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14q24.3

A chromosome band present on 14q
National Institutes of Health

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11 relations
ChromosomesDLST wt AlleleFOS geneFOS wt Allele

Papers overview

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Highly Cited
2005
Highly Cited
2005
Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1.
Review
2003
Review
2003
Niemann-Pick disease type C
  • M. Vanier
  • Orphanet Journal of Rare Diseases
  • 2003
  • Corpus ID: 14753402
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of… 
Highly Cited
2000
Highly Cited
2000
Identification of HE1 as the second gene of Niemann-Pick C disease.
Niemann-Pick type C2 disease (NP-C2) is a fatal hereditary disorder of unknown etiology characterized by defective egress of… 
Highly Cited
2000
Highly Cited
2000
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
Isolated human microphthalmia/anophthalmia, a cause of congenital blindness, is a clinically and genetically heterogeneous… 
Highly Cited
1998
Highly Cited
1998
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
Two closely related genes, the presenilins ( PS ), located at chromosomes 14q24.3 and 1q42.1, have been identified for autosomal… 
Highly Cited
1995
Highly Cited
1995
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3… 
Highly Cited
1995
Highly Cited
1995
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
WE report the cloning of a novel gene (E5-1) encoded on chromosome 1 which has substantial nucleotide and amino-acid sequence… 
Highly Cited
1995
Highly Cited
1995
Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3.
Genetic linkage studies have indicated that chromosome 14q24.3 harbours a major locus for early-onset (onset age <65 years… 
Highly Cited
1992
Highly Cited
1992
Mapping of a gene predisposing to early–onset Alzheimer's disease to chromosome 14q24.3
Genetic linkage studies with chromosome 21 DNA markers and mutation analysis of the β–amyloid protein precursor gene located in… 
Highly Cited
1992
Highly Cited
1992
Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14.
Linkage analysis was used to search the genome for chromosomal regions harboring familial Alzheimer's disease genes. Markers on… 
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