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Longer titles found: Retinitis pigmentosa GTPase regulator (view), Neuropathy, ataxia, and retinitis pigmentosa (view), Retinitis Pigmentosa International (view), Posterior column ataxia-retinitis pigmentosa syndrome (view), Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome (view), Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (view)

searching for Retinitis pigmentosa 78 found (701 total)

alternate case: retinitis pigmentosa

PRPF3 (1,048 words) [view diff] exact match in snippet view article find links to article

Gal A (Aug 1996). "A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1". Human Molecular

PRPF8 (1,311 words) [view diff] exact match in snippet view article find links to article

Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. PRPF8 has been shown to interact with WDR57 and EFTUD2. ENSG00000174231

FSCN2 (588 words) [view diff] exact match in snippet view article find links to article

mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different

List of feline diseases (456 words) [view diff] exact match in snippet view article find links to article

Aujeszky), originating from swine Psychogenic alopecia Pyometra Rabies Retinitis pigmentosa Salmonellosis Tetanus Thelaziasis Toxocariasis Toxoplasmosis caused

Cyclic nucleotide-gated channel alpha 1 (1,217 words) [view diff] exact match in snippet view article find links to article

alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa". Proceedings of the National Academy of Sciences of the United States

Frank Bassen (423 words) [view diff] exact match in snippet view article find links to article

reduction or even absence of B-lipoproteins. Complications include retinitis pigmentosa, degenerative changes in the central nervous system involving the

List of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article

LRAT Retinitis pigmentosa 33; 610359; SNRNP200 Retinitis pigmentosa 51; 613464; TTC8 Retinitis pigmentosa 54; 613428; C2orf71 Retinitis pigmentosa 55;

Abraham Kornzweig (829 words) [view diff] case mismatch in snippet view article find links to article

of atypical Retinitis Pigmentosa". Blood. 5 (4): 381–387. Abraham L. Kornzweig, M.D.; Frank A. Bassen M.D. (1957). "Retinitis Pigmentosa, Acanthocytosis

Robert Devenyi (207 words) [view diff] case mismatch in snippet view article find links to article

patients who are totally blind from degenerative diseases such as Retinitis Pigmentosa. Devenyi, RG (2006). "Update on the modern management of wet age-related

William Beltran (478 words) [view diff] exact match in snippet view article find links to article

collaborate Aguirre while focusing his research on therapies for retinitis pigmentosa. Together, they developed gene therapies to treat canine models of

CC2D2A (611 words) [view diff] exact match in snippet view article find links to article

domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa". Am. J. Hum. Genet. 83 (5): 656. doi:10.1016/j.ajhg.2008.10.005

Carbonic anhydrase 4 (1,408 words) [view diff] exact match in snippet view article find links to article

Bhattacharya SS (1995). "An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q". Hum. Mol. Genet. 4 (8): 1459–62. doi:10

MT-TP (910 words) [view diff] no match in snippet view article find links to article

addition, MT-TP mutations have been associated with late-onset ataxia, retinitis, pigmentosa, deafness, leukoencephalopathy, and complex IV deficiency. Anderson

ARL3 (850 words) [view diff] exact match in snippet view article find links to article

Schwahn U, Lewis SA, Cowan NJ (2002). "Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C". J. Biol

USH2A (1,111 words) [view diff] exact match in snippet view article find links to article

"Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss". Am. J. Hum. Genet. 66 (6): 1975–8. doi:10

Saul Merin (643 words) [view diff] exact match in snippet view article find links to article

the original on 2013-04-15. Merin S (1982). "Cataract formation in retinitis pigmentosa". Birth Defects Orig. Artic. Ser. 18 (6): 187–91. PMID 7171754. Ticho

Hemicentin 1 (645 words) [view diff] exact match in snippet view article find links to article

"An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa". Neurology. 49 (6): 1717–20. doi:10.1212/wnl.49.6.1717. PMID 9409377

SAG (gene) (961 words) [view diff] exact match in snippet view article

(1998). "Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness". Invest. Ophthalmol. Vis. Sci. 39

José-Alain Sahel (2,102 words) [view diff] exact match in snippet view article find links to article

central vision loss through degeneration of photoreceptor cells (retinitis pigmentosa genetic) and age-related degeneration (AMD). One of the major discoveries

