R T Howell

Southmead Hospital — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

18h-index988citations40works0.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(13), Genetics and Neurodevelopmental Disorders(7), Chromosomal and Genetic Variations(6), DNA Repair Mechanisms(4), Acute Myeloid Leukemia Research(4)

Publications40 total

Inherited pericentric inversion (X)(p11.4q11.2) associated with delayed puberty and obesity in two brothers
Cytogenetic and Genome Research·2005· 13 cited
Thrombocytopenia-absent radius syndrome:a clinical genetic study
University of Groningen research database (University of Groningen / Centre for Information Technology)·2002
Maturity-Onset Diabetes of the Young Caused by a Balanced Translocation Where the 20q12 Break Point Results in Disruption Upstream of the Coding Region of Hepatocyte Nuclear Factor-4α (<i>HNF4A</i>) Gene
Diabetes·2002· 30 citedOpen Access
Increased chromosome translocations and aneuploidy in peripheral blood lymphocytes of patients having revision arthroplasty of the hip
Journal of Bone and Joint Surgery - British Volume·2001· 41 cited
Increased chromosome translocations and aneuploidy in peripheral blood lymphocytes of patients having revision arthroplasty of the hip
Journal of Bone and Joint Surgery - British Volume·2001· 112 cited
Chromosome instability syndromes
2001
A 22q terminal deletion detectable only by FISH
1999
A case of acute nonlymphocytic leukemia with a derivative chromosome 5 resulting from a subtle unbalanced translocation, der(5)t(5;17)(p15.3;q25.1)
Cancer Genetics and Cytogenetics·1997· 1 cited
Genomic instability associated with limb defects
Clinical Dysmorphology·1997· 74 cited
Preliminary Observations on Possible Premalignant Changes in Bone Marrow Adjacent to Worn Total Hip Arthroplasty Implants
Clinical Orthopaedics and Related Research·1996· 105 cited
Spontaneous graft-versus-host disease following autologous peripheral blood progenitor cell transplantation in chronic myeloid leukaemia.
PubMed·1996· 8 cited
Duplication 2 (q11.2-q21): a previously unreported abnormality
Journal of Medical Genetics·1995· 8 citedOpen Access
Duplication 2 (q11.2-q21): a previously unreported abnormality
PubMed Central·1995Open Access
Developmental delay and dysmorphic features associated with a previously undescribed deletion on chromosome 1.
Journal of Medical Genetics·1995· 16 citedOpen Access
Chromosome Techniques–A Manual
Journal of Medical Genetics·1995· 16 citedOpen Access
Fertilization and early embryology: Testing the mutagenic potential of polyvinylpyrrolidone and methyl cellulose by sister chromatid exchange analysis prior to use in intracytoplasmic sperm injection procedures
Human Reproduction·1995· 31 cited
Acute promyelocytic leukaemia (M3): Relapse with acute myeloblastic leukaemia (M2) and dic(5;17) (q11; p11)
American Journal of Hematology·1995· 28 cited
Diagnosis of Bloom's syndrome by sister chromatid exchange evaluation in chorionic villus cultures
Prenatal Diagnosis·1994· 79 cited
Germline and somatic abnormalities of chromosome 7 in Wilms' tumor
Cancer Genetics and Cytogenetics·1994· 53 cited
Diploid and hyperdiploid rat Schwann cell strains displaying negative autoregulation of growth in vitro and myelin sheath-formation in vivo
Journal of Neuroscience Methods·1994· 18 cited
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Frequent Co-authors

Alan McDermott(12), C. Kitchen(4), Ian D. Learmonth(3), C. Patrick Case(3), Graham R. Standen(3), A. Gardner(3), Ann Doherty(2), Lyndon A. Ellis(2), Ilias Bisbinas(2), Roger Newson(2), V. Dickinson(2), Susan Roberts(2), Michael C. Nobbs(2), L B Cooke(2), Huntington Richards(2), P W Lunt(2), Lisa Burvill-Holmes(2), Victor George Langkamer(1), Jacky Webb(1), Martin R. Palmer(1)