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
2008 1
2009 1
2012 1
2013 1
2014 1
2015 2
2016 1
2020 1
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

8 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Hearing loss, autosomal recessive 99"
Page 1
Hearing Loss in Enlarged Vestibular Aqueduct: A Prognostic Factor Systematic Review of the Literature.
Saeed HS, Kenth J, Black G, Saeed SR, Stivaros S, Bruce IA. Saeed HS, et al. Otol Neurotol. 2021 Jan;42(1):99-107. doi: 10.1097/MAO.0000000000002843. Otol Neurotol. 2021. PMID: 33026783
CONCLUSIONS: The majority of exploratory prognostic factor studies for hearing loss associated with enlarged vestibular aqueduct are hampered by risk of bias. ...This would determine the true independent prognostic effects associated with hearing loss …
CONCLUSIONS: The majority of exploratory prognostic factor studies for hearing loss associated with enlarged vestibular aquedu …
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
Lu YJ, Yao J, Wei QJ, Xing GQ, Cao X. Lu YJ, et al. Medicine (Baltimore). 2015 Dec;94(50):e2248. doi: 10.1097/MD.0000000000002248. Medicine (Baltimore). 2015. PMID: 26683941 Free PMC article. Review.
Diagnostic accuracy of SLC26A4 mutation results also identified the significant association of IVS7-2A>G (AUC = 0.99, 95% CI: 0.97-0.99) and p.H723R (AUC = 0.99, 95% CI: 0.98-1.00) detecting deafness with EVA. To conclude, the IVS7-2A>G and H723R in SLC …
Diagnostic accuracy of SLC26A4 mutation results also identified the significant association of IVS7-2A>G (AUC = 0.99, 95% CI: 0.97 …
Re-assigning the DFNB33 locus to chromosome 10p11.23-q21.1.
Belguith H, Masmoudi S, Medlej-Hashim M, Chouery E, Weil D, Ayadi H, Petit C, Mégarbané A. Belguith H, et al. Eur J Hum Genet. 2009 Jan;17(1):122-4. doi: 10.1038/ejhg.2008.155. Epub 2008 Sep 10. Eur J Hum Genet. 2009. PMID: 18781188 Free PMC article.
Homozygosity mapping is a powerful resource for mapping and identifying loci and genes responsible for autosomal recessive disorders. Nevertheless, it could result in the identification of several homozygous regions unrelated to the disease locus or non-informative …
Homozygosity mapping is a powerful resource for mapping and identifying loci and genes responsible for autosomal recessive dis …
DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.
Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T. Vona B, et al. Clin Genet. 2015;87(1):49-55. doi: 10.1111/cge.12332. Epub 2014 Jan 21. Clin Genet. 2015. PMID: 26011646 Free PMC article.
Increasing attention has been directed toward assessing mutational fallout of stereocilin (STRC), the gene underlying DFNB16. A major challenge is due to a closely linked pseudogene with 99.6% coding sequence identity. In 94 GJB2/GJB6-mutation negative individuals with non …
Increasing attention has been directed toward assessing mutational fallout of stereocilin (STRC), the gene underlying DFNB16. A major challe …
Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.
Namburi P, Ratnapriya R, Khateb S, Lazar CH, Kinarty Y, Obolensky A, Erdinest I, Marks-Ohana D, Pras E, Ben-Yosef T, Newman H, Gross M, Swaroop A, Banin E, Sharon D. Namburi P, et al. Am J Hum Genet. 2016 Sep 1;99(3):777-784. doi: 10.1016/j.ajhg.2016.07.010. Am J Hum Genet. 2016. PMID: 27588452 Free PMC article.
The present study was designed to identify genetic defects in individuals with an uncommon combination of autosomal recessive progressive cone-rod degeneration accompanied by sensorineural hearing loss (arCRD-SNHL). ...RT-PCR analysis of CEP78 in blood …
The present study was designed to identify genetic defects in individuals with an uncommon combination of autosomal recessive …
A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family.
Fu J, Shen S, Cheng J, Lv H, Fu J. Fu J, et al. J Cell Mol Med. 2020 Jul;24(14):7743-7750. doi: 10.1111/jcmm.15405. Epub 2020 May 25. J Cell Mol Med. 2020. PMID: 32449591 Free PMC article.
Usher syndrome encompasses a group of genetically and clinically heterogeneous autosomal recessive disorders with hearing deficiencies and retinitis pigmentosa. ...The variant was not included in the 1000 Human Genomes Project database, ExAC database, HGMD or …
Usher syndrome encompasses a group of genetically and clinically heterogeneous autosomal recessive disorders with hearing …
Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis.
Zolotov D, Wagner S, Kalb K, Bunia J, Heibges A, Klingel R. Zolotov D, et al. J Clin Apher. 2012;27(2):99-105. doi: 10.1002/jca.21200. Epub 2012 Jan 20. J Clin Apher. 2012. PMID: 22267052
Refsum's disease is a rare autosomal recessive disorder of fatty acid metabolism. Poorly metabolized phytanic acid accumulates in fatty tissues, including myelin sheaths and internal organs, leading to retinitis pigmentosa, peripheral polyneuropathy, cerebellar atax …
Refsum's disease is a rare autosomal recessive disorder of fatty acid metabolism. Poorly metabolized phytanic acid accumulates …
Enlarged cochlear aqueducts: a potential route for CSF gushers in patients with enlarged vestibular aqueducts.
Kim BG, Sim NS, Kim SH, Kim UK, Kim S, Choi JY. Kim BG, et al. Otol Neurotol. 2013 Dec;34(9):1660-5. doi: 10.1097/MAO.0b013e3182a036e4. Otol Neurotol. 2013. PMID: 24232063

MAIN OUTCOME MEASURES: The diameters of the CA and vestibular aqueduct (VA) were measured, and the type of CA was evaluated using TBCT. RESULTS: The CA was larger in patients with EVA (2.39 0.99 mm) as compared with controls (1.76 0.87 mm; p < 0.001). The types that cou

…
MAIN OUTCOME MEASURES: The diameters of the CA and vestibular aqueduct (VA) were measured, and the type of CA was evaluated using TBCT. RESU …