about
Mutations of the KISS1 gene in disorders of pubertyA new pathway in the control of the initiation of puberty: the MKRN3 geneMicroRNA era: the importance for diagnosis and prognosis of adrenocortical tumorsHigh Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.New digital tool to facilitate subcutaneous insulin therapy orders: an inpatient insulin dose calculator.Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene.Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.Naturally occurring mutations of the luteinizing-hormone receptor: lessons learned about reproductive physiology and G protein-coupled receptors.A GPR54-activating mutation in a patient with central precocious puberty.Familial hyperestrogenism in both sexes: clinical, hormonal, and molecular studies of two siblings.TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthoodAmplification of the insulin-like growth factor 1 receptor gene is a rare event in adrenocortical adenocarcinomas: searching for potential mechanisms of overexpressionRole of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadismCentral precocious puberty caused by mutations in the imprinted gene MKRN3.Clinical and Hormonal Features of a Male Adolescent with Congenital Isolated Follicle-Stimulating Hormone Deficiency.KISS1R intracellular trafficking and degradation: effect of the Arg386Pro disease-associated mutation.FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficienciesMutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadism.Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.Disorders of sex development and hypogonadism: genetics, mechanism, and therapies.Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.Progression to adrenocortical tumorigenesis in mice and humans through insulin-like growth factor 2 and β-cateninAn ancient founder mutation in PROKR2 impairs human reproduction.Low DICER1 expression is associated with poor clinical outcome in adrenocortical carcinoma.Misfolding Ectodomain Mutations of the Lutropin Receptor Increase Efficacy of Hormone StimulationThe molecular pathogenesis of childhood adrenocortical tumors.Genetic insights into human isolated gonadotropin deficiency.Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disordersTime Course of Central Precocious Puberty Development Caused by an MKRN3 Gene Mutation: A Prismatic Case.Kisspeptin and clinical disorders.TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients.Genetics basis for GnRH-dependent pubertal disorders in humans.Human diseases associated with GPR54 mutations.Role of kisspeptin/GPR54 system in human reproductive axis.Impact of mutations in kisspeptin and neurokinin B signaling pathways on human reproduction.Inactivating mutations of the human luteinizing hormone receptor in both sexes.Approach to the patient with hypogonadotropic hypogonadism.New causes of central precocious puberty: the role of genetic factors.Causes, diagnosis, and treatment of central precocious puberty.
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Ana Claudia Latronico Xavier
@ast
Ana Claudia Latronico Xavier
@en
Ana Claudia Latronico Xavier
@es
Ana Claudia Latronico Xavier
@nl
type
label
Ana Claudia Latronico Xavier
@ast
Ana Claudia Latronico Xavier
@en
Ana Claudia Latronico Xavier
@es
Ana Claudia Latronico Xavier
@nl
prefLabel
Ana Claudia Latronico Xavier
@ast
Ana Claudia Latronico Xavier
@en
Ana Claudia Latronico Xavier
@es
Ana Claudia Latronico Xavier
@nl
P1053
E-1198-2012
P106
P1153
7003328129
P21
P31
P3829
P496
0000-0001-6782-693X