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Autosomal dominant inheritance
Known as:
Autosomal dominant
, Autosomal dominant form
, Autosomal dominant type
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is…
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National Institutes of Health
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Related topics
Related topics
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ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
Acropectoral syndrome
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
CAPOS syndrome
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2000
Highly Cited
2000
A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16
L. Bennett
,
E. Roach
,
A. Bowcock
,
A. Bowcock
Neurology
2000
Corpus ID: 32091828
Objective: To use genetic linkage analysis to localize a gene for paroxysmal kinesigenic dyskinesia (PKD) in a three generation…
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Highly Cited
1998
Highly Cited
1998
Linkage of a QTL Contributing to Normal Variation in Bone Mineral Density to Chromosome 11q12–13
Daniel L. Koller
,
L. Rodriguez
,
+10 authors
T. Foroud
Journal of Bone and Mineral Research
1998
Corpus ID: 962658
Osteoporosis is a leading public health problem that is responsible for substantial morbidity and mortality. A major determinant…
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Highly Cited
1998
Highly Cited
1998
Effect of orthotopic liver transplantation on the progression of familial amyloidotic polyneuropathy.
E. Pomfret
,
W. Lewis
,
+5 authors
M. Skinner
Transplantation
1998
Corpus ID: 24308848
BACKGROUND Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant inherited disease associated with a mutant form of…
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Highly Cited
1997
Highly Cited
1997
Familial intracranial aneurysms
Y. Ruigrok
,
G. Rinkel
,
+16 authors
Ryynanen M
The Lancet
1997
Corpus ID: 24678413
Highly Cited
1996
Highly Cited
1996
Ligand-independent Activation of Fibroblast Growth Factor Receptors by Point Mutations in the Extracellular, Transmembrane, and Kinase Domains*
K. Neilson
,
R. Friesel
Journal of Biological Chemistry
1996
Corpus ID: 919030
The fibroblast growth factor receptors (FGFRs) are a family of receptor protein tyrosine kinases that have been shown to mediate…
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Highly Cited
1991
Highly Cited
1991
Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.
V. C. Sheffield
,
Gerald A. Fishman
,
John S. Beck
,
Alan E. Kimura
,
E. Stone
American Journal of Human Genetics
1991
Corpus ID: 25392659
Retinitis pigmentosa (RP) is a group of disorders characterized by progressive degeneration of the outer retina, resulting in…
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Highly Cited
1989
Highly Cited
1989
Polymorphic DNA haplotypes at the LDL receptor locus.
E. Leitersdorf
,
A. Chakravarti
,
H. Hobbs
American Journal of Human Genetics
1989
Corpus ID: 34822681
Mutations in the low-density lipoprotein (LDL) receptor gene result in the autosomal dominant disorder familial…
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Highly Cited
1980
Highly Cited
1980
An autosomal dominant gene regulates the extent of 9-O-acetylation of murine erythrocyte sialic acids. A probable explanation for the variation in capacity to activate the human alternate complement…
A. Varki
,
S. Kornfeld
Journal of Experimental Medicine
1980
Corpus ID: 13167869
Nydegger et al. (4) have reported that the difference in susceptibility of erythrocytes from different inbred murine strains to…
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Highly Cited
1977
Highly Cited
1977
Genetic regulation of UDP-glucuronosyltransferase induction by polycyclic aromatic compounds in mice. Co-segregation with aryl hydrocarbon (benzo(alpha)pyrene) hydroxylase induction.
I. Owens
Journal of Biological Chemistry
1977
Corpus ID: 25337684
Highly Cited
1974
Highly Cited
1974
A study of methods of identification and estimation of Lp(a) lipoprotein and of its significance in health, hyperlipidaemia and atherosclerosis.
K. Walton
,
Jane Hitchens
,
H. Magnani
,
M. Khan
Atherosclerosis
1974
Corpus ID: 6182180
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