Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Sandra G. Durkin"'
Autor:
Thomas W. Glover, Jennifer G. Mulle, Ryan L. Ragland, Stephen T. Warren, Valerie M. Schaibley, Martin F. Arlt, Sandra G. Durkin
Publikováno v:
The American Journal of Human Genetics. 84(3):339-350
Copy number variants (CNVs) are an important component of genomic variation in humans and other mammals. Similar de novo deletions and duplications, or copy number changes (CNCs), are now known to be a major cause of genetic and developmental disorde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a11689945840b5acc19703b3ffc44dd
Publikováno v:
Journal of Computational Physics. 227:4600-4616
The image system for the method of regularized Stokeslets is developed and implemented. The method uses smooth localized functions to approximate a delta distribution in the derivation of the fluid flow due to a concentrated force. In order to satisf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba7db1cb989f12d93a9061e4cbd8220d
https://doi.org/10.1016/j.jcp.2008.01.032
https://doi.org/10.1016/j.jcp.2008.01.032
Publikováno v:
DNA Repair. 5:1126-1135
Common fragile sites are large chromosomal regions that preferentially exhibit gaps or breaks after DNA synthesis is partially perturbed. Fragile site instability in cultured cells is well documented and includes gaps and breaks on metaphase chromoso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6931e89a0a6215215cd4fae4d4958026
https://doi.org/10.1016/j.dnarep.2006.05.010
https://doi.org/10.1016/j.dnarep.2006.05.010
Publikováno v:
Human Molecular Genetics. 14:R197-R205
The study of common fragile sites has its roots in the early cytogenetic investigations of the fragile X syndrome. Long considered an interesting component of chromosome structure, common fragile sites have taken on novel significance as regions of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de07db576def30e50ab7e2ec967c501b
https://doi.org/10.1093/hmg/ddi265
https://doi.org/10.1093/hmg/ddi265
Publikováno v:
Molecular and Cellular Biology. 24:6701-6709
Common fragile sites are loci that form chromosome gaps or breaks when DNA synthesis is partially inhibited. Fragile sites are prone to deletions, translocations, and other rearrangements that can cause the inactivation of associated tumor suppressor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8df0ac88fd25c3be1579cdf769cc838
https://doi.org/10.1128/mcb.24.15.6701-6709.2004
https://doi.org/10.1128/mcb.24.15.6701-6709.2004
Autor:
Thomas W. Glover, Sandra G. Durkin
Publikováno v:
Annual review of genetics. 41
Chromosomal fragile sites are specific loci that preferentially exhibit gaps and breaks on metaphase chromosomes following partial inhibition of DNA synthesis. Their discovery has led to novel findings spanning a number of areas of genetics. Rare fra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e2b659b5e5436a3c5f7bcbe943473d7
https://pubmed.ncbi.nlm.nih.gov/17608616
https://pubmed.ncbi.nlm.nih.gov/17608616
Publikováno v:
Human molecular genetics. 14(5)
Fanconi anemia (FA) is a rare multi-genic, autosomal and X-linked recessive disorder characterized by hematological abnormalities, developmental defects and increased cancer susceptibility. Patient-derived FA cells display heightened sensitivity to D
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61585e69916e97765d49be1bf5d69429
https://pubmed.ncbi.nlm.nih.gov/15661754
https://pubmed.ncbi.nlm.nih.gov/15661754
Publikováno v:
American journal of human genetics. 75(4)
Seckel syndrome (SCKL) is a rare, genetically heterogeneous disorder, with dysmorphic facial appearance, growth retardation, microcephaly, mental retardation, variable chromosomal instability, and hematological disorders. To date, three loci have bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8322db77ecbd76cc5aff4c0b9f406130
https://pubmed.ncbi.nlm.nih.gov/15309689
https://pubmed.ncbi.nlm.nih.gov/15309689
Autor:
Michael Boehnke, Joel Singer, Sandra G. Durkin, Francis S. Collins, Antonei B. Csoka, Christiane M. Robbins, Laura J. Scott, Leslie B. Gordon, W. Ted Brown, Maria Eriksson, Tracy Moses, Michael R. Erdos, Peter Berglund, Michael W. Glynn, Amalia Dutra, Thomas W. Glover, Evgenia Pak
Publikováno v:
Nature. 423(6937)
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by features reminiscent of marked premature ageing. Here, we present evidence of mutations in lamin A (LMNA) as the cause of this disorder. The HGPS gene was initial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::547c1435420e2719b327da50dc194aa7
https://pubmed.ncbi.nlm.nih.gov/12714972
https://pubmed.ncbi.nlm.nih.gov/12714972