Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

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… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2008
Highly Cited
2008
CHARGE syndrome and Kallmann syndrome (KS) are two distinct developmental disorders sharing overlapping features of impaired… Expand
Is this relevant?
Highly Cited
2006
Highly Cited
2006
Kallmann syndrome combines anosmia, related to defective olfactory bulb morphogenesis, and hypogonadism due to gonadotropin… Expand
  • table 1
  • figure 1
Is this relevant?
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… Expand
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
2006
Highly Cited
2006
BACKGROUND Kallmann's syndrome (KS) is a clinically and genetically heterogeneous disorder consisting of idiopathic… Expand
Is this relevant?
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… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2003
Highly Cited
2003
We took advantage of overlapping interstitial deletions at chromosome 8p11–p12 in two individuals with contiguous gene syndromes… Expand
  • figure 1
  • table 1
Is this relevant?
Highly Cited
2003
Highly Cited
2003
Abstract— Amino acid sequence variations in SCN5A are known to affect function of wild-type channels and also those with… Expand
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
2003
Highly Cited
2003
SCN5A encodes the alpha-subunit of the ion channel that carries Na current in human heart. From a human cardiac cDNA library we… Expand
  • table 1
  • figure 1
  • figure 2
  • table 2
  • figure 3
Is this relevant?
Highly Cited
2002
Highly Cited
2002
Sodium channels are principal molecular determinants responsible for myocardial conduction and maintenance of the cardiac rhythm… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 1
Is this relevant?
Highly Cited
1992
Highly Cited
1992
The principal voltage-sensitive sodium channel from human heart has been cloned, sequenced, and functionally expressed. The cDNA… Expand
Is this relevant?