Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes
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Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and FutureA Jacob/Nsmf Gene Knockout Results in Hippocampal Dysplasia and Impaired BDNF Signaling in Dendritogenesis.Tooth agenesis and orofacial clefting: genetic brothers in arms?Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicismProfiling, 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.A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome.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.Brain changes in Kallmann syndrome.Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/PalateVariants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys.Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.Ataxia and focal dystonia in Kallmann syndromeWhat do we learn from the murine Jacob/Nsmf gene knockout for human disease?Malformation syndromes associated with disorders of sex development.Neural crest cells: from developmental biology to clinical interventions.Renal agenesis in Kallmann syndrome: a network approach.Kidney development and perspectives for organ engineering.Causes of hypogonadotropic hypogonadism predict response to gonadotropin substitution in adults.Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians.Fertility and fragrance: another cause of Kallmann syndrome.Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual developmentKLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.Clinical characteristics and follow-up of 5 young Chinese males with gonadotropin-releasing hormone deficiency caused by mutations in the KAL1 gene.Clinical genetic testing for Kallmann syndrome.Guidelines in CHARGE syndrome and the missing link: Cranial imaging.DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.Reproductive endocrine phenotypes relating to CHD7 mutations in humans.Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism.Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss.Childhood growth of females with Kallmann syndrome and FGFR1 mutations.Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population.Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism.SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.
P2860
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P2860
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes
@ast
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes
@en
type
label
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes
@ast
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes
@en
prefLabel
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes
@ast
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes
@en
P2093
P2860
P356
P1476
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes
@en
P2093
Andrew A Dwyer
Brian Meyer
Cassandra L Buck
Dorota Monies
Flavia Amanda Costa-Barbosa
Janet E Hall
Jin-Ho Choi
Kimberly W Keefe
Lacey Plummer
Nada Al-Tassan
P2860
P304
P356
10.1210/JC.2012-4116
P407
P577
2013-03-26T00:00:00Z