Kelch-like protein 7 (478 words) [view diff] case mismatch in snippet view article find links to article

"Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa". Am J Hum Genet. 84 (6): 792–800. doi:10.1016/j.ajhg.2009.05.007

Thaddeus Dryja (575 words) [view diff] exact match in snippet view article find links to article

seminal discoveries relating to the pathogenesis of retinoblastoma and retinitis pigmentosa and identified the mutant genes causing these conditions". His inaugural

Refsum disease (1,342 words) [view diff] exact match in snippet view article find links to article

skin (ichthyosis), difficulty hearing, and eye problems including retinitis pigmentosa, cataracts, and night blindness. In 80% of patients diagnosed with

TOPORS (1,034 words) [view diff] exact match in snippet view article find links to article

Bhattacharya SS (Oct 2007). "Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy". Am J Hum Genet

AIPL1 (994 words) [view diff] exact match in snippet view article find links to article

CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa". J. Med. Genet. 42 (11): e67. doi:10.1136/jmg.2005.035121. PMC 1735944

CRX (gene) (1,411 words) [view diff] exact match in snippet view article

1999). "A mutation in NRL is associated with autosomal dominant retinitis pigmentosa". Nature Genetics. 21 (4): 355–6. doi:10.1038/7678. PMID 10192380

ELOVL4 (2,114 words) [view diff] exact match in snippet view article find links to article

Gomez CM (October 2019). "A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation". Neurology. Genetics. 5 (5): e357

CNGB1 (628 words) [view diff] exact match in snippet view article find links to article

homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers". Invest. Ophthalmol. Vis. Sci. 45

OPN1LW (2,372 words) [view diff] exact match in snippet view article find links to article

Kljavin IJ, Milam AH (1995). "Rod photoreceptor neurite sprouting in retinitis pigmentosa". J. Neurosci. 15 (8): 5429–38. doi:10.1523/JNEUROSCI.15-08-05429

OPN1MW (536 words) [view diff] exact match in snippet view article find links to article

Kljavin IJ, Milam AH (1995). "Rod photoreceptor neurite sprouting in retinitis pigmentosa". J. Neurosci. 15 (8): 5429–38. doi:10.1523/JNEUROSCI.15-08-05429

OPN1MW (536 words) [view diff] exact match in snippet view article find links to article

Kljavin IJ, Milam AH (1995). "Rod photoreceptor neurite sprouting in retinitis pigmentosa". J. Neurosci. 15 (8): 5429–38. doi:10.1523/JNEUROSCI.15-08-05429

NPHP4 (658 words) [view diff] exact match in snippet view article find links to article

Hildebrandt F (Oct 2002). "A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution".

RPGRIP1L (952 words) [view diff] case mismatch in snippet view article find links to article

Regulates Expression of the Fat Mass and Obesity-associated and Retinitis Pigmentosa GTPase Regulator-interacting Protein-1-like (RPGRIP1L) Genes and

ARR3 (828 words) [view diff] exact match in snippet view article find links to article

of cone molecular markers in rhodopsin-mutant human retinas with retinitis pigmentosa". Mol. Vis. 6: 204–15. PMID 11063754. Chen Z, Dupré DJ, Le Gouill

TTC8 (634 words) [view diff] exact match in snippet view article find links to article

splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa". Am. J. Hum. Genet. 86 (5): 805–12. doi:10.1016/j.ajhg.2010.04.001

Gholam A. Peyman (2,006 words) [view diff] exact match in snippet view article find links to article

artificial silicon retina microchip for the treatment of vision loss from retinitis pigmentosa (2004) Testing intravitreal toxicity of Bevacizumab (Avastin), (2006)

GUCA1B (676 words) [view diff] case mismatch in snippet view article find links to article

Ophthalmologie. 243 (3): 235–42. doi:10.1007/s00417-004-1015-7. PMID 15452722. S2CID 23347858. GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview v t e

List of diseases (N) (654 words) [view diff] exact match in snippet view article

Nevo syndrome Nevoid basal cell carcinoma syndrome Nevus of ota retinitis pigmentosa Nevus sebaceus of Jadassohn Nezelof syndrome Nicolaides–Baraitser

INVS (808 words) [view diff] exact match in snippet view article find links to article

S2CID 4427026. O'Toole JF, Otto EA, Frishberg Y, Hildebrandt F (2007). "Retinitis pigmentosa and renal failure in a patient with mutations in INVS". Nephrol.

