scholarly article | Q13442814 |
P356 | DOI | 10.1093/HUMREP/DEW073 |
P698 | PubMed publication ID | 27094476 |
P50 | author | Thierry Brue | Q40173582 |
Séverine Trabado | Q57002857 | ||
Jacques Young | Q79281866 | ||
P2093 | author name string | Bruno Francou | |
Larbi Amazit | |||
Sylvie Brailly-Tabard | |||
Anne Guiochon-Mantel | |||
Jérôme Bouligand | |||
Philippe Chanson | |||
Charlotte Paul | |||
Claire Bouvattier | |||
Dominique Maiter | |||
Alejandra Cartes | |||
Frédérique Albarel | |||
P2860 | cites work | Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations | Q21134513 |
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54 | Q24685744 | ||
The GPR54 gene as a regulator of puberty | Q28211950 | ||
Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling | Q28484094 | ||
Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation | Q28485191 | ||
Approach to the Male Patient with Congenital Hypogonadotropic Hypogonadism | Q30047648 | ||
Regulation of SRC-3 intercompartmental dynamics by estrogen receptor and phosphorylation | Q30480773 | ||
PRR repeats in the intracellular domain of KISS1R are important for its export to cell membrane. | Q33633147 | ||
Regulation of GPR54 signaling by GRK2 and {beta}-arrestin | Q33642051 | ||
Kallmann's syndrome: is it always for life? | Q33872650 | ||
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood | Q33984838 | ||
Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations | Q34059565 | ||
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. | Q34093958 | ||
Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay. | Q34112165 | ||
Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism. | Q34225321 | ||
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism | Q34342881 | ||
KISS1R signals independently of Gαq/11 and triggers LH secretion via the β-arrestin pathway in the male mouse | Q34343082 | ||
Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system. | Q34397759 | ||
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor | Q34446712 | ||
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction | Q34902985 | ||
R31C GNRH1 mutation and congenital hypogonadotropic hypogonadism | Q34920649 | ||
Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate | Q35833400 | ||
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR). | Q36201503 | ||
Computational Analysis of Missense Variants of G Protein-Coupled Receptors Involved in the Neuroendocrine Regulation of Reproduction | Q36385294 | ||
Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism | Q36405998 | ||
Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders | Q37017449 | ||
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism | Q37261655 | ||
Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships | Q37704009 | ||
Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism. | Q42674514 | ||
TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans | Q43145611 | ||
Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. | Q45187029 | ||
Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. | Q45964826 | ||
Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report. | Q46506236 | ||
The role of kisspeptin-GPR54 signaling in the tonic regulation and surge release of gonadotropin-releasing hormone/luteinizing hormone. | Q46918321 | ||
The KiSS-1 receptor GPR54 is essential for the development of the murine reproductive system | Q47346849 | ||
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families. | Q51110573 | ||
A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia. | Q51338070 | ||
A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family. | Q51522144 | ||
Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism. | Q51778413 | ||
Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54. | Q51801286 | ||
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. | Q55067328 | ||
Inactivating KISS1 mutation and hypogonadotropic hypogonadism | Q55671569 | ||
Reversal of idiopathic hypogonadotropic hypogonadism | Q55847307 | ||
A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism | Q57632449 | ||
P433 | issue | 6 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | congenital disorder | Q727096 |
hypogonadism | Q938107 | ||
P304 | page(s) | 1363-1374 | |
P577 | publication date | 2016-04-19 | |
P1433 | published in | Human Reproduction | Q5937357 |
P1476 | title | Prevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study | |
P478 | volume | 31 |
Q92311486 | An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family |
Q52407086 | Conformational Change in the Ligand-Binding Pocket via a KISS1R Mutation (P147L) Leads to Isolated Gonadotropin-Releasing Hormone Deficiency. |
Q49026861 | Congenital Hypogonadotropic Hypogonadism and Constitutional Delay of Growth and Puberty Have Distinct Genetic Architectures |
Q89341662 | Contrôle de l’axe gonadotrope : nouveaux aspects physiologiques et thérapeutiques: Control of the gonadotrope axis: new physiologic and therapeutic aspects |
Q90569848 | Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease |
Q64039728 | Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel Loss-of-Function Mutation |
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