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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… 
National Institutes of Health

Related topics

Related topics

50 relations

Narrower (46)

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

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens… 
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Highly Cited
2016
Highly Cited
2016
Selection-free genome editing of the sickle mutation in human adult hematopoietic stem/progenitor cells
Hematopoietic stem cells from patients with sickle cell disease can be edited by CRISPR/Cas9 and maintain the edits in vivo… 
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… 
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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… 
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Review
2006
Review
2006
Mechanisms of disease: New insights into cystic fibrosis: molecular switches that regulate CFTR
Cystic fibrosis transmembrane conductance regulator (CFTR), a Cl−-selective ion channel, is a prototypic member of the ATP… 
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Highly Cited
2005
Highly Cited
2005
Gross Chromosomal Rearrangements and Elevated Recombination at an Inducible Site-Specific Replication Fork Barrier
Genomic rearrangements linked to aberrant recombination are associated with cancer and human genetic diseases. Such recombination… 
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Review
2004
Review
2004
Size Matters: Use of YACs, BACs and PACs in Transgenic Animals
In 1993, several groups, working independently, reported the successful generation of transgenic mice with yeast artificial… 
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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… 
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Review
2002
Review
2002
Genetic diseases of acid-base transporters.
  • S. Alper
  • Annual review of physiology
  • 2002
  • Corpus ID: 22212433
Genetic disorders of acid-base transporters involve plasmalemmal and organellar transporters of H(+), HCO3(-), and Cl… 
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… 
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