Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Michelle Rugless"'
Autor:
John Old, Adele Timbs, Janice McCarthy, Alice Gallienne, Melanie Proven, Michelle Rugless, Herminio Lopez, Jennifer Eglinton, Dariusz Dziedzic, Matthew Beardsall, Mohamed S.M. Khalila, Shirley Henderson
Publikováno v:
Thalassemia Reports, Vol 8, Iss 1 (2018)
The current influx of economic migrants and asylum seekers from countries with a high prevalence of haemoglobinopathies creates new challenges for health care systems and diagnostic laboratories. The migration of carriers introduces new and novel hae
Externí odkaz:
https://doaj.org/article/3233765b34d642bb9749ecd718153387
Publikováno v:
Hemoglobin. 43:56-59
Unstable hemoglobins (Hbs) are often overlooked in the differential diagnoses of drug-induced hemolysis. Hb Peterborough [β111(G13)Val→Phe; HBB: c.334G>T] is a rare unstable Hb variant, predominantly found in individuals of Italian descent, due to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::58d62e3561ee3a2f22b28b76b4697d28
https://doi.org/10.1080/03630269.2019.1585368
https://doi.org/10.1080/03630269.2019.1585368
Publikováno v:
Hemoglobin. 43(1)
Unstable hemoglobins (Hbs) are often overlooked in the differential diagnoses of drug-induced hemolysis. Hb Peterborough [β111(G13)Val→Phe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::30ebe422960916965a5fa7916b0ddb40
https://pubmed.ncbi.nlm.nih.gov/31060398
https://pubmed.ncbi.nlm.nih.gov/31060398
Autor:
Michelle Rugless, Shirley Henderson, Mohamed S.M. Khalila, Alice Gallienne, Matthew Beardsall, Melanie Proven, Jennifer Eglinton, Adele Timbs, Dariusz Dziedzic, John M. Old, Herminio Lopez, Janice McCarthy
Publikováno v:
Thalassemia Reports; Volume 8; Issue 1; Pages: 7474
Thalassemia Reports, Vol 8, Iss 1 (2018)
Thalassemia Reports, Vol 8, Iss 1 (2018)
The current influx of economic migrants and asylum seekers from countries with a high prevalence of haemoglobinopathies creates new challenges for health care systems and diagnostic laboratories. The migration of carriers introduces new and novel hae
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3d10d1b1eac1cd379c65ce8f04eb580
Autor:
Simon Moule, Ruth Clifford, Adam J. Mead, Michelle Rugless, Petter S. Woll, D Atkinson, Shirley Henderson, Anna Schuh, Nicola Bienz, Sten Eirik W. Jacobsen, James S. Wainscoat, Paresh Vyas
Abstract 1738 Since the initial description of V617F somatic mutation in patients with Philadelphia chromosome negative myeloproliferative neoplasms (MPNs), a remarkable association between alterations in the JAK2 gene and MPNs has emerged. In additi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b034e86919a36d0925b6caf2016f5d25
https://ora.ox.ac.uk/objects/uuid:e50e82ac-2ead-4101-b5f6-fdc100960634
https://ora.ox.ac.uk/objects/uuid:e50e82ac-2ead-4101-b5f6-fdc100960634
Autor:
Chris Fisher, Douglas R. Higgs, Jacqueline A. Sloane-Stanley, John Old, Michelle Rugless, David Garrick, Helena Ayyub
Publikováno v:
Human Molecular Genetics. 17:3084-3093
We have characterized a newly identified 16.6 kb deletion which removes a significant proportion of the human alpha-globin cluster including the psizeta1, alpha(D), psialpha1 and alpha2-globin genes but leaves the duplicated alpha1 gene intact. This
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::679b457a93b166ea4d34adb43807d5ef
https://doi.org/10.1093/hmg/ddn205
https://doi.org/10.1093/hmg/ddn205
Autor:
Jennifer Eglinton, Dariusz Dziedzic, Michelle Rugless, Janice McCarthy, Adele Timbs, Alice Gallienne, Mohamed Khalil, John M. Old, Matthew Beardsall, Herminio Lopez, Shirley Henderson, Melanie Proven
Publikováno v:
Hemoglobin. 40(2)
We review and report here the genotypes and phenotypes of 60 novel thalassemia and abnormal hemoglobin (Hb) mutations discovered following the adoption of routine DNA sequencing of both α- and β-globin genes for all UK hemoglobinopathy samples refe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2d8c295ad1dcf296fda890e4d6dd923
https://pubmed.ncbi.nlm.nih.gov/26635043
https://pubmed.ncbi.nlm.nih.gov/26635043
Autor:
Chris Fisher, M. Qatanani, R. Naaman, Suzanne Koussa, Laila Zahed, Ali T. Taher, John M. Old, Michelle Rugless
Publikováno v:
European Journal of Haematology. 64:237-244
Approximately one third of thalassaemia patients on record in Lebanon have thalassaemia intermedia. We have analysed three factors in a panel of 73 patients with this less severe form of the disease in our population: mild beta-globin gene mutations,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::52a422b1156386066f24d73389e48c0f
https://doi.org/10.1034/j.1600-0609.2000.90087.x
https://doi.org/10.1034/j.1600-0609.2000.90087.x
Autor:
R Clifford, Sten Eirik W. Jacobsen, Simon Moule, Alexandra Dusa, Adam Burns, Shirley Henderson, Nicholas C.P. Cross, Petter S. Woll, Rosemary E. Gale, Michelle Rugless, Paresh Vyas, Stefan N. Constantinescu, Nicola Bienz, Adam J. Mead, Joannah Score, Deborah Atkinson, Christian Pecquet, Onima Chowdhury, Anna Schuh
Publikováno v:
Blood. 121(20)
The association between somatic JAK2 mutation and myeloproliferative neoplasms (MPNs) is now well established. However, because JAK2 mutations are associated with heterogeneous clinical phenotypes and often occur as secondary genetic events, some asp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da5e39c5573aa309dfdd759cf6aee679
http://ora.ox.ac.uk/objects/uuid:2d21ab33-f03b-4d0c-8eeb-f20aa678bf87
http://ora.ox.ac.uk/objects/uuid:2d21ab33-f03b-4d0c-8eeb-f20aa678bf87
Autor:
Adele Timbs, John M. Old, Anna M. Haywood, Michelle Rugless, Shirley Henderson, Alice Gallienne
Publikováno v:
Hemoglobin. 36(2)
Prenatal diagnosis of the hemoglobinopathies by fetal DNA analysis is currently performed in most countries, either by DNA sequencing, restriction enzyme polymerase chain reaction (RE-PCR) or the amplification refractory mutation system (ARMS). These
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59273f283ab6eee29f8aba69798eaca9
https://pubmed.ncbi.nlm.nih.gov/22239406
https://pubmed.ncbi.nlm.nih.gov/22239406