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120 results
  1. Retinitis pigmentosa: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa
    ... gov Catalog of Genes and Diseases from OMIM RETINITIS PIGMENTOSA; RP Scientific Articles on PubMed PubMed References Daiger SP, Bowne SJ, Sullivan LS. Perspective on ...
  2. Neuropathy, ataxia, and retinitis pigmentosa: MedlinePlus Genetics 
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa
    ... Genes and Diseases from OMIM NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA Scientific Articles on PubMed PubMed References Ball M, Thorburn DR, Rahman S. Mitochondrial DNA-Associated ...
  3. 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 ...
  4. 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 ...
  5. TRNT1 deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/trnt1-deficiency
    ... CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM Scientific Articles on PubMed PubMed References Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady ...
  6. PRPH2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/prph2
    ... PERIPHERIN 2; PRPH2 MACULAR DYSTROPHY, PATTERNED, 1; MDPT1 RETINITIS PIGMENTOSA 7; RP7 Gene and Variant Databases NCBI Gene ClinVar References Boon CJ, den Hollander AI, Hoyng CB, Cremers ...
  7. 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 ...
  8. CRB1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/crb1
    ... PubMed Catalog of Genes and Diseases from OMIM RETINITIS PIGMENTOSA 12; RP12 CRUMBS CELL POLARITY COMPLEX COMPONENT 1; CRB1 Gene and Variant Databases NCBI Gene ClinVar References den Hollander AI, Davis J, van der Velde- ...
  9. RPGR gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/rpgr
    ... AND SINORESPIRATORY INFECTIONS WITH OR WITHOUT DEAFNESS; RPSRDF RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 Gene and Variant Databases NCBI Gene ClinVar References Ayyagari R, Demirci FY, Liu J, Bingham EL, ...
  10. 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] , ...
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