The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. - Wikidata - awgldk - TriplyDB

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

http://www.wikidata.org/entity/Q36613472

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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.NELF knockout is associated with impaired pubertal development and subfertility.Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.R31C GNRH1 mutation and congenital hypogonadotropic hypogonadism.Erythrocyte membrane antigen frequencies in patients with Type II congenital smell loss.Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience Reversal of idiopathic hypogonadotropic hypogonadism: a cohort study in Chinese patients.Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate Computational Analysis of Missense Variants of G Protein-Coupled Receptors Involved in the Neuroendocrine Regulation of Reproduction Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.DIDA: A curated and annotated digenic diseases database.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.What do we learn from the murine Jacob/Nsmf gene knockout for human disease?Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1.Identification of HESX1 mutations in Kallmann syndrome.Differential expression of nasal embryonic LHRH factor (NELF) variants in immortalized GnRH neuronal cell lines.Kallmann syndrome with a Tyr113His PROKR2 mutation.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Cellular Protein WDR11 Interacts with Specific Herpes Simplex Virus Proteins at the trans-Golgi Network To Promote Virus Replication.A genetic marker of the ACKR1 gene is present in patients with Type II congenital smell loss who have type I hyposmia and hypogeusia.GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.Clinical genetic testing for Kallmann syndrome.Comprehensive pathway-based analysis identifies associations of BCL2, GNAO1 and CHD2 with non-obstructive azoospermia risk.A missense mutation in DUSP6 is associated with Class III malocclusion.Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism.Next-generation sequencing of patients with congenital anosmia.Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism.Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families.

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The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

http://www.wikidata.org/entity/Q36613472

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The prevalence of digenic muta ...... onadism and Kallmann syndrome.

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J.FERTNSTERT.2011.09.046

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Fertility and Sterility

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The prevalence of digenic muta ...... onadism and Kallmann syndrome.

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David P Bick

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Elizabeth M Cappello

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Hyung-Goo Kim

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Lawrence C Layman

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Lynn P Chorich

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Richard J Sherins

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Samuel D Quaynor

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Tiera Williams

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P2860

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

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

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

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

Splicing in action: assessing disease causing sequence changes

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

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