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Increased chromosome translocations and aneuploidy in peripheral blood lymphocytes of patients having revision arthroplasty of the hip

Autor: A. T. Doherty, R. T. Howell, L. A. Ellis, I. Bisbinas, I. D. Learmonth, R. Newson, C. P. Case

Publikováno v: The Journal of Bone and Joint Surgery. British volume. :1075-1081

The long-term biological effects of wear debris are unknown. We have investigated whether there is any evidence of cumulative mutagenic damage in peripheral blood lymphocytes of patients undergoing revision arthroplasty of predominantly metal-on-plas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bb909e813e7cc813c359ee4516d5331b
https://doi.org/10.1302/0301-620x.83b7.0831075

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Thrombocytopenia-absent radius syndrome: a clinical genetic study

Autor: R. T. Howell, Keith W. Brown, Ruth Newbury-Ecob, P J Ancliff, K. L. Greenhalgh, Ellen G Vernon, C C Verschuuren-Bemelmans, H G Brunner, A. Bottani

Publikováno v: Journal of Medical Genetics, 39, 876-81
Journal of Medical Genetics, 39, 12, pp. 876-81
JOURNAL OF MEDICAL GENETICS, 39(12), 876-881. BMJ PUBLISHING GROUP

Item does not contain fulltext The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and othe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ccdcfee9df51e726797f180082b0e63
http://hdl.handle.net/2066/185509

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Increased chromosome translocations and aneuploidy in peripheral blood lymphocytes of patients having revision arthroplasty of the hip

Autor: A T, Doherty, R T, Howell, L A, Ellis, I, Bisbinas, I D, Learmonth, R, Newson, C P, Case

Publikováno v: The Journal of bone and joint surgery. British volume. 83(7)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1157984df503c4d1ffa4fd145bb5f97a
https://pubmed.ncbi.nlm.nih.gov/11603526

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Genomic instability associated with limb defects: case report and review of the literature

Autor: C M, Brewer, E, Grace, G D, Stark, D W, Gregory, R T, Howell, D R, Fitzpatrick

Publikováno v: Clinical dysmorphology. 6(2)

We report a child in whom we observed markedly increased genome-wide spontaneous chromosomal breakage in both leucocytes and fibroblasts associated with severe growth retardation, radial aplasia, leucopenia, mild hydrocephalus and an unusual trichody

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c1f08ac0feefbfa51d18cb34d0362b69
https://pubmed.ncbi.nlm.nih.gov/9134289

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Spontaneous graft-versus-host disease following autologous peripheral blood progenitor cell transplantation in chronic myeloid leukaemia

Autor: M G, Rainey, P, Harrison, J M, Hows, P J, Kingston, P A, Burton, B W, Codling, R T, Howell, R R, Slade

Publikováno v: Bone marrow transplantation. 17(6)

Myeloablation followed by haemopoietic reconstitution using autologous peripheral blood progenitor cells (PBPC) is applicable to some patients with CML, particularly where there is no allogeneic stem cell donor available, and interferon alpha has fai

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c8d2e4f36db3b57011461de34b9ebeb7
https://pubmed.ncbi.nlm.nih.gov/8807117

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Duplication 2 (q11.2-q21): a previously unreported abnormality

Autor: L Burvill-Holmes, R T Howell, H Richards, A McDermott, P W Lunt, L B Cooke

A 7 year old boy is described with moderate learning disability, facial dysmorphism, and a de novo duplication of chromosome 2 (q11.2-q21). There are few published reports of proximal 2q duplication, and none reporting direct de novo duplication for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f523e076409f0f79f69587f26bb74171
https://europepmc.org/articles/PMC1051712/

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Diagnosis of Bloom's syndrome by sister chromatid exchange evaluation in chorionic villus cultures

Autor: R. T. Howell, Teresa Davies

Publikováno v: Prenatal diagnosis. 14(11)

Cultures of a chorion biopsy taken from a pregnancy at risk of Bloom's syndrome revealed the high sister chromatid exchange frequency diagnostic of this rare disorder. To obtain the result, cultures were grown under standard conditions, with the addi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59794ee8563aa9b3b84bc05816e70c31
https://pubmed.ncbi.nlm.nih.gov/7877955

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