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14q24.3
A chromosome band present on 14q
National Institutes of Health
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11 relations
Chromosomes
DLST wt Allele
FOS gene
FOS wt Allele
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2005
Highly Cited
2005
Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1.
G. Beffagna
,
G. Occhi
,
+9 authors
A. Rampazzo
Cardiovascular Research
2005
Corpus ID: 34608139
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…
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Highly Cited
2000
Highly Cited
2000
Identification of HE1 as the second gene of Niemann-Pick C disease.
S. Naureckiene
,
D. Sleat
,
+5 authors
P. Lobel
Science
2000
Corpus ID: 22861888
Niemann-Pick type C2 disease (NP-C2) is a fatal hereditary disorder of unknown etiology characterized by defective egress of…
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Highly Cited
2000
Highly Cited
2000
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
E. Percin
,
L. Ploder
,
+12 authors
R. Mcinnes
Nature Genetics
2000
Corpus ID: 9508022
Isolated human microphthalmia/anophthalmia, a cause of congenital blindness, is a clinically and genetically heterogeneous…
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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.
M. Cruts
,
C. V. van Duijn
,
+9 authors
C. van Broeckhoven
Human Molecular Genetics
1998
Corpus ID: 3167942
Two closely related genes, the presenilins ( PS ), located at chromosomes 14q24.3 and 1q42.1, have been identified for autosomal…
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Highly Cited
1995
Highly Cited
1995
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
R. Sherrington
,
E. Rogaev
,
+30 authors
P. George-Hyslop
Nature
1995
Corpus ID: 4308372
Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3…
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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
E. Rogaev
,
R. Sherrington
,
+18 authors
P. George-Hyslop
Nature
1995
Corpus ID: 4259326
WE report the cloning of a novel gene (E5-1) encoded on chromosome 1 which has substantial nucleotide and amino-acid sequence…
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Highly Cited
1995
Highly Cited
1995
Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3.
M. Cruts
,
H. Backhovens
,
+7 authors
P. Cras
Human Molecular Genetics
1995
Corpus ID: 27072492
Genetic linkage studies have indicated that chromosome 14q24.3 harbours a major locus for early-onset (onset age <65 years…
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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
C. Broeckhoven
,
H. Backhovens
,
+4 authors
Jean-Jacques Martin
Nature Genetics
1992
Corpus ID: 10880303
Genetic linkage studies with chromosome 21 DNA markers and mutation analysis of the β–amyloid protein precursor gene located in…
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Highly Cited
1992
Highly Cited
1992
Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14.
G. Schellenberg
,
T. Bird
,
+7 authors
M. Alonso
Science
1992
Corpus ID: 34335671
Linkage analysis was used to search the genome for chromosomal regions harboring familial Alzheimer's disease genes. Markers on…
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