Rodney Harris

TL;DR: The present investigation has sought to clarify the CYP21 and C4 gene organization in members of 32 British 21‐hydroxylase deficiency families by employing additional experimental approaches, notably a long‐range restriction mapping approach, which permits assessment through a VNTR type of analysis, of the number of CYP23 + C4 units on individual haplotypes.

TL;DR: Results clearly indicate that the production of PRA in recipients of renal transplants is associated with antidonor reactivity and poor graft outcome, and the fact that these PRA were often directed against donor HLA antigens emphasizes one of the hazards of mismatching for HLA at transplantation.

TL;DR: It is demonstrated close linkage between the locus for the autosomal dominant Waardenburg syndrome type I and the placental alkaline phosphatase locus on chromosome 2q37 and in the mouse the Splotch locus maps to near the homologous position.

TL;DR: SEM has allowed a more precise location of the fragile site to the Xq27 .

TL;DR: There is a need for a coordinated European effort to improve primary care physicians’ background in medical genetics to improve their ability to carry out basic medical genetic tasks.