Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Jeanette D. Hamlington"'
Autor:
Catherine Tran, Jayshree Zaveri, John P. O'Neill, J S Sibbring, Iain McIntosh, Roger Mountford, Jennifer A. Dunston, Jeanette D. Hamlington, Elizabeth Sweeney, Maria Malbroux
Publikováno v:
Genomics. 84:565-576
LMX1B is a LIM-homeodomain transcription factor required for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Heterozygous loss-of-function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa9a82e41645c5484f2a68cd46561227
https://doi.org/10.1016/j.ygeno.2004.06.002
https://doi.org/10.1016/j.ygeno.2004.06.002
Publikováno v:
European Journal of Human Genetics. 8:311-314
Nail patella syndrome (NPS) has been shown to result from loss of function mutations within the transcription factor LMX1B. In a large NPS family a 17 bp intronic deletion encompassing a consensus branchpoint sequence was observed to segregate with t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::541096d51cf18dab26bdfb74f74073d8
https://doi.org/10.1038/sj.ejhg.5200448
https://doi.org/10.1038/sj.ejhg.5200448
Publikováno v:
Human Mutation. 14:459-465
Nail-patella syndrome (NPS) is a pleiotropic condition characterized by dysplasia of the nails, hypoplasia of the patellae, elbow dysplasia, and progressive kidney disease. The syndrome is inherited in an autosomal dominant manner and has been shown
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::70330d5b81c8a855b20b28ef977e98a4
https://doi.org/10.1002/(sici)1098-1004(199912)14:6<459::aid-humu3>3.0.co
https://doi.org/10.1002/(sici)1098-1004(199912)14:6<459::aid-humu3>3.0.co
Publikováno v:
Human mutation. 18(5)
We report twenty-two novel mutations in the gene encoding the transcription factor LMX1B, previously shown to be mutated in persons with Nail Patella Syndrome (NPS). The mutations comprised eight missense, one splice-site, three insertion/deletion an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52de9e66d5674c1fd082fec7890388f8
https://pubmed.ncbi.nlm.nih.gov/11668639
https://pubmed.ncbi.nlm.nih.gov/11668639
Autor:
Alan D. Michelson, Jeanette D. Hamlington, Marc R. Barnard, Lindsay D. Coleman, Thomas S. Kickler, Sourav Kundu, Paul F. Bray, Mary Ann Mascelli, Pascal J. Goldschmidt-Clermont, Mark I. Furman, Craig W. Hendrix, Douglas J. Christie
Publikováno v:
Circulation. 101(9)
Background —Both inherited predisposition and platelet hyperreactivity have been associated with ischemic coronary events, but mechanisms that support genetic differences among platelets from different subjects are generally lacking. Associations b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4b92e4e2a9a53d14636ab55f3144c5d
https://pubmed.ncbi.nlm.nih.gov/11171808
https://pubmed.ncbi.nlm.nih.gov/11171808
Autor:
Jeanette D. Hamlington, Helen Snowden, Sara Rollinson, David Miller, David Briggs, Stephen A. Krawetz, Richard J. Lilford
Publikováno v:
Gene. 237(2)
The presence of mRNAs in human ejaculate spermatozoa is well established, yet little is known of the representation or function of these transcripts. To address these issues, the complexity of spermatozoal RNA was examined. As expected, testis-expres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48478dd35869ee82d134a92e867d5837
https://pubmed.ncbi.nlm.nih.gov/10521662
https://pubmed.ncbi.nlm.nih.gov/10521662
Autor:
Jeanette D. Hamlington, Zoe Yates, Joan Cunningham, David Miller, Gerald Mason, Robert F. Mueller
Publikováno v:
British journal of obstetrics and gynaecology. 106(10)
Objectives To develop a non–invasive method for determining fetal RhD status in order to provide improved care for women most at risk. Design A prospective study. Methods Fetal erythroblasts were enriched from the peripheral circulation of 96 RhD n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ae70b4fa5ea8e0cc151311e916cdde1
https://pubmed.ncbi.nlm.nih.gov/10519426
https://pubmed.ncbi.nlm.nih.gov/10519426
Publikováno v:
Human Mutation. 18:458-458
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2e6278c5fa9f4963fb988f822bfd4a52
https://doi.org/10.1002/humu.1217.abs
https://doi.org/10.1002/humu.1217.abs
Autor:
Glen E. Cooke, Jeanette D. Hamlington, Dung M Pham, Pascal J. Goldschmidt-Clermont, Paul F. Bray
Publikováno v:
The Lancet. 351:1253
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::241c4d39ff135282bd8cce55e0122d3a
https://doi.org/10.1016/s0140-6736(05)79320-x
https://doi.org/10.1016/s0140-6736(05)79320-x