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Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome.
scientific article published on March 2006
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Europe PubMed Central
PubMed publication ID
16932275
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932275%20AND%20SRC:MED&resulttype=core&format=json
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29 December 2019
review article
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title
Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome
(English)
1 reference
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Europe PubMed Central
PubMed publication ID
16932275
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932275%20AND%20SRC:MED&resulttype=core&format=json
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29 December 2019
author
Pei-San Tsai
series ordinal
1
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Europe PubMed Central
PubMed publication ID
16932275
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932275%20AND%20SRC:MED&resulttype=core&format=json
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29 December 2019
author name string
John C Gill
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2
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Europe PubMed Central
PubMed publication ID
16932275
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29 December 2019
publication date
1 March 2006
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Europe PubMed Central
PubMed publication ID
16932275
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932275%20AND%20SRC:MED&resulttype=core&format=json
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29 December 2019
published in
Nature Clinical Practice Endocrinology and Metabolism
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PubMed publication ID
16932275
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932275%20AND%20SRC:MED&resulttype=core&format=json
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29 December 2019
volume
2
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Europe PubMed Central
PubMed publication ID
16932275
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932275%20AND%20SRC:MED&resulttype=core&format=json
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29 December 2019
issue
3
1 reference
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Europe PubMed Central
PubMed publication ID
16932275
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932275%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
page(s)
160-171
1 reference
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Europe PubMed Central
PubMed publication ID
16932275
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932275%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
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Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein
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A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
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The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
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Heparan sulfate proteoglycan-dependent induction of axon branching and axon misrouting by the Kallmann syndrome gene kal-1.
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Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism.
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FGF signaling through FGFR1 is required for olfactory bulb morphogenesis.
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Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome
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Cross-talk of anosmin-1, the protein implicated in X-linked Kallmann's syndrome, with heparan sulphate and urokinase-type plasminogen activator.
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Extended and flexible domain solution structure of the extracellular matrix protein anosmin-1 by X-ray scattering, analytical ultracentrifugation and constrained modelling.
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Kallmann syndrome: fibroblast growth factor signaling insufficiency?
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Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)
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An atypical contiguous gene syndrome: molecular studies in a family with X-linked Kallmann's syndrome and X-linked ichthyosis.
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Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.
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Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity
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A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
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Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations
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Cell surface, heparin-like molecules are required for binding of basic fibroblast growth factor to its high affinity receptor
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Magnetic resonance imaging of the brain in patients with anosmia and hypothalamic hypogonadism (Kallmann's syndrome).
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Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene
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Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.
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Kallmann syndrome: towards molecular pathogenesis
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Successful GnRH treatment in a patient with Kallmann's syndrome, who previously failed HMG/HCG treatment
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Two-year comparison of testicular responses to pulsatile gonadotropin-releasing hormone and exogenous gonadotropins from the inception of therapy in men with isolated hypogonadotropic hypogonadism.
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Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome
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Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons.
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Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome.
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X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene.
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7 January 2021
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7 January 2021
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7 January 2021
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1 reference
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7 January 2021
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X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene
1 reference
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reference URL
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7 January 2021
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inferred from DOI database lookup
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7 January 2021
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1 reference
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Crossref
reference URL
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7 January 2021
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Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome
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7 January 2021
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Crossref
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7 January 2021
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Identifiers
DOI
10.1038/NCPENDMET0119
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16932275
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932275%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
PubMed publication ID
16932275
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16932275
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932275%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
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