assay to identify pharmacoperone drugs for the treatment of primary hyperoxaluria type 1 by high-throughput screening. Assay Drug Dev Technol (2015) 1.41
Executive summary of the Stages of Reproductive Aging Workshop + 10: addressing the unfinished agenda of staging reproductive aging. Menopause (2012) 1.35
The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab (2002) 1.33
Effect of continuous intravenous administration of human metastin 45-54 on the neuroendocrine activity of the hypothalamic-pituitary-testicular axis in the adult male rhesus monkey (Macaca mulatta). Endocrinology (2007) 1.33
Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). J Hum Genet (2004) 1.32
Translation of basic research into useful treatments: how often does it occur? Am J Med (2003) 1.30
Inverse relationship between luteinizing hormone and body mass index in polycystic ovarian syndrome: investigation of hypothalamic and pituitary contributions. J Clin Endocrinol Metab (2006) 1.30
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genet (2013) 1.26
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. Proc Natl Acad Sci U S A (2011) 1.26
Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab (2002) 1.26
Structure-activity relations of successful pharmacologic chaperones for rescue of naturally occurring and manufactured mutants of the gonadotropin-releasing hormone receptor. J Pharmacol Exp Ther (2003) 1.26
Polycystic ovarian morphology with regular ovulatory cycles: insights into the pathophysiology of polycystic ovarian syndrome. J Clin Endocrinol Metab (2004) 1.25
Evidence from the agonadal juvenile male rhesus monkey (Macaca mulatta) for the view that the action of neurokinin B to trigger gonadotropin-releasing hormone release is upstream from the kisspeptin receptor. Neuroendocrinology (2011) 1.24
A genetic basis for functional hypothalamic amenorrhea. N Engl J Med (2011) 1.24
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab (2009) 1.22
Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred. J Clin Endocrinol Metab (2002) 1.20
Cis- and trans-activation of hormone receptors: the LH receptor. Mol Endocrinol (2002) 1.18
Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Hum Mol Genet (2013) 1.17
Reproductive hormone-dependent and -independent contributions to developmental changes in kisspeptin in GnRH-deficient hypogonadal mice. PLoS One (2010) 1.17
Human loss-of-function gonadotropin-releasing hormone receptor mutants retain wild-type receptors in the endoplasmic reticulum: molecular basis of the dominant-negative effect. Mol Endocrinol (2004) 1.17
Regulation of G protein-coupled receptor trafficking by inefficient plasma membrane expression: molecular basis of an evolved strategy. J Biol Chem (2006) 1.17
The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations. Endocr Rev (2010) 1.16
Expanding the phenotype and genotype of female GnRH deficiency. J Clin Endocrinol Metab (2011) 1.16
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. Brain (2013) 1.15
Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men. Endocrinology (2012) 1.15
The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism. Neuroendocrinology (2010) 1.15
Executive summary of the Stages of Reproductive Aging Workshop +10: addressing the unfinished agenda of staging reproductive aging. Climacteric (2012) 1.14
Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system. J Clin Endocrinol Metab (2013) 1.13