Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Sharon W, Horsley"'
Autor:
Amanda Dixon-McIver, J. Traeger-Synodinos, Douglas R. Higgs, Shiwangini Kumar, Evie Maifoshie, Christian Babbs, Veronica J. Buckle, Paul Ooijevaar, Jill M. Brown, Cornelis L. Harteveld, Andrew O.M. Wilkie, Joanne Slater, Marjolein Kriek, Sharon W. Horsley
Publikováno v:
Journal of Medical Genetics, 57(6), 414-421. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Journal of Medical Genetics
BackgroundDeletions removing 100s–1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developmental abnormalities. In such cases, understanding the contribution of the deletion to an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79ea1525605a7b60733ee8d057982dac
https://hdl.handle.net/1887/3184788
https://hdl.handle.net/1887/3184788
Autor:
Joanne Traeger-Synodinos, Christian Babbs, Amanda Dixon-McIver, Shiwangini Kumar, Joanne Slater, Veronica J. Buckle, Marjolein Kriek, Sharon W. Horsley, Paul Ooijevaar, Douglas R. Higgs, Cornelis L. Harteveld, Jill M. Brown, Evie Maifoshie
BackgroundSporadic deletions removing 100s-1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developmental abnormalities. In such cases, understanding the contribution of the deletio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20d5a42dcf5a82d31fc9902b28c8043e
Autor:
M. Warren-Perry, John P. Adelman, H Sakura, Lyndal Kearney, Frances M. Ashcroft, Stephen J. Tucker, Sharon W. Horsley, Chris T. Bond, Robert C Turner
it may represent a pore-forming subunit of a brain and fl-cell Abstract The ATP-sensitive K-channel plays a central role in KAT P channel (5). insulin release from pancreatic/3-cells. We report here the don- In this study, we report the cloning and g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::226274d8f9a737a43d9734002c305c1a
https://ora.ox.ac.uk/objects/uuid:e088cbd7-53e8-4446-b887-03c43dfb9f76
https://ora.ox.ac.uk/objects/uuid:e088cbd7-53e8-4446-b887-03c43dfb9f76
Autor:
Samantha J.L. Knight, Sharon W. Horsley, Regina Regan, N. Martin Lawrie, E.J. Maher, Donald L.N. Cardy, Jonathan Flint, Lyndal Kearney
We report an innovative fluorescence in situ hybridization technique which exploits a unique resource of 41 telomere-specific probes and allows the simultaneous analysis of the subtelomeric region of every chromosome for deletion, triplication and ba
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5e14e503735a832d99edf3d6b6ea9e3
https://ora.ox.ac.uk/objects/uuid:f1a324b9-74e2-4201-96a7-4ad1810ec287
https://ora.ox.ac.uk/objects/uuid:f1a324b9-74e2-4201-96a7-4ad1810ec287
Autor:
Elaine R. Levy, Sharon W. Horsley, Andrew Miller, Elisabeth Steichen-Gersdorf, Anthony P. Monaco, Vladimir Zajac, Tomas Kirchhoff
An X;17 translocation breakpoint was characterised in a 5-year-old female with hypomelanosis of Ito (HI) who exhibits characteristic hypopigmented lesions, psychomotor retardation, and choroid plexus papilloma. A YAC clone containing the locus DXS1 f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c752bc8289af474de5d36282882b113c
https://ora.ox.ac.uk/objects/uuid:6f352a31-6e6e-4d37-8978-45bda5398af1
https://ora.ox.ac.uk/objects/uuid:6f352a31-6e6e-4d37-8978-45bda5398af1
Autor:
Vaskar Saha, Anthony M. Ford, Sue Colman, Sharon W. Horsley, Jan Zuna, Kristina Anderson, Helena Kempski, Mel Greaves, Caroline M. Bateman, Lyndal Kearney, Cornelia Eckert, Frederik W. van Delft
Publikováno v:
Blood. 117:6247-6254
B-cell precursor childhood acute lymphoblastic leukemia with ETV6-RUNX1 (TEL-AML1) fusion has an overall good prognosis, but relapses occur, usually after cessation of treatment and occasionally many years later. We have investigated the clonal origi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e63a50a78befbde36b7c54baa4c0dc66
https://doi.org/10.1182/blood-2010-10-314674
https://doi.org/10.1182/blood-2010-10-314674
Autor:
Claus Meyer, Ester Mejstrikova, Jan Stary, Lyndal Kearney, Katerina Muzikova, H. Ptoszková, Susan M. Colman, Rolf Marschalek, Zuzana Zemanova, Ondrej Hrusak, Sharon W. Horsley, Jan Zuna, Tatiana Burjanivova, Jan Trka, Mel Greaves
Publikováno v:
Genes, Chromosomes and Cancer. 48:98-107
Acute leukemia is considered to be a two- or multiple-step process. Although there is a considerable knowledge regarding the character of the "first hit," the nature of the "second hit" remains unanswered in most of the cases including leukemias with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6236cf3eb633b5bd343d9a00fb45dd50
https://doi.org/10.1002/gcc.20622
https://doi.org/10.1002/gcc.20622
Autor:
Mark McKinley, Tracy Chaplin, Sharon W. Horsley, Meriel Jenney, Lyndal Kearney, Bryan D. Young, Mel Greaves, Susan M. Colman, Caroline M. Bateman
Publikováno v:
Genes, Chromosomes and Cancer. 47:333-340
In a small fraction ( approximately 2%) of cases of childhood acute lymphoblastic leukemia (ALL) clinical presentation of leukemia is preceded, some 2-9 months earlier, by a transient, remitting phase of nonclassical aplastic anemia, usually in conne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69aa4a2a81a6b2f9befa7abaf0ae4e55
https://doi.org/10.1002/gcc.20537
https://doi.org/10.1002/gcc.20537
Autor:
Anthony V. Moorman, Sharon W. Horsley, Fiona M. Ross, Mike Griffiths, Mel Greaves, Lyndal Kearney, Helena Kempski, Christine J. Harrison, Alicja M. Gruszka-Westwood, Angel Martinez-Ramirez
Publikováno v:
Genes, Chromosomes and Cancer. 41:191-202
The functional consequences of a high-hyperdiploid karyotype, found in up to one-third of cases of acute lymphoblastic leukemia (ALL), are unknown. Using the technique of comparative expressed sequence hybridization (CESH), we sought to address the q
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99d6e298eeeb8557320565d5edc693c1
https://doi.org/10.1002/gcc.20085
https://doi.org/10.1002/gcc.20085
Autor:
Douglas R. Higgs, Helena Ayyub, Sharon W. Horsley, Alexa M. J. Kidd, Vip Viprakasit, Jim R. Hughes
Publikováno v:
British Journal of Haematology. 120:867-875
We have identified and characterized a Scottish individual with alpha thalassaemia, resulting from a de novo 48 kilobase (kb) deletion from the telomeric flanking region of the alpha globin cluster which occurred as a result of recombination between
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54e719e0122dac5a8e4abea27623915a
https://doi.org/10.1046/j.1365-2141.2003.04197.x
https://doi.org/10.1046/j.1365-2141.2003.04197.x