Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Niolette I. McGill"'
Autor:
Ann M. Hever, Wee Teik Keng, Freddie H. Sharkey, Joe Rainger, Kathleen A. Williamson, R. Curtis Rogers, Peter D. Turnpenny, Mario Messina, Adele Schneider, David R. FitzPatrick, Alex Magee, J. Fantes, Clare J. Hill, Niolette I. McGill, Zdenek Fiedler, Veronica van Heyningen
Publikováno v:
Human Molecular Genetics. 15:1413-1422
We report heterozygous, loss-of-function SOX2 mutations in three unrelated individuals with Anophthalmia-Esophageal-Genital (AEG) syndrome. One previously reported case [Rogers, R.C. (1988) Unknown cases. Proceedings of the Greenwood Genetic Center.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4032f81979e7dd938ed05ec2f309ffbe
https://doi.org/10.1093/hmg/ddl064
https://doi.org/10.1093/hmg/ddl064
Autor:
Nicholas D. Hastie, David R. FitzPatrick, Andrew D. Carothers, Jacqueline Ramsay, Mary Shade, Niolette I. McGill
Publikováno v:
Human Molecular Genetics. 11:3249-3256
We present transcriptome analyses of primary cultures of human fetal cells from pregnancies affected with trisomy 21 (t21) and trisomy 13 (t13). Pooled mRNA samples from t21 and t13 cases were used for comparative hybridizations to cDNA arrays with p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd04f5b99b5d20557ea53d2e145aa893
https://doi.org/10.1093/hmg/11.26.3249
https://doi.org/10.1093/hmg/11.26.3249
Autor:
Dirk Schindelhauer, Howard J. Cooke, Brenda Grimes, Niolette I. McGill, Andrew Ross, Thomas A. Ebersole, Elma Clark
Publikováno v:
Human Molecular Genetics. 9:1623-1631
Mammalian artificial chromosomes (MACs) form in HT1080 cells after transfecting linear yeast artificial chromosome constructs minimally containing competent alphoid arrays, a selectable marker and terminal human telomere repeats. Restrictions on the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54c6854c7b0894262d2bee7211080df1
https://doi.org/10.1093/hmg/9.11.1623
https://doi.org/10.1093/hmg/9.11.1623
Autor:
Hiroshi Masumoto, Tuneko Okazaki, Howard J. Cooke, Megumi Nakano, Kaori Saitoh, Masashi Ikeno, Brenda Grimes, Harumi Hoshino, Niolette I. McGill
Publikováno v:
Nature Biotechnology. 16:431-439
To construct a mammalian artificial chromosome (MAC), telomere repeats and selectable markers were introduced into a 100 kb yeast artificial chromosome (YAC) containing human centromeric DNA. This YAC, which has a regular repeat structure of alpha-sa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2be077c10ef4d56973647dd9e4b8b90b
https://doi.org/10.1038/nbt0598-431
https://doi.org/10.1038/nbt0598-431
Publikováno v:
Mutation Research/DNAging. 256:45-48
Telomeric DNA in the skin cells of 21 human subjects aged between 0 and 92 years was quantified by determining the length of the telomeric smear and the relative amount of TTAGGG repeat sequences. Both telomere length and quantity of telomeric repeat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b89cb74649e1eee1b468a0c88e5f0b6f
https://doi.org/10.1016/0921-8734(91)90032-7
https://doi.org/10.1016/0921-8734(91)90032-7
Autor:
Sally H. Cross, Howard J. Cooke, Stewart McKay, Niolette I. McGill, Janet C. Lindsey, J Fantes
Publikováno v:
Nucleic Acids Research. 18:6649-6657
All telomeres which have been studied consist of an array of simple G/C rich repeats. Human telomeres were shown to share sequence similarity with those of lower eukaryotes by cross-hybridization and human telomeric sequences have been cloned by comp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d74ec9a2bc261aa2565d932366622135
https://doi.org/10.1093/nar/18.22.6649
https://doi.org/10.1093/nar/18.22.6649
Autor:
Philippe Gautier, Alex F. Markham, Ian M. Carr, Patrick J. Wightman, Caroline Hayward, J. Fantes, Niolette I. McGill, Kathy Williamson, Helen V. Firth, J.P. Leek, David T. Bonthron, David R. FitzPatrick, Lorna McLaren
Publikováno v:
Human molecular genetics. 12(19)
Cytogenetic evidence, in the form of deletions and balanced translocations, points to the existence of a locus on 2q32-q33, for which haploinsufficiency results in isolated cleft palate (CPO). Here we show by high-resolution FISH mapping of two de no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0ff0ce525738e01979baed1a6ddd4e5
https://pubmed.ncbi.nlm.nih.gov/12915443
https://pubmed.ncbi.nlm.nih.gov/12915443
Autor:
Andrew Ross, Mary Taggart, Howard J. Cooke, S. M. Maguire, R. Slee, R. M. Speed, Brenda R. Grimes, Niolette I. McGill, Philippa T. K. Saunders
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 96(14)
In a subset of infertile men, a spectrum of spermatogenic defects ranging from a complete absence of germ cells (sertoli cell only) to oligozoospermia is associated with microdeletions of the DAZ (deleted in azoospermia ) gene cluster on human distal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb5ca0d135b7dfce8811132c41d08eaa
https://pubmed.ncbi.nlm.nih.gov/10393944
https://pubmed.ncbi.nlm.nih.gov/10393944
Autor:
Brenda Grimes, David Kipling, Claudia Teschke, Christine J. Farr, Niolette I. McGill, Howard J. Cooke, Patricia Malloy, Helen E. Wilson, Sally H. Cross
Publikováno v:
Genomic Instability and Immortality in Cancer ISBN: 9781461374480
The ends of linear mammalian chromosomes consist of a simple repeated sequence (T2AG3)n [reviewed in 1,2]. These terminal repeats play a role in prevention of end to end fusion and prot7ection from exonucleolytic degradation [3]. A ribonucleoprotein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f72fd3dc9427394e22db528a0751d39
https://doi.org/10.1007/978-1-4615-5365-6_9
https://doi.org/10.1007/978-1-4615-5365-6_9
