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

Year Number of Results
1965 1
1967 3
1969 2
1970 1
1971 2
1972 1
1973 1
1975 3
1977 1
1979 2
1980 1
1985 2
1989 1
1990 2
1991 4
1992 3
1993 3
1994 5
1995 4
1996 1
1997 4
1998 6
1999 10
2000 9
2001 7
2002 5
2003 5
2004 4
2005 5
2006 8
2007 6
2008 6
2009 7
2010 4
2011 14
2012 10
2013 4
2014 5
2015 5
2016 5
2017 8
2018 6
2019 13
2020 9
2021 14
2022 14
2023 10
2024 2

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Search Results

226 results

Results by year

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Page 1
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE. Kashtan CE. Am J Kidney Dis. 2021 Feb;77(2):272-279. doi: 10.1053/j.ajkd.2020.03.026. Epub 2020 Jul 22. Am J Kidney Dis. 2021. PMID: 32712016 Review.
Individuals with Alport syndrome have a significant lifetime risk for kidney failure, as well as sensorineural deafness and ocular abnormalities. The availability of effective intervention for Alport syndrome-related kidney disease makes early diagnosis crucial, but this c …
Individuals with Alport syndrome have a significant lifetime risk for kidney failure, as well as sensorineural deafness and ocular ab …
Advances in gene therapy hold promise for treating hereditary hearing loss.
Jiang L, Wang D, He Y, Shu Y. Jiang L, et al. Mol Ther. 2023 Apr 5;31(4):934-950. doi: 10.1016/j.ymthe.2023.02.001. Epub 2023 Feb 8. Mol Ther. 2023. PMID: 36755494 Free PMC article. Review.
Gene therapy focuses on genetic modification to produce therapeutic effects or treat diseases by repairing or reconstructing genetic material, thus being expected to be the most promising therapeutic strategy for genetic disorders. Due to the growing attention to hearing i …
Gene therapy focuses on genetic modification to produce therapeutic effects or treat diseases by repairing or reconstructing genetic materia …
Dominant Stickler Syndrome.
Soh Z, Richards AJ, McNinch A, Alexander P, Martin H, Snead MP. Soh Z, et al. Genes (Basel). 2022 Jun 18;13(6):1089. doi: 10.3390/genes13061089. Genes (Basel). 2022. PMID: 35741851 Free PMC article. Review.
The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal detachment, deafness, cleft palate, and premature arthritis. This review article focuses on the molecular genetics of the autosomal dominan …
The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal detach …
[Non-cirrhotic ascites: pathophysiology, diagnosis and etiology].
Carrier P, Jacques J, Debette-Gratien M, Legros R, Sarabi M, Vidal E, Sautereau D, Bezanahary H, Ly KH, Loustaud-Ratti V. Carrier P, et al. Rev Med Interne. 2014 Jun;35(6):365-71. doi: 10.1016/j.revmed.2013.12.001. Epub 2014 Jan 6. Rev Med Interne. 2014. PMID: 24406314 Free article. Review. French.
Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.
de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM. de Muijnck C, et al. Surv Ophthalmol. 2023 Jul-Aug;68(4):641-654. doi: 10.1016/j.survophthal.2023.01.012. Epub 2023 Feb 9. Surv Ophthalmol. 2023. PMID: 36764396 Free article. Review.
The most common phenotype consisted of the combination of optic atrophy (87%) and hearing impairment (94%). Diabetes mellitus was seen in 44% of the patients. ...Patients with missense mutations in WFS1 had a lower number of clinical manifestations, less chance of developi …
The most common phenotype consisted of the combination of optic atrophy (87%) and hearing impairment (94%). Diabetes mellitus was see …
The Epidemiology of Deafness.
Sheffield AM, Smith RJH. Sheffield AM, et al. Cold Spring Harb Perspect Med. 2019 Sep 3;9(9):a033258. doi: 10.1101/cshperspect.a033258. Cold Spring Harb Perspect Med. 2019. PMID: 30249598 Free PMC article. Review.
This review presents epidemiological data on hearing loss. We discuss hereditary hearing loss, complex hearing loss with genetic and environmental factors, and hearing loss that is more clearly related to environment. …
This review presents epidemiological data on hearing loss. We discuss hereditary hearing loss, complex …
[Hereditary hearing loss].
Tropitzsch A, Schade-Mann T, Gamerdinger P. Tropitzsch A, et al. HNO. 2023 Feb;71(2):131-142. doi: 10.1007/s00106-022-01254-x. Epub 2022 Dec 16. HNO. 2023. PMID: 36526931 Review. German.
Understanding the genetic basis of hearing loss is becoming increasingly relevant, as 50-70% of congenital hearing loss is hereditary and postlingual hearing loss is also often of hereditary origin. To date, more than 220 ge …
Understanding the genetic basis of hearing loss is becoming increasingly relevant, as 50-70% of congenital hearing l …
Hereditary hearing loss; about the known and the unknown.
Kremer H. Kremer H. Hear Res. 2019 May;376:58-68. doi: 10.1016/j.heares.2019.01.003. Epub 2019 Jan 10. Hear Res. 2019. PMID: 30665849 Review.
Hereditary hearing loss is both clinically and genetically very heterogeneous. Despite the large number of genes that have been associated with the condition, many cases remain unexplained. Novel gene associations with hearing loss are to be exp …
Hereditary hearing loss is both clinically and genetically very heterogeneous. Despite the large number of genes that h …
Genetic hearing impairment.
Ječmenica J, Bajec-Opančina A, Ječmenica D. Ječmenica J, et al. Childs Nerv Syst. 2015 Apr;31(4):515-9. doi: 10.1007/s00381-015-2628-3. Epub 2015 Feb 17. Childs Nerv Syst. 2015. PMID: 25686889 Review.
INTRODUCTION: Three out of 1000 newborns are affected by a hearing loss, one of these being profound congenital deafness, whereas in the population of children treated in the intensive care unit, the incidence is 1:50. The purpose of this paper is to show in …
INTRODUCTION: Three out of 1000 newborns are affected by a hearing loss, one of these being profound congenital deafness …
Connexin hemichannels and cochlear function.
Verselis VK. Verselis VK. Neurosci Lett. 2019 Mar 16;695:40-45. doi: 10.1016/j.neulet.2017.09.020. Epub 2017 Sep 14. Neurosci Lett. 2019. PMID: 28917982 Free PMC article. Review.
Mutations in connexins expressed in the cochlear epithelium, Cx26 and Cx30, cause sensorineural deafness and in the case of Cx26, is one of the most common causes of non-syndromic, hereditary deafness. ...The potential roles connexin hemichannels can play are …
Mutations in connexins expressed in the cochlear epithelium, Cx26 and Cx30, cause sensorineural deafness and in the case of Cx26, is …
226 results