Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. - Wikidata - awgldk - TriplyDB

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

http://www.wikidata.org/entity/Q34093958

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Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes Genetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genes Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future Central hypogonadotropic hypogonadism: genetic complexity of a complex disease The genetic basis of female reproductive disorders: etiology and clinical testing A Jacob/Nsmf Gene Knockout Results in Hippocampal Dysplasia and Impaired BDNF Signaling in Dendritogenesis.Pathogenesis of FUS-associated ALS and FTD: insights from rodent models Gynaecomastia--pathophysiology, diagnosis and treatment The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations Expanding the phenotype and genotype of female GnRH deficiency Commentary: the year in endocrine genetics for basic scientists Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination NELF knockout is associated with impaired pubertal development and subfertility.Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.Profiling, Bioinformatic, and Functional Data on the Developing Olfactory/GnRH System Reveal Cellular and Molecular Pathways Essential for This Process and Potentially Relevant for the Kallmann Syndrome.PRR repeats in the intracellular domain of KISS1R are important for its export to cell membrane.Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations Regulation of sex determination in mice by a non-coding genomic region.Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.Genetic counseling for isolated GnRH deficiency.Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.R31C GNRH1 mutation and congenital hypogonadotropic hypogonadism.Exome sequencing for the diagnosis of 46,XY disorders of sex development.Erythrocyte membrane antigen frequencies in patients with Type II congenital smell loss.Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction.G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies Unique phenotype in a patient with CHARGE syndrome.Isolated GnRH deficiency: a disease model serving as a unique prism into the systems biology of the GnRH neuronal network Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

http://www.wikidata.org/entity/Q34093958

description

2010 nî lūn-bûn

@nan

2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի օգոստոսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

@en

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

@nl

type

label

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

@en

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

@nl

prefLabel

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

@ast

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

@en

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

@nl

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PNAS.1009622107

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Proceedings of the National Academy of Sciences of the United States of America

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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

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James F Gusella

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Janet E Hall

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Lacey Plummer

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Richard Quinton

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Virginia A Hughes

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William F Crowley

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P2860

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54

A method and server for predicting damaging missense mutations

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