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Year Number of Results
1992 1
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2010 3
2011 3
2013 2
2014 2
2015 1
2016 1
2017 1
2018 3
2019 1
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Page 1
Linking Cerebrovascular Dysfunction to Age-Related Hearing Loss and Alzheimer's Disease-Are Systemic Approaches for Diagnosis and Therapy Required?
Förster CY, Shityakov S, Scheper V, Lenarz T. Förster CY, et al. Biomolecules. 2022 Nov 19;12(11):1717. doi: 10.3390/biom12111717. Biomolecules. 2022. PMID: 36421731 Free PMC article. Review.
We present compelling evidence that ARHL might well be seen as an important risk factor in AD development: progressive hearing impairment, leading to social isolation, and its comorbidities, such as frailty, falls, and late-onset depression, link ARHL with co …
We present compelling evidence that ARHL might well be seen as an important risk factor in AD development: progressive hearing
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.
Seco CZ, Oonk AM, Domínguez-Ruiz M, Draaisma JM, Gandía M, Oostrik J, Neveling K, Kunst HP, Hoefsloot LH, del Castillo I, Pennings RJ, Kremer H, Admiraal RJ, Schraders M. Seco CZ, et al. Eur J Hum Genet. 2015 Feb;23(2):189-94. doi: 10.1038/ejhg.2014.83. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781754 Free PMC article.
The orthologous mouse gene is mutated in the jitterbug mutant that exhibits progressive hearing impairment and vestibular dysfunction. Mutation analysis of CLIC5 revealed a homozygous nonsense mutation c.96T>A (p....In conclusion, our results show that CLI …
The orthologous mouse gene is mutated in the jitterbug mutant that exhibits progressive hearing impairment and vestibul …
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
Smits JJ, Oostrik J, Beynon AJ, Kant SG, de Koning Gans PAM, Rotteveel LJC, Klein Wassink-Ruiter JS, Free RH, Maas SM, van de Kamp J, Merkus P; DOOFNL Consortium; Koole W, Feenstra I, Admiraal RJC, Lanting CP, Schraders M, Yntema HG, Pennings RJE, Kremer H. Smits JJ, et al. Hum Genet. 2019 Jan;138(1):61-72. doi: 10.1007/s00439-018-1965-1. Epub 2018 Dec 8. Hum Genet. 2019. PMID: 30535804 Free PMC article.
Newborn hearing concurrent genetic screening for hearing impairment-a clinical practice in 58,397 neonates in Tianjin, China.
Zhang J, Wang P, Han B, Ding Y, Pan L, Zou J, Liu H, Pang X, Liu E, Wang H, Liu H, Zhang X, Cheng X, Feng D, Li Q, Wang D, Zong L, Yi Y, Tian N, Mu F, Tian G, Chen Y, Liu G, Zhang F, Yi X, Yang L, Wang Q. Zhang J, et al. Int J Pediatr Otorhinolaryngol. 2013 Dec;77(12):1929-35. doi: 10.1016/j.ijporl.2013.08.038. Epub 2013 Sep 8. Int J Pediatr Otorhinolaryngol. 2013. PMID: 24100002
OBJECTIVE: Newborn hearing screening (NHS) is used worldwide due to its feasibility and cost-efficiency. However, neonates with late-onset and progressive hearing impairment will be missed by NHS. Genetic factors account for an estimated 60% of congenital pro …
OBJECTIVE: Newborn hearing screening (NHS) is used worldwide due to its feasibility and cost-efficiency. However, neonates with late-onset a …
Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China.
Hao Z, Fu D, Ming Y, Yang J, Huang Q, Lin W, Zhang H, Zhang B, Zhou A, Hu X, Yao C, Dong Y, Ring HZ, Ring BZ. Hao Z, et al. PLoS One. 2018 Apr 10;13(4):e0195740. doi: 10.1371/journal.pone.0195740. eCollection 2018. PLoS One. 2018. PMID: 29634755 Free PMC article.
Newborn hearing genetic screening can complement Universal Neonatal Hearing Screening for the diagnosis of congenital hearing loss as well as identifying children at risk for late-onset and progressive hearing impairment. The aim of this joint academic and Mi …
Newborn hearing genetic screening can complement Universal Neonatal Hearing Screening for the diagnosis of congenital hearing loss as well a …
Audiometric characteristics of a Dutch family with Muckle-Wells syndrome.
Weegerink NJ, Schraders M, Leijendeckers J, Slieker K, Huygen PL, Hoefsloot L, Oostrik J, Pennings RJ, Simon A, Snik A, Kremer H, Kunst HP. Weegerink NJ, et al. Hear Res. 2011 Dec;282(1-2):243-51. doi: 10.1016/j.heares.2011.07.006. Epub 2011 Jul 23. Hear Res. 2011. PMID: 21810457
Six clinically affected family members participated in this study and all were carriers of a p.Tyr859His mutation in the NLPR3 gene. Most affected family members reported bilateral, slowly progressive hearing impairment since childhood. Hearing impairment sta …
Six clinically affected family members participated in this study and all were carriers of a p.Tyr859His mutation in the NLPR3 gene. Most af …
Studies on the very large G protein-coupled receptor: from initial discovery to determining its role in sensorineural deafness in higher animals.
McMillan DR, White PC. McMillan DR, et al. Adv Exp Med Biol. 2010;706:76-86. doi: 10.1007/978-1-4419-7913-1_6. Adv Exp Med Biol. 2010. PMID: 21618827 Review.
The mutant mice present with sensitivity to audiogenic seizures but also have cochlear defects and significant, progressive hearing impairment. Although its ligand is currently unknown, VLGR1 is one of the few adhesion-GPCR family members in which mutations h …
The mutant mice present with sensitivity to audiogenic seizures but also have cochlear defects and significant, progressive hearin
The Alström syndrome: is it a rare or unknown disease?
Maffei P, Munno V, Marshall JD, Scandellari C, Sicolo N. Maffei P, et al. Ann Ital Med Int. 2002 Oct-Dec;17(4):221-8. Ann Ital Med Int. 2002. PMID: 12532560 Review.
The Alstrom syndrome is a rare, autosomal recessive disorder characterized by retinal degeneration, obesity, progressive hearing impairment, non-insulin-dependent diabetes mellitus and kidney and heart failure. ...
The Alstrom syndrome is a rare, autosomal recessive disorder characterized by retinal degeneration, obesity, progressive hearing
25 results