Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2013 1
2014 1
2020 2
2021 2
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

6 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Cone-rod dystrophy and hearing loss 1"
Page 1
Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B.
Roberts L, Julius S, Dawlat S, Yildiz S, Rebello G, Meldau S, Pillay K, Esterhuizen A, Vorster A, Benefeld G, da Rocha J, Beighton P, Sellars SL, Thandrayen K, Pettifor JM, Ramesar RS. Roberts L, et al. Hum Mutat. 2020 Nov;41(11):1871-1876. doi: 10.1002/humu.24094. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32827185
The RRM2B gene is involved in mitochondrial integrity, and the observed change was not previously reported in any genomic database. The subsequent screening revealed the variant in two newly presenting unrelated patients, as well as two patients in our registry with rod …
The RRM2B gene is involved in mitochondrial integrity, and the observed change was not previously reported in any genomic database. T …
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
Khateb S, Mohand-Saïd S, Nassisi M, Bonnet C, Roux AF, Andrieu C, Antonio A, Condroyer C, Zeitz C, Devisme C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel JA, Audo I. Khateb S, et al. Retina. 2020 Aug;40(8):1603-1615. doi: 10.1097/IAE.0000000000002636. Retina. 2020. PMID: 31479088
PURPOSE: To document the rod-cone dystrophy phenotype of patients with Usher syndrome type 1 (USH1) harboring MYO7A mutations. ...Functional visual characteristics of this subset of patients followed a linear decline as in other typical rod-c …
PURPOSE: To document the rod-cone dystrophy phenotype of patients with Usher syndrome type 1 (USH1) harboring MY …
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
Jurkute N, Shanmugarajah PD, Hadjivassiliou M, Higgs J, Vojcic M, Horrocks I, Nadjar Y, Touitou V, Lenaers G, Poh R, Acheson J, Robson AG, Raymond FL, Reilly MM, Yu-Wai-Man P, Moore AT, Webster AR, Arno G; Genomics England Research Consortium. Jurkute N, et al. Invest Ophthalmol Vis Sci. 2021 May 3;62(6):2. doi: 10.1167/iovs.62.6.2. Invest Ophthalmol Vis Sci. 2021. PMID: 33938912 Free PMC article.
In addition to bilateral optic atrophy and variable extra-ocular findings, 7 of 10 individuals manifested retinal dystrophy comprising dysfunction and degeneration of both rod and cone photoreceptors. Five of 10 subjects had sensorineural hearing lo …
In addition to bilateral optic atrophy and variable extra-ocular findings, 7 of 10 individuals manifested retinal dystrophy comprisin …
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.
Murch O, Jain V, Benneche A, Metcalfe K, Hobson E, Prescott K, Chandler K, Ghali N, Carmichael J, Foulds NC, Paulsen J, Smeland MF, Berland S, Fry AE. Murch O, et al. Eur J Hum Genet. 2022 Jan;30(1):95-100. doi: 10.1038/s41431-021-00961-3. Epub 2021 Oct 14. Eur J Hum Genet. 2022. PMID: 34645992 Free PMC article. Review.
The results demonstrate WHSUS is associated with variable developmental delay or intellectual disability, increased risk of obesity, visual defects, craniofacial dysmorphism, sensorineural hearing loss, feeding problems, seizures, and structural brain malformations. …
The results demonstrate WHSUS is associated with variable developmental delay or intellectual disability, increased risk of obesity, visual …
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.
Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ. Ebermann I, et al. Hum Mutat. 2007 Jun;28(6):571-7. doi: 10.1002/humu.20478. Hum Mutat. 2007. PMID: 17301963
We have identified a consanguineous family from Morocco segregating autosomal recessive congenital progressive hearing loss (ARNSHL) and retinal degeneration. Detailed clinical investigation of the six siblings revealed combined severe cone-rod dyst …
We have identified a consanguineous family from Morocco segregating autosomal recessive congenital progressive hearing loss (A …
Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.
Srikrupa NN, Meenakshi S, Arokiasamy T, Murali K, Soumittra N. Srikrupa NN, et al. Ophthalmic Genet. 2014 Jun;35(2):119-24. doi: 10.3109/13816810.2013.793363. Epub 2013 May 2. Ophthalmic Genet. 2014. PMID: 23638917
BACKGROUND: Thiamine responsive megaloblastic anemia syndrome (TRMA), an autosomal recessive disorder is caused by mutations in the SLC19A2 gene which encodes for thiamine transporter 1 (THTR1) protein. TRMA presents with a triad of clinical features that includes diabetes …
BACKGROUND: Thiamine responsive megaloblastic anemia syndrome (TRMA), an autosomal recessive disorder is caused by mutations in the SLC19A2 …