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Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case report.

  • Authors : Reeves A; LSUHSC Department of Pediatrics, New Orleans, Louisiana, USA.; Ojha K

Subjects: Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/diagnosis ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics ; Dwarfism*/Dwarfism*/Dwarfism*/diagnosis FACES syndrome

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3535-3539. Date of Electronic Publication: 2022 Sep 07.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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[Management of retinitis pigmentosa. 8 patients treated for retinitis pigmentosa/Usher syndrome in Cuba].

  • Authors : Hetland JG; Klinikken i Ringhuset, Oslo.

Subjects: Deafness/Deafness/Deafness/*therapy ; Retinitis Pigmentosa/Retinitis Pigmentosa/Retinitis Pigmentosa/*therapy; Adult

  • Source: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke [Tidsskr Nor Laegeforen] 1994 May 20; Vol. 114 (13), pp. 1515-6.Publisher: Norske Laegeforening Country of Publication: Norway NLM ID: 0413423 Publication Model: Print Cited Medium: Print ISSN: 0029-2001

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A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.

  • Authors : Da Pozzo P; Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Italy.; Cardaioli E

Subjects: Ataxia/Ataxia/Ataxia/*genetics ; Brain Diseases/Brain Diseases/Brain Diseases/*genetics ; Deafness/Deafness/Deafness/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2009 Aug; Vol. 17 (8), pp. 1092-6. Date of Electronic Publication: 2009 Feb 18.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness.

  • Authors : Kenna P; Wellcome Ocular Genetics Unit, Trinity College Dublin, Ireland.; Mansergh F

Subjects: Chromosome Aberrations/Chromosome Aberrations/Chromosome Aberrations/*genetics ; Chromosomes, Human, Pair 9/Chromosomes, Human, Pair 9/Chromosomes, Human, Pair 9/*genetics ; Deafness/Deafness/Deafness/*genetics

  • Source: The British journal of ophthalmology [Br J Ophthalmol] 1997 Mar; Vol. 81 (3), pp. 207-13.Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0421041 Publication Model: Print Cited Medium: Print ISSN: 0007-1161 (Print)

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[Retinitis pigmentosa, vitiligo and deaf-mutism. Apropos of a case].

Subjects: Deafness/Deafness/Deafness/*complications ; Mutism/Mutism/Mutism/*complications ; Retinitis Pigmentosa/Retinitis Pigmentosa/Retinitis Pigmentosa/*complications

  • Source: Journal francais d'ophtalmologie [J Fr Ophtalmol] 1994; Vol. 17 (8-9), pp. 501-3.Publisher: Masson Country of Publication: France NLM ID: 7804128 Publication Model: Print Cited Medium: Print ISSN: 0181-5512 (Print) Linking

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Novel syndrome of cataracts, retinitis pigmentosa, late onset deafness and sperm abnormalities: a new Usher syndrome subtype with X-linked inheritance?

  • Authors : Malekpour M; ENT Research Center, Department of Otolaryngology, Head and Neck Surgery, Amir Alam Hospital, Tehran University of Medical Sciences, Tehran, Iran.; Shahidi A

Subjects: Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*genetics ; Cataract/Cataract/Cataract/*pathology ; Deafness/Deafness/Deafness/*pathology

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2007 Jul 15; Vol. 143A (14), pp. 1646-52.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825

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RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.

Subjects: Eye Proteins* ; Mutation*; Carrier Proteins/Carrier Proteins/Carrier Proteins/*genetics

  • Source: Journal of medical genetics [J Med Genet] 2003 Aug; Vol. 40 (8), pp. 609-15.Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print Cited Medium: Internet ISSN:

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Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

  • Authors : Rivolta C; Ocular Molecular Genetics Institute and the Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, 02114, USA.; Sweklo EA

Subjects: Deafness*; Extracellular Matrix Proteins/Extracellular Matrix Proteins/Extracellular Matrix Proteins/*genetics ; Genes, Recessive/Genes, Recessive/Genes, Recessive/*genetics

  • Source: American journal of human genetics [Am J Hum Genet] 2000 Jun; Vol. 66 (6), pp. 1975-8. Date of Electronic Publication: 2000 Apr 20.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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The long-term evolution of a case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency associated with deafness and retinitis pigmentosa.

  • Authors : Jones KJ; Department of Clinical Genetics, Royal Alexandra Hospital for Children, Sydney, Australia.; Wilcken B

Subjects: Deafness/Deafness/Deafness/*etiology ; Oxo-Acid-Lyases/Oxo-Acid-Lyases/Oxo-Acid-Lyases/*deficiency ; Retinitis Pigmentosa/Retinitis Pigmentosa/Retinitis Pigmentosa/*etiology

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 1997 Nov; Vol. 20 (6), pp. 833-4.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Print ISSN: 0141-8955 (Print)

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[Retinitis pigmentosa and associated hearing loss (Usher's syndrome type I) in a 12 year old boy].

Subjects: Deafness/Deafness/Deafness/*etiology ; Retinitis Pigmentosa/Retinitis Pigmentosa/Retinitis Pigmentosa/*etiology; Cafe-au-Lait Spots/Cafe-au-Lait Spots/Cafe-au-Lait Spots/etiology

  • Source: Pediatria polska [Pediatr Pol] 1995 Oct; Vol. 70 (10), pp. 875-7.Publisher: Elsevier Urban & Partner Country of Publication: Poland NLM ID: 2985039R Publication Model: Print Cited Medium: Print ISSN: 0031-3939

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  • 1-10 of  788 results for ""Retinitis Pigmentosa""