Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Maureen Boxer"'
Publikováno v:
Human Mutation. 21:327-330
We have analyzed DNA from peripheral blood of 42 cases of familial melanoma for germline mutations in exon 15 of the BRAF gene. No evidence of mutation was found. We have also analyzed DNA extracted from secondary melanoma from two members of these f
Publikováno v:
Journal of Medical Genetics. 37:623-627
Editor—The branchio-oto-renal (BOR) syndrome was first reported in the last century by Heusinger, but not clinically defined until 1976 by Melnick et al .1 The major clinical features associated with the BOR syndrome are hearing loss, branchial def
Autor:
Nabil Moghrabi, Douglas J. Clarke, Andrew Cassidy, Brian Burchell, Robert Hume, Maureen Boxer, Gemma Monaghan
Publikováno v:
Clinica Chimica Acta. 266:63-74
Congenital familial non-haemolytic hyperbilirubinaemias are potentially lethal syndromes caused by genetic lesions that reduce or abolish hepatic bilirubin UDP-glucuronosyltransferase activity. Here we describe genetic defects that occur in the UGT1
Autor:
Mary J. Roman, Petros Tsipouras, David I. Silverman, Jonathon Gray, Kevin J. Burton, Maureen Boxer, Richard B. Devereux, Allan Bridges
Publikováno v:
Journal of the American College of Cardiology. 26(4):1062-1067
Objectives.We attempted to determine whether a family history of severe cardiovascular disease in patients with the Marfan syndrome is associated with increased aortic dilation or decreased survival, or both.Background.The prognostic importance of a
Autor:
Chelsea Black, Jonathon Gray, D. Baty, Z. | Al-Ghaban, L. McLeish, A. P. Withers, Maureen Boxer
Publikováno v:
Journal of Medical Genetics. 32:135-155
Publikováno v:
Genomics. 23:496-499
Previously the authors mapped the gene encoding a human bile acid UDP-glucuronosyltransferase (UGT2B4) to chromosome 4. Here they report the mapping of two additional human UGT2B genes to chromosome 4 utilizing the polymerase chain reaction (PCR) and
Publikováno v:
Annals of Human Genetics. 56:81-91
Summary DNA probes were prepared from the 5′ -terminal portion of four cDNA clones encoding human phenol and bilirubin UDP-glucuronosyltransferases (UGTs). An additional sequence common to all four clones was isolated from the 3′ -terminal portio
Publikováno v:
Journal of Medical Genetics. 29:81-85
Reaction to medical, social, and genetic implications of Marfan syndrome was evaluated by means of two questionnaires, the first after various tests before discussion of the diagnosis, the second after full discussion of the patient's diagnosis. Thir
Autor:
Maureen Boxer
Publikováno v:
Journal of Clinical Pathology. 53:19-21
The second half of the 20th century was the era in which fundamental questions regarding the genetic basis of biological function were addressed. The emerging discipline of molecular genetics harnessed the newly evolving technologies and the result h
Publikováno v:
Mammalian Genome. 8:692-694