Genetics of classic Alport's syndrome
…, C Chantler, JS Cameron, I Houston, M Bobrow - The Lancet, 1988 - Elsevier
Abstract 41 families with classic Alport's syndrome (hereditary nephritis with sensorineural
deafness) were studied. All their pedigrees were compatible with X-linked inheritance. DNA …
deafness) were studied. All their pedigrees were compatible with X-linked inheritance. DNA …
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations
RG Roberts, RJ Gardner, M Bobrow - Human mutation, 1994 - Wiley Online Library
The past few years have seen a rapid increase in our knowledge of naturally occurring
mutations in the dystrophin gene. Although earlier studies were limited to gross …
mutations in the dystrophin gene. Although earlier studies were limited to gross …
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
…, L Hammarström, C Kinnon, R Levinsky, M Bobrow… - Nature, 1993 - nature.com
X-linked agammaglobulinaemia (XLA) is a human immunodeficiency caused by failure of
pre-B cells in the bone marrow to develop into circulating mature B cells. A novel gene has …
pre-B cells in the bone marrow to develop into circulating mature B cells. A novel gene has …
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
…, ME Pembrey, J Holland, BA Oostra, M Bobrow… - Cell, 1993 - cell.com
We have cloned the fragile site FRAXE and demonstrate that individuals wlth this fragile site
posseas ampllficatlons of a GCC repeat adjacent to a CpG Island in Xq28 of the human X …
posseas ampllficatlons of a GCC repeat adjacent to a CpG Island in Xq28 of the human X …
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
…, M Field, C Skinner, RE Stevenson, M Bobrow… - Nature …, 2009 - nature.com
Large-scale systematic resequencing has been proposed as the key future strategy for the
discovery of rare, disease-causing sequence variants across the spectrum of human …
discovery of rare, disease-causing sequence variants across the spectrum of human …
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability …
…, R Winter, L Colleaux, M Bobrow… - Journal of medical …, 2004 - jmg.bmj.com
The underlying causes of learning disability and dysmorphic features in many patients
remain unidentified despite extensive investigation. Routine karyotype analysis is not …
remain unidentified despite extensive investigation. Routine karyotype analysis is not …
Catalyzed reporter deposition, a novel method of signal amplification application to immunoassays
MN Bobrow, TD Harris, KJ Shaughnessy… - Journal of immunological …, 1989 - Elsevier
A novel signal amplification method, catalyzed reporter deposition (CARD), and its
application to immunoassays is described. The method involves utilizing an analyte …
application to immunoassays is described. The method involves utilizing an analyte …
Polygenic susceptibility to breast cancer and implications for prevention
The knowledge of human genetic variation that will come from the human genome
sequence makes feasible a polygenic approach to disease prevention, in which it will be …
sequence makes feasible a polygenic approach to disease prevention, in which it will be …
[HTML][HTML] Genetic information and testing in insurance and employment: technical, social and ethical issues
B Godard, S Raeburn, M Pembrey, M Bobrow… - European Journal of …, 2003 - nature.com
The present paper examines the professional and scientific views on the social, ethical and
legal issues that impact on genetic information and testing in insurance and employment in …
legal issues that impact on genetic information and testing in insurance and employment in …
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy
…, NST Thomas, SE Bodrug, AHM Burghes, M Bobrow… - Science, 1988 - science.org
Duchenne muscular dystrophy (DMD) and its less severe form Becker muscular dystrophy
(BMD) are allelic disorders. It has been suggested that in the mutations involving BMD, the …
(BMD) are allelic disorders. It has been suggested that in the mutations involving BMD, the …