14q24.3

A chromosome band present on 14q
National Institutes of Health

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11 relations
ChromosomesDLST wt AlleleFOS geneFOS wt Allele
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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.
OBJECTIVE Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically heterogeneous disorder characterized by fibro… (More)
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Highly Cited
2005
Highly Cited
2005
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
BACKGROUND Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterised by congenital muscular dystrophy… (More)
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Review
2003
Review
2003
Niemann-Pick disease type C.
Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage with a wide spectrum of clinical… (More)
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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… (More)
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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… (More)
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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… (More)
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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… (More)
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1995
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… (More)
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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… (More)
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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… (More)
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