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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
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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…
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National Institutes of Health
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Related topics
Related topics
50 relations
Narrower (46)
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
Aarskog syndrome
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
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In Blood
Sex Chromosome Aberrations
nursing therapy
prevention & control
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
Michelle M. Clark
,
Z. Stark
,
+4 authors
S. Kingsmore
npj Genomic Medicine
2018
Corpus ID: 49666239
Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing (WGS) and whole-exome sequencing (WES) are…
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Review
2017
Review
2017
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
K. Boycott
,
A. Rath
,
+37 authors
Hanns Lochmüller
American Journal of Human Genetics
2017
Corpus ID: 33324010
Highly Cited
2016
Highly Cited
2016
Selection-free genome editing of the sickle mutation in human adult hematopoietic stem/progenitor cells
M. DeWitt
,
W. Magis
,
+12 authors
J. Corn
Science Translational Medicine
2016
Corpus ID: 728247
Hematopoietic stem cells from patients with sickle cell disease can be edited by CRISPR/Cas9 and maintain the edits in vivo…
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Highly Cited
2014
Highly Cited
2014
A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases
Shinya Yamamoto
,
M. Jaiswal
,
+40 authors
H. Bellen
Cell
2014
Corpus ID: 4992145
Highly Cited
2008
Highly Cited
2008
A Catalog of Neutral and Deleterious Polymorphism in Yeast
Scott Doniger
,
Hyun Seok Kim
,
+4 authors
J. Fay
PLoS Genetics
2008
Corpus ID: 981391
The abundance and identity of functional variation segregating in natural populations is paramount to dissecting the molecular…
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Review
2006
Review
2006
Mechanisms of disease: New insights into cystic fibrosis: molecular switches that regulate CFTR
W. Guggino
,
B. Stanton
Nature reviews. Molecular cell biology
2006
Corpus ID: 21658598
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
S. Lambert
,
A. Watson
,
Daniel M. Sheedy
,
Ben Martin
,
A. Carr
Cell
2005
Corpus ID: 16982335
Highly Cited
2002
Highly Cited
2002
Homophila: human disease gene cognates in Drosophila
S. Chien
,
L. Reiter
,
E. Bier
,
M. Gribskov
Nucleic Acids Res.
2002
Corpus ID: 34854882
Although many human genes have been associated with genetic diseases, knowing which mutations result in disease phenotypes often…
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Review
2001
Review
2001
Size Matters: Use of YACs, BACs and PACs in Transgenic Animals
P. Giraldo
,
L. Montoliu
Transgenic research
2001
Corpus ID: 5548300
In 1993, several groups, working independently, reported the successful generation of transgenic mice with yeast artificial…
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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.
T. Kita
,
Y. Nagano
,
+5 authors
C. Kawai
Proceedings of the National Academy of Sciences…
1987
Corpus ID: 497146
In this study, we questioned whether in vivo probucol could prevent the progression of atherosclerosis in homozygous Watanabe…
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