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
2015 1
2016 1
2017 1
2020 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

4 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Hearing loss, autosomal recessive 57"
Page 1
AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial.
Lv J, Wang H, Cheng X, Chen Y, Wang D, Zhang L, Cao Q, Tang H, Hu S, Gao K, Xun M, Wang J, Wang Z, Zhu B, Cui C, Gao Z, Guo L, Yu S, Jiang L, Yin Y, Zhang J, Chen B, Wang W, Chai R, Chen ZY, Li H, Shu Y. Lv J, et al. Lancet. 2024 May 25;403(10441):2317-2325. doi: 10.1016/S0140-6736(23)02874-X. Epub 2024 Jan 24. Lancet. 2024. PMID: 38280389 Clinical Trial.
BACKGROUND: Autosomal recessive deafness 9, caused by mutations of the OTOF gene, is characterised by congenital or prelingual, severe-to-complete, bilateral hearing loss. ...In this Article, we report the safety and efficacy of gene therapy with an ad …
BACKGROUND: Autosomal recessive deafness 9, caused by mutations of the OTOF gene, is characterised by congenital or prelingual …
Respiratory manifestations in 38 patients with Alström syndrome.
Boerwinkle C, Marshall JD, Bryant J, Gahl WA, Olivier KN, Gunay-Aygun M. Boerwinkle C, et al. Pediatr Pulmonol. 2017 Apr;52(4):487-493. doi: 10.1002/ppul.23607. Epub 2016 Dec 28. Pediatr Pulmonol. 2017. PMID: 28029746 Free PMC article.
OBJECTIVES: Alstrom syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, hypertriglyceridemia, cardiomyopathy, hepatorenal disease, and recurrent respiratory infection …
OBJECTIVES: Alstrom syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing l …
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S. Nasser H, et al. J Med Genet. 2020 Jun;57(6):389-399. doi: 10.1136/jmedgenet-2019-106474. Epub 2020 Feb 3. J Med Genet. 2020. PMID: 32015000 Clinical Trial.
BACKGROUND: Primary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders mainly affecting cortical development and resulting in a congenital impairment of brain growth. Despite the identification of >25 causal genes so far, it r …
BACKGROUND: Primary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders mainly affecting c …
Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population.
Taniguchi M, Matsuo H, Shimizu S, Nakayama A, Suzuki K, Hamajima N, Shinomiya N, Nishio S, Kosugi S, Usami S, Ito J, Kitajiri S. Taniguchi M, et al. J Hum Genet. 2015 Oct;60(10):613-7. doi: 10.1038/jhg.2015.82. Epub 2015 Jul 16. J Hum Genet. 2015. PMID: 26178431 Free PMC article. Clinical Trial.
Information about the carrier frequencies of mutations that underlie autosomal recessive disorders is indispensable for accurate genetic counseling to predict the probability of patients' children's disease. ...GJB2 mutations are reported to be the most frequent cau …
Information about the carrier frequencies of mutations that underlie autosomal recessive disorders is indispensable for accura …