MFRP (441 words) [view diff] exact match in snippet view article find links to article

autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation"

IMPG1 (499 words) [view diff] exact match in snippet view article find links to article

analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus". Curr. Eye Res. 30 (12): 1081–7. doi:10.1080/02713680500351039

ELOVL5 (495 words) [view diff] exact match in snippet view article find links to article

candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa". Int. J. Mol. Med. 16 (6): 1163–7. doi:10.3892/ijmm.16.6.1163. PMID 16273301

Diffuse unilateral subacute neuroretinitis (307 words) [view diff] exact match in snippet view article find links to article

findings of this condition are often misinterpreted as unilateral retinitis pigmentosa. DUSN may be caused by a helminthic infection with Toxocara canis

CLRN1 (667 words) [view diff] case mismatch in snippet view article find links to article

PMID 15650299. S2CID 32183013. GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview Human CLRN1 genome location and CLRN1 gene details page

NPHP1 (1,198 words) [view diff] exact match in snippet view article find links to article

Hildebrandt F (Nov 2002). "A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution".

Dorzolamide (625 words) [view diff] exact match in snippet view article find links to article

dorzolamide for the treatment of cystoid macular edema in patients with retinitis pigmentosa". Am J Ophthalmol. 141 (5): 850–8. doi:10.1016/j.ajo.2005.12.030

NPHP1 (1,198 words) [view diff] exact match in snippet view article find links to article

Hildebrandt F (Nov 2002). "A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution".

Explant culture (739 words) [view diff] no match in snippet view article find links to article

therapy is an active area of research to treat macular degeneration, retinitis, pigmentosa, and glaucoma. "Explant Culture for Developmental Studies | Protocol"

DFNB31 (642 words) [view diff] exact match in snippet view article find links to article

2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss". Hum Genet. 121 (2): 203–11. doi:10

SRPX (569 words) [view diff] exact match in snippet view article find links to article

sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa". Hum Mol Genet. 4 (12): 2339–46. doi:10.1093/hmg/4.12.2339. PMID 8634708

SMAP1 (593 words) [view diff] exact match in snippet view article find links to article

candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa". Int. J. Mol. Med. 16 (6): 1163–7. doi:10.3892/ijmm.16.6.1163. PMID 16273301

Lecithin retinol acyltransferase (902 words) [view diff] case mismatch in snippet view article find links to article

Am. J. Ophthalmol. 142 (4): 702–4. doi:10.1016/j.ajo.2006.04.057. PMID 17011878. GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview v t e

Cav1.4 (1,081 words) [view diff] exact match in snippet view article find links to article

stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region". Hum. Mol. Genet. 4 (5): 931–5. doi:10.1093/hmg/4.5

IFT88 (850 words) [view diff] exact match in snippet view article find links to article

Williams DS, Swaroop A (2005). "RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins"

PRPF6 (1,173 words) [view diff] case mismatch in snippet view article find links to article

Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931. GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview v t e

IFT88 (850 words) [view diff] exact match in snippet view article find links to article

Williams DS, Swaroop A (2005). "RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins"

IFT140 (687 words) [view diff] exact match in snippet view article find links to article

A syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur". American Journal of Medical

RDH5 (943 words) [view diff] exact match in snippet view article find links to article

gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa". Ophthalmic Res. 36 (1): 43–50. doi:10.1159/000076109. PMID 15007239

List of diseases (D) (1,155 words) [view diff] exact match in snippet view article

lung disease Dwarfism Dwarfism bluish sclerae Dwarfism deafness retinitis pigmentosa Dwarfism lethal type advanced bone age Dwarfism mental retardation

TIMP3 (999 words) [view diff] exact match in snippet view article find links to article

"Expression of TIMP3 mRNA is elevated in retinas affected by simplex retinitis pigmentosa". FEBS Lett. 352 (2): 171–4. doi:10.1016/0014-5793(94)00951-1. PMID 7925969

