Expanding the phenotype and genotype of female GnRH deficiency - Wikidata - awgldk - TriplyDB

Expanding the phenotype and genotype of female GnRH deficiency

Expanding the phenotype and genotype of female GnRH deficiency

http://www.wikidata.org/entity/Q28386577

about

Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation Using kisspeptin to assess GnRH function in an unusual case of primary amenorrhoea.Genetic counseling for isolated GnRH deficiency.Bone mineral density, body composition and bone turnover in patients with congenital hypogonadotropic hypogonadism.Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.Mutations in KISS1 are not responsible for idiopathic hypogonadotropic hypogonadism in Chinese patients.Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction.Isolated GnRH deficiency: a disease model serving as a unique prism into the systems biology of the GnRH neuronal network Fibroblast growth factor signaling deficiencies impact female reproduction and kisspeptin neurons in mice Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.An ancient founder mutation in PROKR2 impairs human reproduction.Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism.Comparison of detection of normal puberty in girls by a hormonal sleep test and a gonadotropin-releasing hormone agonist test Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Beyond hormone replacement: quality of life in women with congenital hypogonadotropic hypogonadism.Sexuality and quality of life in congenital hypogonadisms.Renal agenesis in Kallmann syndrome: a network approach.Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians.Diurnal variation of gonadotropin levels in girls with early stages of puberty.Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life Clinical characteristics of 138 Chinese female patients with idiopathic hypogonadotropic hypogonadism.GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency.The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism.Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population.Divergent responses to kisspeptin in children with delayed puberty.

P2860

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P2860

Expanding the phenotype and genotype of female GnRH deficiency

http://www.wikidata.org/entity/Q28386577

description

2011 nî lūn-bûn

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2011 թուականի Մարտին հրատարակուած գիտական յօդուած

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2011 թվականի մարտին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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Expanding the phenotype and genotype of female GnRH deficiency

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Expanding the phenotype and genotype of female GnRH deficiency

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Expanding the phenotype and genotype of female GnRH deficiency

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Expanding the phenotype and genotype of female GnRH deficiency

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Expanding the phenotype and genotype of female GnRH deficiency

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Expanding the phenotype and genotype of female GnRH deficiency

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Expanding the phenotype and genotype of female GnRH deficiency

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Expanding the phenotype and genotype of female GnRH deficiency

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The Journal of Clinical Endocrinology and Metabolism

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Expanding the phenotype and genotype of female GnRH deficiency

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Andrew A Dwyer

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Corrine K Welt

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Janet E Hall

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Kathryn A Martin

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Lacey Plummer

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Margaret G Au

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Natalie D Shaw

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Paulina M Merino

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Richard Quinton

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Stephanie B Seminara

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P2860

X-inactivation profile reveals extensive variability in X-linked gene expression in females

Human puberty - simultaneous augmented secretion of luteinizing hormone and testosterone during sleep

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

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

PANTHER: a browsable database of gene products organized by biological function, using curated protein family and subfamily classification

The GPR54 gene as a regulator of puberty

Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH)

Prokineticin 2 transmits the behavioural circadian rhythm of the suprachiasmatic nucleus

SIFT: Predicting amino acid changes that affect protein function

Prediction of deleterious human alleles

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E566-76

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10.1210/JC.2010-2292

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James F. Gusella

Nelly Pitteloud

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2011-03-01T00:00:00Z

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49731500

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21209029

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clinical chemistry

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3047229

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