Kallmann Syndrome 1

Known as: HH1, KMS, Kallmann Syndrome, Type 1, X-linked 
Type 1 is the X-linked form with mutations of gene Kal1 which encodes anosmin-1 protein that plays a key role in the migration of GNRH-containing… (More)
National Institutes of Health

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Highly Cited
2009
Highly Cited
2009
Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also… (More)
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Review
2008
Review
2008
Kallmann syndrome (KS) combines hypogonadotropic hypogonadism and anosmia. Anosmia is related to the absence or hypoplasia of the… (More)
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2008
2008
Kallmann syndrome (KS) combines hypogonadotropic hypogonadism and anosmia. Anosmia is related to the absence or hypoplasia of the… (More)
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Highly Cited
2006
Highly Cited
2006
Mutations in KAL1 and FGFR1 cause Kallmann syndrome (KS), whereas mutations in the GNRHR and GPR54 genes cause idiopathic… (More)
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Highly Cited
2006
Highly Cited
2006
BACKGROUND Kallmann's syndrome (KS) is a clinically and genetically heterogeneous disorder consisting of idiopathic… (More)
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Highly Cited
2005
Highly Cited
2005
Kallmann syndrome combines anosmia, related to defective olfactory bulb morphogenesis, and hypogonadism due to gonadotropin… (More)
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Highly Cited
2005
Highly Cited
2005
We have recently described a molecular gatekeeper of the hypothalamic-pituitary-gonadal axis with the observation that G protein… (More)
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Highly Cited
2004
Highly Cited
2004
We report on the clinical and molecular findings in 25 males and three females with Kallmann syndrome (KS) aged 10-53 yr. Ten… (More)
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Highly Cited
2003
Highly Cited
2003
We took advantage of overlapping interstitial deletions at chromosome 8p11–p12 in two individuals with contiguous gene syndromes… (More)
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Highly Cited
2003
Highly Cited
2003
Amino acid sequence variations in SCN5A are known to affect function of wild-type channels and also those with coexisting… (More)
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