Published in J Hum Genet on January 01, 2004
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest (2007) 3.20
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
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci U S A (2010) 2.10
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2010) 1.49
From nose to brain: development of gonadotrophin-releasing hormone-1 neurones. J Neuroendocrinol (2010) 1.25
Gonadotropin-releasing hormone (GnRH) neuron migration: initiation, maintenance and cessation as critical steps to ensure normal reproductive function. Front Neuroendocrinol (2010) 1.25
Expanding the phenotype and genotype of female GnRH deficiency. J Clin Endocrinol Metab (2011) 1.16
Genetic determinants of pubertal timing in the general population. Mol Cell Endocrinol (2010) 1.07
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons. Neuroendocrinology (2010) 1.06
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Fertil Steril (2011) 1.05
Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland. Orphanet J Rare Dis (2011) 1.04
New understandings of the genetic basis of isolated idiopathic central hypogonadism. Asian J Androl (2011) 0.96
Deciphering genetic disease in the genomic era: the model of GnRH deficiency. Sci Transl Med (2010) 0.94
Genetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genes. Int J Endocrinol (2011) 0.91
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR). J Clin Endocrinol Metab (2012) 0.86
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. Eur J Hum Genet (2011) 0.86
NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration. Mol Cell Endocrinol (2009) 0.85
CPDadh: a new peptidase family homologous to the cysteine protease domain in bacterial MARTX toxins. Protein Sci (2009) 0.84
Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome. J Clin Invest (2015) 0.84
Clinical assessment and genomic landscape of a consanguineous family with three Kallmann syndrome descendants. Asian J Androl (2010) 0.82
The kisspeptin signaling pathway and its role in human isolated GnRH deficiency. Mol Cell Endocrinol (2011) 0.81
Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era. Endocr Rev (2015) 0.81
A Jacob/Nsmf Gene Knockout Results in Hippocampal Dysplasia and Impaired BDNF Signaling in Dendritogenesis. PLoS Genet (2016) 0.78
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
Biochemical and MRI findings of Kallmann's syndrome. BMJ Case Rep (2014) 0.75
What do we learn from the murine Jacob/Nsmf gene knockout for human disease? Rare Dis (2016) 0.75
Differential expression of nasal embryonic LHRH factor (NELF) variants in immortalized GnRH neuronal cell lines. Mol Cell Endocrinol (2013) 0.75
Central hypogonadotropic hypogonadism: genetic complexity of a complex disease. Int J Endocrinol (2014) 0.75
Commentary: the year in endocrine genetics for basic scientists. Mol Endocrinol (2011) 0.75
The consequences of mutations in the reproductive endocrine system. Balsaenggwa Saengsig (2012) 0.75
The GPR54 gene as a regulator of puberty. N Engl J Med (2003) 9.54
Increased hypothalamic GPR54 signaling: a potential mechanism for initiation of puberty in primates. Proc Natl Acad Sci U S A (2005) 3.16
Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice. Endocrinology (2007) 2.75
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
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci U S A (2010) 2.10
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet (2005) 1.94
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
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
Redundancy in Kiss1 expression safeguards reproduction in the mouse. Endocrinology (2013) 1.49
Neurokinin B is critical for normal timing of sexual maturation but dispensable for adult reproductive function in female mice. Endocrinology (2015) 1.45
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
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
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
Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred. J Clin Endocrinol Metab (2002) 1.20
Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Hum Mol Genet (2013) 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
Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men. Endocrinology (2012) 1.15
Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system. J Clin Endocrinol Metab (2013) 1.13
A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4. Am J Hum Genet (2003) 1.10
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. J Clin Endocrinol Metab (2013) 1.09
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons. Neuroendocrinology (2010) 1.06
Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism. Eur J Endocrinol (2006) 1.05
Kisspeptin resets the hypothalamic GnRH clock in men. J Clin Endocrinol Metab (2011) 1.05
Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54. Mol Cell Endocrinol (2006) 1.01
Kisspeptin administration to women: a window into endogenous kisspeptin secretion and GnRH responsiveness across the menstrual cycle. J Clin Endocrinol Metab (2012) 0.96
Deciphering genetic disease in the genomic era: the model of GnRH deficiency. Sci Transl Med (2010) 0.94
GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone. J Clin Endocrinol Metab (2004) 0.93
Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications. J Clin Endocrinol Metab (2011) 0.92
GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1. J Clin Endocrinol Metab (2011) 0.92
LC-MS/MS quantification of a neuropeptide fragment kisspeptin-10 (NSC 741805) and characterization of its decomposition product and pharmacokinetics in rats. J Chromatogr B Analyt Technol Biomed Life Sci (2013) 0.90
The integrated hypothalamic tachykinin-kisspeptin system as a central coordinator for reproduction. Endocrinology (2014) 0.90
Four naturally occurring mutations in the human GnRH receptor affect ligand binding and receptor function. Mol Cell Endocrinol (2003) 0.90
Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes. J Clin Endocrinol Metab (2003) 0.90
Implantation failure in female Kiss1-/- mice is independent of their hypogonadic state and can be partially rescued by leukemia inhibitory factor. Endocrinology (2014) 0.87
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR). J Clin Endocrinol Metab (2012) 0.86
Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and men. Peptides (2008) 0.86
Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders. Arq Bras Endocrinol Metabol (2012) 0.85
The kisspeptin signaling pathway and its role in human isolated GnRH deficiency. Mol Cell Endocrinol (2011) 0.81
A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab (2015) 0.81
Human genetics of GPR54. Rev Endocr Metab Disord (2007) 0.81
Interplay between dose and frequency of GnRH administration in determining pituitary gonadotropin responsiveness. Neuroendocrinology (2007) 0.80
Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1. Horm Res Paediatr (2010) 0.80
Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans. BMC Genomics (2002) 0.78
A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3. J Clin Endocrinol Metab (2003) 0.78
TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients. FASEB J (2013) 0.78
We all remember our first kiss: kisspeptin and the male gonadal axis. J Clin Endocrinol Metab (2005) 0.78
Kisspeptin and the hypothalamic control of reproduction: lessons from the human. Endocrinology (2012) 0.78
Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease. Exp Physiol (2013) 0.77
Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab (2014) 0.77
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
β-Klotho deficiency protects against obesity through a crosstalk between liver, microbiota, and brown adipose tissue. JCI Insight (2017) 0.75
Fatness and fertility: which direction? J Clin Invest (2014) 0.75
Lack of association of hypogonadotropic genes with age at menarche: prospects for the future. J Clin Endocrinol Metab (2008) 0.75
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet (2017) 0.75