| scholarly article | Q13442814 |
| P356 | DOI | 10.1210/JC.2009-0179 |
| P8608 | Fatcat ID | release_bjtmss6pgzhttp2cq2wamhycze |
| P932 | PMC publication ID | 2775659 |
| P698 | PubMed publication ID | 19820032 |
| P5875 | ResearchGate publication ID | 26885791 |
| P50 | author | Taneli Raivio | Q30347924 |
| Moosa Mohammadi | Q37382162 | ||
| Andrew A Dwyer | Q50423876 | ||
| Nelly Pitteloud | Q88221528 | ||
| Richard Quinton | Q90569845 | ||
| Elka Jacobson-Dickman | Q106489349 | ||
| Lacey Plummer | Q106489974 | ||
| Guy Van Vliet | Q112075351 | ||
| Yisrael Sidis | Q114419631 | ||
| Huaibin Chen | Q114419645 | ||
| Helene Lavoie | Q114419646 | ||
| P2093 | author name string | Frances J Hayes | |
| Jinghong Ma | |||
| Ursula B Kaiser | |||
| Susan Sparks | |||
| Abir Mukherjee | |||
| Shuyun Xu | |||
| Virginia A Hughes | |||
| P2860 | cites work | Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2 | Q21092497 |
| Crystal structure of a ternary FGF-FGFR-heparin complex reveals a dual role for heparin in FGFR binding and dimerization | Q24290400 | ||
| Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice | Q24309428 | ||
| A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules | Q24311797 | ||
| Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome | Q24657612 | ||
| Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1 | Q24673321 | ||
| Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism | Q24675675 | ||
| Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54 | Q24685744 | ||
| A Molecular Brake in the Kinase Hinge Region Regulates the Activity of Receptor Tyrosine Kinases | Q27647832 | ||
| Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism | Q27733279 | ||
| The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules | Q28118633 | ||
| The GPR54 gene as a regulator of puberty | Q28211950 | ||
| Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis | Q28277862 | ||
| NMR structure of the first Ig module of mouse FGFR1 | Q30159788 | ||
| Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism | Q30442563 | ||
| Identical twins discordant for Kallmann's syndrome | Q33597467 | ||
| Protein glucosylation and its role in protein folding | Q34019347 | ||
| Quality control of mRNA function | Q34156109 | ||
| Sex differences in odor identification ability: a cross-cultural analysis | Q34200570 | ||
| A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor | Q34446712 | ||
| Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes | Q34568239 | ||
| Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism | Q34597433 | ||
| TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction | Q34902985 | ||
| Structural basis for fibroblast growth factor receptor activation | Q36111391 | ||
| A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism | Q36697937 | ||
| Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. | Q36938312 | ||
| Fibroblast growth factor 8 signaling through fibroblast growth factor receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons. | Q36972716 | ||
| Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome. | Q37012242 | ||
| Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization. | Q38297297 | ||
| Point mutation in FGF receptor eliminates phosphatidylinositol hydrolysis without affecting mitogenesis | Q38326603 | ||
| Hypogonadotropic disorders in men and women: diagnosis and therapy with pulsatile gonadotropin-releasing hormone | Q39588133 | ||
| Regulation of cytokine receptors by Golgi N-glycan processing and endocytosis. | Q40508811 | ||
| The rat osteocalcin fibroblast growth factor (FGF)-responsive element: an okadaic acid-sensitive, FGF-selective transcriptional response motif | Q41178871 | ||
| Role of the extracellular regions of the parathyroid hormone (PTH)/PTH-related peptide receptor in hormone binding | Q41441064 | ||
| The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor | Q43633820 | ||
| Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene | Q44022898 | ||
| GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone | Q44968726 | ||
| Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. | Q47998798 | ||
| FGF signaling through FGFR1 is required for olfactory bulb morphogenesis | Q48394629 | ||
| Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group | Q48771295 | ||
| Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome | Q50336618 | ||
| Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome. | Q52561443 | ||
| Reversal of idiopathic hypogonadotropic hypogonadism | Q55847307 | ||
| Induction of urokinase-type plasminogen activator by fibroblast growth factor (FGF)-2 is dependent on expression of FGF receptors and does not require activation of phospholipase Cgamma1 | Q57947452 | ||
| Novel Fibroblast Growth Factor Receptor 1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism with and without Anosmia | Q60677985 | ||
| Cell type and tissue distribution of the fibroblast growth factor receptor | Q69349224 | ||
| Characterization of pp60c-src Tyrosine Kinase Activities Using a Continuous Assay: Autoactivation of the Enzyme Is an Intermolecular Autophosphorylation Process | Q71786430 | ||
| Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism | Q73739026 | ||
| Free alpha-subunit is superior to luteinizing hormone as a marker of gonadotropin-releasing hormone despite desensitization at fast pulse frequencies | Q74619301 | ||
| The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism | Q77481466 | ||
| Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations | Q77481731 | ||
| Heterogeneity of Kallmann's syndrome | Q93612663 | ||
| P433 | issue | 11 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | hypogonadism | Q938107 |
| hypogonadotropic hypogonadism | Q30990102 | ||
| P304 | page(s) | 4380-4390 | |
| P577 | publication date | 2009-10-09 | |
| P1433 | published in | The Journal of Clinical Endocrinology and Metabolism | Q3186902 |
| P1476 | title | Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism | |
| P478 | volume | 94 |
| Q24613193 | A genetic basis for functional hypothalamic amenorrhea |
| Q35442176 | A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism |
| Q40706883 | Bone involvement in males with Kallmann disease |
| Q30848681 | Combined pituitary hormone deficiency: current and future status |
| Q35602910 | Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. |
| Q87993928 | Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era |
| Q36433718 | Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era. |
| Q30426059 | Disease-causing mutation in extracellular and intracellular domain of FGFR1 protein: computational approach |
| Q37336121 | Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome |
| Q28386577 | Expanding the phenotype and genotype of female GnRH deficiency |
| Q35458207 | FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies |
| Q34632015 | Fibroblast growth factor signaling in the developing neuroendocrine hypothalamus |
| Q36100642 | Genetic Overlap between Holoprosencephaly and Kallmann Syndrome. |
| Q89687374 | Genetic causes of hypopituitarism |
| Q30439081 | Genetic rescue of Muenke syndrome model hearing loss reveals prolonged FGF-dependent plasticity in cochlear supporting cell fates |
| Q48240276 | Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism. |
| Q24307650 | Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism |
| Q35126506 | Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland |
| Q41889886 | KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism |
| Q24337453 | Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1 |
| Q26770529 | MANAGEMENT OF ENDOCRINE DISEASE: Reversible hypogonadotropic hypogonadism |
| Q37060756 | Molecular basis for the Kallmann syndrome-linked fibroblast growth factor receptor mutation. |
| Q34342881 | Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism |
| Q34093958 | Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. |
| Q36760693 | PROK2/PROKR2 Signaling and Kallmann Syndrome. |
| Q38822960 | Perspectives in Pediatric Pathology, Chapter 18. Hypogonadotropic Hypogonadisms. Pediatric and Pubertal Presentations |
| Q36589407 | Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism |
| Q34397759 | Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system. |
| Q21134513 | Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations |
| Q35256026 | Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction |
| Q40167352 | Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians |
| Q36613472 | The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome |
| Q49437047 | Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism |
| Q36283451 | Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys. |
| Q37187461 | Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease |
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