SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development
about
Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromesCentral hypogonadotropic hypogonadism: genetic complexity of a complex diseaseThe genetic basis of female reproductive disorders: etiology and clinical testingThe membrane proteome of sensory cilia to the depth of olfactory receptors.Mutations in FEZF1 cause Kallmann syndromeExpert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys.Neuroendocrine causes of amenorrhea--an update.Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.Point mutations in KAL1 and the mitochondrial gene MT-tRNA(cys) synergize to produce Kallmann syndrome phenotype.Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.PROK2/PROKR2 Signaling and Kallmann Syndrome.Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypesSemaphorin signaling in the development and function of the gonadotropin hormone-releasing hormone system.Olfactory system and demyelination.Invertebrate models of kallmann syndrome: molecular pathogenesis and new disease genes.Congenital diseases and semaphorin signaling: overview to date of the evidence linking them.CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.The loss of scents: do defects in olfactory sensory neuron development underlie human disease?Renal agenesis in Kallmann syndrome: a network approach.Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal lifeDefective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice.A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants.Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism.Next-generation sequencing of patients with congenital anosmia.Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.Biallelic SEMA3A defects cause a novel type of syndromic short stature.Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism
P2860
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P2860
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development
description
2012 nî lūn-bûn
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2012 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
SEMA3A deletion in a family wi ...... d olfactory system development
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SEMA3A deletion in a family wi ...... d olfactory system development
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SEMA3A deletion in a family wi ...... d olfactory system development
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SEMA3A deletion in a family wi ...... d olfactory system development
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type
label
SEMA3A deletion in a family wi ...... d olfactory system development
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SEMA3A deletion in a family wi ...... d olfactory system development
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SEMA3A deletion in a family wi ...... d olfactory system development
@en-gb
SEMA3A deletion in a family wi ...... d olfactory system development
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prefLabel
SEMA3A deletion in a family wi ...... d olfactory system development
@ast
SEMA3A deletion in a family wi ...... d olfactory system development
@en
SEMA3A deletion in a family wi ...... d olfactory system development
@en-gb
SEMA3A deletion in a family wi ...... d olfactory system development
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P2093
P50
P356
P1433
P1476
SEMA3A deletion in a family wi ...... d olfactory system development
@en
P2093
Anne Guiochon-Mantel
Audrey Briand-Suleau
Bassim Tou
Blandine Esteva
Bruno Francou
Corinne Metay
Jerome Bouligand
Julie Sarfati
Michel Goossens
Sophie Brisset
P304
P356
10.1093/HUMREP/DES022
P407
P577
2012-03-12T00:00:00Z