Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 218,109,810 papers from all fields of science
Search
Sign In
Create Free Account
Hereditary Diseases
Known as:
Disorder, Genetic
, Hereditary Disease
, heritable disorder
Expand
Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from…
Expand
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
48 relations
3-methylcrotonyl CoA carboxylase 1 deficiency
Acanthosis Nigricans
Alpers Syndrome (disorder)
Anemia of inadequate production
Expand
Narrower (14)
Acrodermatitis enteropathica
Congenital chromosomal disease
Congenital ichthyosis
Cutis Laxa
Expand
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2003
Review
2003
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease
D. Botstein
,
N. Risch
Nature Genetics
2003
Corpus ID: 10599219
The past two decades have witnessed an explosion in the identification, largely by positional cloning, of genes associated with…
Expand
Highly Cited
2000
Highly Cited
2000
Variation in the reversibility of evolution
Henrique Teotónio
,
Michael R. Rose
Nature
2000
Corpus ID: 4371481
How reversible is adaptive evolution? Studies of microbes give mixed answers to this question. Reverse evolution has been little…
Expand
Review
2000
Review
2000
Glial Fibrillary Acidic Protein: GFAP-Thirty-One Years (1969–2000)
L. Eng
,
R. S. Ghirnikar
,
Yuen‐Ling Lee
Neurochemical Research
2000
Corpus ID: 9221868
It is now well established that the glial fibrillary acidic protein (GFAP) is the principal 8–9 nm intermediate filament in…
Expand
Highly Cited
1993
Highly Cited
1993
Faster sequential genetic linkage computations.
R. Cottingham
,
R. M. Idury
,
A. Schäffer
American Journal of Human Genetics
1993
Corpus ID: 9719408
Linkage analysis using maximum-likelihood estimation is a powerful tool for locating genes. As available data sets have grown…
Expand
Highly Cited
1993
Highly Cited
1993
Cloning the differences between two complex genomes
N. Lisitsyn
,
Natalya Lisitsyn
,
M. Wigler
Science
1993
Corpus ID: 19543148
The analysis of the differences between two complex genomes holds promise for the discovery of infectious agents and probes…
Expand
Highly Cited
1993
Highly Cited
1993
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2
G. Rouleau
,
P. Mérel
,
+18 authors
G. Thomas
Nature
1993
Corpus ID: 24532924
Neurofibromatosis type 2 (NF2) is a monogenic dominantly inherited disease predisposing carriers to develop nervous system…
Expand
Highly Cited
1987
Highly Cited
1987
Variable number of tandem repeat (VNTR) markers for human gene mapping.
Y. Nakamura
,
M. Leppert
,
+8 authors
Raymond White
Science
1987
Corpus ID: 31852313
A large collection of good genetic markers is needed to map the genes that cause human genetic diseases. Although nearly 400…
Expand
Highly Cited
1987
Highly Cited
1987
Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus.
R. Tanzi
,
J. Gusella
,
+7 authors
R. Neve
Science
1987
Corpus ID: 10106616
The amyloid beta protein has been identified as an important component of both cerebrovascular amyloid and amyloid plaques of…
Expand
Highly Cited
1982
Highly Cited
1982
Principles and methods of toxicology
A. Hayes
1982
Corpus ID: 57629410
Highly Cited
1982
Highly Cited
1982
Dramatic growth of mice that develop from eggs microinjected with metallothionein–growth hormone fusion genes
R. Palmiter
,
R. Brinster
,
+4 authors
R. Evans
Nature
1982
Corpus ID: 4356406
A DNA fragment containing the promoter of the mouse metallothionein-I gene fused to the structural gene of rat growth hormone was…
Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
(opens in a new tab)
,
Terms of Service
(opens in a new tab)
, and
Dataset License
(opens in a new tab)
ACCEPT & CONTINUE
or Only Accept Required