Genetic Diseases, X-Linked

Known as: Genetic Diseases, X-Linked [Disease/Finding], X-Linked Genetic Disease, Genetic Diseases, X Chromosome Linked 
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included… (More)
National Institutes of Health

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ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIAATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISIONAarskog syndromeAlport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
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In BloodSex Chromosome Aberrationsnursing therapyprevention & control

Papers overview

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Highly Cited
2014
Highly Cited
2014
A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases
Invertebrate model systems are powerful tools for studying human disease owing to their genetic tractability and ease of… (More)
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2014
2014
Hydroxylation of the eukaryotic ribosomal decoding center affects translational accuracy.
The mechanisms by which gene expression is regulated by oxygen are of considerable interest from basic science and therapeutic… (More)
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Highly Cited
2012
Highly Cited
2012
Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models
Accurate identification of sparse heterozygous single-nucleotide variants (SNVs) is a critical challenge for identifying the… (More)
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Highly Cited
2008
Highly Cited
2008
An Ancient Evolutionary Origin of Genes Associated with Human Genetic Diseases
Several thousand genes in the human genome have been linked to a heritable genetic disease. The majority of these appear to be… (More)
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Highly Cited
2003
Highly Cited
2003
Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter
In Fig.2 the nucleotide coordinates on the left above the sequence alignment blocks are wrong: 1, 88, 188, 278, 387, and 485… (More)
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2003
2003
A transgenic animal model resembling amelogenesis imperfecta related to ameloblastin overexpression.
Genetic diseases that affect tooth enamel are grouped under the classification amelogenesis imperfecta. Human pedigrees and… (More)
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Highly Cited
2003
Highly Cited
2003
Polycystic kidney disease—the ciliary connection
CONTEXT "Cystic degeneration" of the kidneys was first described pathologically in 1841 and "polycystic kidneys" as a clinical… (More)
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Review
2002
Review
2002
Genetic diseases of acid-base transporters.
Genetic disorders of acid-base transporters involve plasmalemmal and organellar transporters of H(+), HCO3(-), and Cl… (More)
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Highly Cited
2002
Highly Cited
2002
Homophila: human disease gene cognates in Drosophila
Although many human genes have been associated with genetic diseases, knowing which mutations result in disease phenotypes often… (More)
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Highly Cited
1987
Highly Cited
1987
Probucol prevents the progression of atherosclerosis in Watanabe heritable hyperlipidemic rabbit, an animal model for familial hypercholesterolemia.
In this study, we questioned whether in vivo probucol could prevent the progression of atherosclerosis in homozygous Watanabe… (More)
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