MDH1 (770 words) [view diff] exact match in snippet view article find links to article

throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa". Molecular Vision. 15: 2627–33. PMC 2790479. PMID 20011630. Tanaka

Visual field test (1,470 words) [view diff] exact match in snippet view article find links to article

1986). "Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa". Ophthalmology. 93 (12): 1604–11. doi:10.1016/s0161-6420(86)33522-x

RIMS1 (1,342 words) [view diff] exact match in snippet view article find links to article

Antiñolo G (2005). "Molecular analysis of RIM1 in autosomal recessive Retinitis pigmentosa". Ophthalmic Res. 37 (2): 89–93. doi:10.1159/000084250. PMID 15746564

Complete Genomics (1,403 words) [view diff] exact match in snippet view article find links to article

PMID 24076603. Nishiguchi KM; et al. (2012). "Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population"

Kinesin-associated protein 3 (1,072 words) [view diff] exact match in snippet view article find links to article

Hurd TW, Lillo C, et al. (2005). "RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins"

IRS2 (1,479 words) [view diff] exact match in snippet view article find links to article

RM, Nayudu M, et al. (1997). "Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion

Mitochondrial dicarboxylate carrier (1,979 words) [view diff] exact match in snippet view article find links to article

DS, Swaroop A (September 2005). "RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins"

Neuroprosthetics (5,486 words) [view diff] exact match in snippet view article find links to article

photoreceptor loss is age related macular degeneration (AMD) and retinitis pigmentosa (RP). The first clinical trial of a permanently implanted retinal

Mitochondrial dicarboxylate carrier (1,979 words) [view diff] exact match in snippet view article find links to article

DS, Swaroop A (September 2005). "RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins"

Transportin 1 (1,531 words) [view diff] exact match in snippet view article find links to article

Science 1997 110: 1325-1331; Toby W. Hurd (2011). Localization of retinitis pigmentosa 2 to cilia is regulated by Importin β2. J Cell Sci 2011 124: 718-726;

CD133 (2,290 words) [view diff] case mismatch in snippet view article find links to article

1158/1078-0432.CCR-08-1883. PMID 19509143. GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview Human PROM1 genome location and PROM1 gene details page

Lindy DeKoven (930 words) [view diff] case mismatch in snippet view article find links to article

Story Academy of TV Arts and Sciences: Development and Service Award Retinitis Pigmentosa Vision Award: “Lindy DeKoven Woman of Vision Award” Entertainment

Chromosome 6 (2,422 words) [view diff] exact match in snippet view article find links to article

retinal cone dystrophy 1 RFPL4B: Ret finger protein like 4B RP63: retinitis pigmentosa 63 SASH1: SAM and SH3 domain containing 1 (6q24.3-q25.1) SCZD5: schizophrenia

Chesapeake Bay Retriever (2,527 words) [view diff] exact match in snippet view article find links to article

rod–cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans". Proceedings of the National Academy of Sciences

William Gowers (neurologist) (1,461 words) [view diff] exact match in snippet view article

English Language. Their two sisters, Edith and Evelyn, developed retinitis pigmentosa in early adult life. Ernest was grandfather of the composer Patrick

Precision BioSciences (1,642 words) [view diff] case mismatch in snippet view article find links to article

Stephen H. (2020). "Therapy in Rhodopsin-Mediated Autosomal Dominant Retinitis Pigmentosa". Molecular Therapy. 28 (10): 2139–2149. doi:10.1016/j.ymthe.2020

List of diseases (H) (1,717 words) [view diff] exact match in snippet view article

mental retardation Hypogonadism primary partial alopecia Hypogonadism retinitis pigmentosa Hypogonadism, isolated, hypogonadotropic Hypogonadism Hypogonadotropic

STV Children's Appeal (1,294 words) [view diff] exact match in snippet view article find links to article

donated £400 to the STV Children's Appeal. Ms Campbell, who has retinitis pigmentosa, told STV News: "I just really like Sean Batty and it was easy to

U2 small nuclear RNA auxiliary factor 1 (1,784 words) [view diff] exact match in snippet view article find links to article

2004). "PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor". Exp. Cell Res. 300 (2): 283–96. doi:10.1016/j