Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations
about
Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromesCentral hypogonadotropic hypogonadism: genetic complexity of a complex diseaseNeurokinin B is critical for normal timing of sexual maturation but dispensable for adult reproductive function in female miceHypogonadotropic Hypogonadism due to Novel FGFR1 MutationsRole of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.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.Genetic evaluation of male infertility.The loss of scents: do defects in olfactory sensory neuron development underlie human disease?Perspectives in Pediatric Pathology, Chapter 18. Hypogonadotropic Hypogonadisms. Pediatric and Pubertal Presentations.Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center.Prevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study.Comment on reversal of hypogonadotropic hypogonadism in a Chinese cohort.A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as reversal of hypogonadotropic hypogonadism and late-onset hypogonadism.Inhibin B, AMH, but not INSL3, IGF1 or DHEAS support differentiation between constitutional delay of growth and puberty and hypogonadotropic hypogonadism.GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency.Guidelines in CHARGE syndrome and the missing link: Cranial imaging.Reproductive endocrine phenotypes relating to CHD7 mutations in humans.Health-related quality of life in male patients with congenital hypogonadotropic hypogonadism.Childhood growth in boys with congenital hypogonadotropic hypogonadism.Childhood growth of females with Kallmann syndrome and FGFR1 mutations.Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism
P2860
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P2860
Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations
description
2012 nî lūn-bûn
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2012 թուականին հրատարակուած գիտական յօդուած
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2012 թվականին հրատարակված գիտական հոդված
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2012年の論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
@zh-tw
2012年论文
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name
Reversible congenital hypogona ...... CHD7, FGFR1 or GNRHR mutations
@ast
Reversible congenital hypogona ...... CHD7, FGFR1 or GNRHR mutations
@en
Reversible congenital hypogona ...... CHD7, FGFR1 or GNRHR mutations
@en-gb
Reversible congenital hypogona ...... CHD7, FGFR1 or GNRHR mutations
@nl
type
label
Reversible congenital hypogona ...... CHD7, FGFR1 or GNRHR mutations
@ast
Reversible congenital hypogona ...... CHD7, FGFR1 or GNRHR mutations
@en
Reversible congenital hypogona ...... CHD7, FGFR1 or GNRHR mutations
@en-gb
Reversible congenital hypogona ...... CHD7, FGFR1 or GNRHR mutations
@nl
altLabel
Reversible Congenital Hypogona ...... CHD7, FGFR1 or GNRHR Mutations
@en
prefLabel
Reversible congenital hypogona ...... CHD7, FGFR1 or GNRHR mutations
@ast
Reversible congenital hypogona ...... CHD7, FGFR1 or GNRHR mutations
@en
Reversible congenital hypogona ...... CHD7, FGFR1 or GNRHR mutations
@en-gb
Reversible congenital hypogona ...... CHD7, FGFR1 or GNRHR mutations
@nl
P2093
P2860
P50
P921
P1433
P1476
Reversible congenital hypogona ...... CHD7, FGFR1 or GNRHR mutations
@en
P2093
Eeva-Maria Laitinen
Kirsi Vaaralahti
P2860
P304
P356
10.1371/JOURNAL.PONE.0039450
P407
P577
2012-01-01T00:00:00Z