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15 results

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Page 1
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.
Whole exome sequencing in hearing impaired index cases of Dutch and Polish origins revealed five novel heterozygous (predicted to be) loss-of-function variants of ATP2B2. Two variants, c.1963G>T (p.Glu655*) and c.955delG (p.Ala319fs), occurred de novo. ...
Whole exome sequencing in hearing impaired index cases of Dutch and Polish origins revealed five novel heterozygous (predicted to be) …
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
CONCLUSION: Accurate, comprehensive hearing loss associated genetic screening can facilitate genetic counseling and provides valuable prognostic information to affected infants. This united screening mode of this study was a promising clinical practice....
CONCLUSION: Accurate, comprehensive hearing loss associated genetic screening can facilitate genetic counseling and provides valuable pro …
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
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.
Hartel BP, Löfgren M, Huygen PL, Guchelaar I, Lo-A-Njoe Kort N, Sadeghi AM, van Wijk E, Tranebjærg L, Kremer H, Kimberling WJ, Cremers CW, Möller C, Pennings RJ. Hartel BP, et al. Hear Res. 2016 Sep;339:60-8. doi: 10.1016/j.heares.2016.06.008. Epub 2016 Jun 16. Hear Res. 2016. PMID: 27318125
CONCLUSIONS: The results have direct implications for patient counselling in terms of prognosis of hearing and may serve as baseline measures for future (genetic) therapeutic interventions....
CONCLUSIONS: The results have direct implications for patient counselling in terms of prognosis of hearing and may serve as baseline …
Relapsing autoimmune inner ear disease with significant response to methotrexate and azathioprine combination therapy: A case report and mini literature review.
Huang KH, Lin HC, Lin CD, Wu PC. Huang KH, et al. Medicine (Baltimore). 2023 Jun 9;102(23):e33889. doi: 10.1097/MD.0000000000033889. Medicine (Baltimore). 2023. PMID: 37335659 Free PMC article. Review.
DIAGNOSES: Autoimmune inner ear disease was considered due to evidence of autoimmunity combined with a clinical course of bilateral and recurrent sensorineural hearing loss and a partial response to corticosteroid therapy. ...
DIAGNOSES: Autoimmune inner ear disease was considered due to evidence of autoimmunity combined with a clinical course of bilateral a …
Severe progressive sensorineural hearing loss improved after removal of large jugular foramen schwannoma.
Oishi N, Kohno N, Shiokawa Y. Oishi N, et al. Auris Nasus Larynx. 2011 Jun;38(3):398-401. doi: 10.1016/j.anl.2010.09.005. Epub 2010 Oct 23. Auris Nasus Larynx. 2011. PMID: 20971588
This case demonstrates that hearing improvement can be achieved after surgery for JFS presenting with severe and chronic progressive SNHL, and that good DPOAE responses and the presence of ABR I waves may be predictors of postoperative hearing recovery in JFS....
This case demonstrates that hearing improvement can be achieved after surgery for JFS presenting with severe and chronic progressive SNHL, a …
Progressive sensorineural hearing impairment in systemic vasculitides.
Berrettini S, Ferri C, Ravecca F, LaCivita L, Bruschini L, Riente L, Mosca M, Sellari-Franceschini S. Berrettini S, et al. Semin Arthritis Rheum. 1998 Apr;27(5):301-18. doi: 10.1016/s0049-0172(98)80051-6. Semin Arthritis Rheum. 1998. PMID: 9572712
Its clinical evolution is variable, but timely clinical assessment and treatment can positively affect prognosis....
Its clinical evolution is variable, but timely clinical assessment and treatment can positively affect prognosis....
A novel c.287G>T NDP missense mutation in a Chinese family with Norrie disease.
Lin M, Lu Y, Sui Y, Ni X, Li H, Chen X, Zhao N, Jiang M. Lin M, et al. Ophthalmic Genet. 2020 Aug;41(4):338-340. doi: 10.1080/13816810.2020.1759106. Epub 2020 May 12. Ophthalmic Genet. 2020. PMID: 32393149
RE: sults: The c.287 G > T mutation of NDP was identified by Sanger sequencing and resulted in p.Cys96Phe. The pathogenicity prediction was performed by MutationTaster, Polyphen-2, SIFT, and PROVEAN, all of which suggested that the mutation is disease-causing and may be …
RE: sults: The c.287 G > T mutation of NDP was identified by Sanger sequencing and resulted in p.Cys96Phe. The pathogenicity predictio …
15 results