Thesis (doctoral)--Loughborough University, 1998. / BLDSC reference no.: DX 208391.

Thesis (M.S.P.H.)--University of Michigan, 1936.

Thesis (M.S.P.H.)--University of Michigan, 1936.

No description available.

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal degenerations which are one of the most common causes of inherited visual handicap. The aims of this study were three fold. Firstly, samples from 81 patients with RP and various other retinal degenerations were screened for mutations in four of the RP candidate genes (rhodopsin, ROM1 peripherin/RDS and CRBP1) by SSCP analysis followed by direct sequencing. Two heterozygous sequence changes, GCC299TCC (ala299ser) and G4084A, were identified in the rhodopsin gene, both of them in isolated cases of RP. Three alterations were found in the ROM1 gene. A heterozygous CGC16CAA (arg16gln) alteration was disease specific in available members of an autosomal dominant RP family and a heterozygous GGG298AGG was found in an isolated case of RP. The third change, CGG223CGC (arg223arg), has been previously reported as a benign polymorphism. Four sequence changes were identified in peripherin/RDS exon 3 (glu304gln, lys310arg, gly338asp and C1302T) all of which have been previously reported as benign polymorphisms. No sequence changes were identified in the CRBP1 gene. Secondly, the RP candidate genes rhodopsin, peripherin/RDS and ROM1 were shown to be illegitimately transcribed in human peripheral blood lymphocytes (PBLs). This allowed an analysis of the effect of three rhodopsin splice site sequence changes on mRNA processing. One of these changes, a heterozygous G5167A change in the 3' acceptor splice site of intron 4 and disease specific in an adRP family was found to abolish normal splicing. The second two changes (GGC120GGT and G4084A) were both found in isolated cases of RP and neither of them is thought to affect mRNA processing. aFinally, RNA arbitrarily primed PCR (RAP-PCR) of PBL RNA was investigated as a means to identify novel RP candidate genes.

No description available.

Diss. (sammanfattning) Stockholm : Karol. inst. / Härtill 6 uppsatser.

Thesis (Ph. D.)--Cornell University, 1902. / Reprinted from the Physical Review, v. 15, no. 4., Oct., 1902.

Thesis (Ph. D.)--Johns Hopkins university, 1933. / Vita. Bibliography: p. 43-46.

The majority of clients in the Federal/State Vocational Rehabilitation program (VR) have been successful in achieving competitive employment in recent years. However, one disability group – clients who are legally blind – has traditionally lagged and currently lags behind in obtaining similar proportions of competitive employment outcomes as their counterparts in the VR system. In this study, the 2007 RSA 911 data were used to explore potential explanations for the discrepancy between outcomes for clients who are legally blind and clients with other disabilities. Similar to previous studies, frequency analyses confirmed that clients who are legally blind are far less likely to obtain a competitive employment outcome in the VR program. Although the most recent data reveals that 62.4% of clients who are legally blind attained a competitive outcome in 2007, 96.6% of clients with other disabilities achieved the same outcome. Backwards stepwise logistic regression generated two models yielding likelihoods of competitive employment for people who are blind and people with other disabilities, respectively. The model that predicts competitive closure for clients who are blind was generally similar to the model that predicts competitive closure for clients with other disabilities. Most of the service variables that predicted competitive outcomes for clients with other disabilities also predicted competitive outcomes for clients who are legally blind. However, the rates with which clients who are legally blind received these services were lower when compared to clients with other disabilities. One difference between the two models was that the variables predictive of competitive employment in both models often had larger odds ratios for clients who are legally blind. The models generated in this study will hopefully provide VR professionals with information that will contribute to helping clients who are legally blind achieve higher percentages of competitive employment outcomes.