Zobrazeno 1 - 10
of 41
pro vyhledávání: '"David Stuart Millar"'
Autor:
Molly Chapman, David Stuart Millar, Peter D. Stenson, Andrew David Phillips, David Neil Cooper, Katy Evans, Sally Heywood, Matthew J. Hayden, Luísa Azevedo, Matthew Mort, Edward V. Ball
Publikováno v:
Human Genetics
The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that are thought to underlie, or are closely associated with human inherited disease. At the time of writing (June 2020)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1a33b79ed010c91965bd25e25833659
https://orca.cardiff.ac.uk/id/eprint/133186/1/Stenson2020_Article_TheHumanGeneMutationDatabaseHG.pdf
https://orca.cardiff.ac.uk/id/eprint/133186/1/Stenson2020_Article_TheHumanGeneMutationDatabaseHG.pdf
Autor:
Nikos Gorgoraptis, Kingsley Wong, Arnau Hervera, Sila K. Ultanir, Guiping Kong, Lucas L. Baltussen, Francesco De Virgiliis, Hongwei Yu, Yunan Gao, Jenny Downs, Jessica Chadwick, Paolo La Montanara, Tommaso Pizzorusso, Simone Di Giovanni, Qasim A. Majid, Helen Leonard, Thomas H. Hutson, Nagy Istvan, Ilaria Palmisano, David Stuart Millar, Nicholas D. Mazarakis, Katalin Bartus
Publikováno v:
Sci Transl Med
Cyclin-dependent-like kinase 5 (CDKL5) gene mutations lead to an X-linked disorder that is characterized by infantile epileptic encephalopathy, developmental delay, and hypotonia. However, we found that a substantial percentage of these patients also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90126a5c38b5bbf77dd494fc3e196fc1
http://hdl.handle.net/10044/1/80641
http://hdl.handle.net/10044/1/80641
Publikováno v:
Stem Cell Research, Vol 49, Iss, Pp 102018-(2020)
FOXG1 syndrome is a neurodevelopmental disorder caused by mutations in the FOXG1 gene. Here, an induced pluripotent stem cell (iPSC) line was generated from human dermal fibroblasts of an individual with the c.490dupG (p.Glu154fs) mutation in the FOX
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::987b027d297e486533fd4673645471d3
https://pubmed.ncbi.nlm.nih.gov/33096386
https://pubmed.ncbi.nlm.nih.gov/33096386
Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene
Autor:
Nadia Chuzhanova, David Neil Cooper, Rachel Butler, David Stuart Millar, Lyndon G. Rosser, Hayley Archer, Shane McKee, L. P. Lazarou, James Hughes
Publikováno v:
Genomic Medicine. 2:77-81
The unique case of two sisters with symptoms of RTT and two quite distinct, novel, and apparently de novo microdeletions of the MECP2 gene is described. One sister possessed an 18 base-pair (bp) deletion (c.1155_1172del18) within the deletion hotspot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b047034f0ab9662624f5fb79d0426fc
https://doi.org/10.1007/s11568-008-9026-9
https://doi.org/10.1007/s11568-008-9026-9
Autor:
T Easter, M. D. Lewis, Juan Pedro López-Siguero, David Neil Cooper, David Stuart Millar, Nieves Díaz-Torrado, Annie M. Procter, Linda Fryklund, John Gregory, Luis Fernando López-Canti, Rafael Espino, Cristóbal-Jorge Del Valle, Vicky Newsway, Maurice F. Scanlon, Martin Horan, Ramón Cañete, Martin Norin, Angels Ulied
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 89:1068-1075
The pituitary-expressed GH1 gene was screened for mutation in a group of 74 children with familial short stature. Two novel mutations were identified: an Ile179Met substitution and a −360A→G promoter variant. The Ile179Met variant was shown to ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::508bfa8233face2a1a5189fdf12a8091
https://doi.org/10.1210/jc.2003-030652
https://doi.org/10.1210/jc.2003-030652
Autor:
Michael Krawczak, Martin Horan, T Easter, Elizabeth Crowne, John Gregory, John A. Phillips, Phillip Edwards, Linda Fryklund, David Neil Cooper, Victoria Elizabeth Newsway, Annie M. Procter, Sally J. Davies, M. D. Lewis, Martin Norin, Kim Waldron, Jeremy Kirk, Patricia J. Smith, David Stuart Millar, Maurice F. Scanlon
Publikováno v:
Human Mutation. 21:424-440
Subtle mutations in the growth hormone 1 (GH1) gene have been regarded as a comparatively rare cause of short stature. Such lesions were sought in a group of 41 individuals selected for short stature, reduced height velocity, and bone age delay; a gr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d677d1369fd8e9b74b79c79579b7548
https://doi.org/10.1002/humu.10168
https://doi.org/10.1002/humu.10168
Autor:
David Stuart Millar, Richard T. Wensley, Norma B. de Bosch, David Neil Cooper, Adrian Minford, Bent N. Johansen, Sam Schulman, Argimiro Torres, Vijay V. Kakkar, Paula H. B. Bolton-Maggs, Erik Berntorp
Publikováno v:
Human Genetics. 106:646-653
Severe protein C deficiency is a rare, early onset, venous thrombotic condition that is inherited as an autosomal recessive trait. The protein C (PROC) genes of nine unrelated individuals with severe protein C deficiency were sequenced yielding a tot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eacf896d721d57a37ad8e2830a2a8d7f
https://doi.org/10.1007/s004390000315
https://doi.org/10.1007/s004390000315
Autor:
A. I. Wacey, David Neil Cooper, David Stuart Millar, J. C. Reverter, K. J. Pasi, L. Elliston, D. M. Layton, P. Cachia, Michael Krawczak, Paula H. B. Bolton-Maggs, H. K. Nieuwenhuis, J. Reynaud, P. Deex, P. M. Mannucci
Publikováno v:
Human Genetics. 106:249-257
Factor VII (FVII) deficiency is a rare haemorrhagic condition, normally inherited as an autosomal recessive trait, in which clinical presentation is highly variable and correlates poorly with laboratory phenotype. The FVII (F7) gene was sequenced in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a6837338c088692bd29c5182f461a31
https://doi.org/10.1007/s004390051035
https://doi.org/10.1007/s004390051035
Autor:
Michael Kalafatis, Sonia Luni, David Neil Cooper, Shaw C. Henderson, Paolo Simioni, Antonio Girolami, David Stuart Millar
Publikováno v:
Blood. 88:2101-2108
About 30% of human plasma protein C (PC) is of lower molecular weight than the predominant alpha-form. The minor beta-form arises as a consequence of the lack of glycosylation at Asn329. Although the functional role of Asn329 has been investigated by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa094c78081f32d87ffff1edfb0f2f61
https://doi.org/10.1182/blood.v88.6.2101.bloodjournal8862101
https://doi.org/10.1182/blood.v88.6.2101.bloodjournal8862101
Autor:
Michael Krawczak, Lutz-Peter Berg, V. V. Kakkar, David Neil Cooper, David Stuart Millar, Winter Pc, Deborah A. Scopes, Mayne Ee
Publikováno v:
Scopus-Elsevier
The prevalence of the alternative alleles of an unusual length polymorphism in the promoter of the human antithrombin III (AT3) gene was determined in a sample of 155 unrelated individuals from the Northern Irish population. The 108bp L allele and th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d21af2d20a41d1142ddf0497d85fc4dc
https://doi.org/10.1097/00001721-199510000-00006
https://doi.org/10.1097/00001721-199510000-00006