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346 results

  1. RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK549574
    ... Disorders View in own window Gene MOI Disorder Reference RPE65 AR Typical retinitis pigmentosa (RP type 20) 1 Nonsyndromic Retinitis Pigmentosa Overview ...
  2. Nonsyndromic Retinitis Pigmentosa Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1417
    ... Retinitis Pigmentosa in a Proband Management of Nonsyndromic Retinitis Pigmentosa Genetic Risk Assessment Resources Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  3. NLM Digital Collections - Index-catalogue of the Library of the Surgeon-General's Office, United States Army. Authors ... 
    Publication: Washington : G.P.O., 1880-1932
    resource.nlm.nih.gov/8104689X12
    ... 196; 204; 213; 220; 229.—Coleman (W. F.) Retinitis pigmentosa, with special reference to the question whether it affords evi- dence of degeneration resulting from the marriage of near kin. N. Am. Practitioner. ... of retinitis pigmentosa. Ibid., 249-252.— C'owcll (G.) Inflammation of ...
  4. Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1169
    ... View in own window Gene Disorder(s) GeneReview / Reference CABP4 1 Cone rod dystrophy Retinitis pigmentosa Leber congenital amaurosis Leber Congenital Amaurosis / Early-Onset ...
  5. NLM Digital Collections - The pituitary-adrenocortical function : ACTH, cortisone and related compounds; a bibliography 
    Publication: Washington D. C. : Army Medical Library, 1950
    resource.nlm.nih.gov/59910400R
    ... patients with iridocyclitis and choriditis was dramatic . . . with retinitis pigmentosa . . . temporarily beneficial. " 7 references. 1093. Greer, M. A., and Brown, B. R. ...
  6. Oral-Facial-Digital Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1188
    ... males with Joubert syndrome, primary ciliary dyskinesia, and retinitis pigmentosa (see Table 3 ; reviewed in [ Pezzella et al 2022 ]). Table 3. OFD1 Allelic Disorders View in own window Disorder References OFD1 -related Joubert syndrome Coene et al [2009] , ...
  7. Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK531510
    ... Review Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. Weleber RG, Francis PJ, Trzupek KM, Beattie C. GeneReviews(®). 1993 Review Nonsyndromic Retinitis Pigmentosa Overview. [GeneReviews(®). 1993] Review Nonsyndromic Retinitis Pigmentosa Overview. ...
  8. Usher Syndrome | MedlinePlus 
    https://medlineplus.gov/ushersyndrome.html
    ... on Deafness and Other Communication Disorders Learn More Retinitis Pigmentosa (Foundation Fighting Blindness) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  9. NLM Digital Collections - Report of an examination of the eyes of one hundred and sixty-seven inmates of the ... 
    Publication: [Philadelphia?] : [publisher not identified], [1873]
    resource.nlm.nih.gov/101667272
    ... vitreous, or an insensitive retina. The subject of retinitis pigmentosa is of sufficient interest to warrant a brief reference to the history of these cases. J. M, ...
  10. NLM Digital Collections - Diseases of the eye : a handbook of ophthalmic practice for students and practitioners 
    Publication: Philadelphia : W.B. Saunders Company, 1924
    resource.nlm.nih.gov/51910750R
    ... in brief summary the ones usually made with reference to the pathology and pathologic anatomy of retinitis pigmentosa. Quite recently E. Treacher Collins has advocated an ...
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