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Year Number of Results
1992 1
1998 1
2001 1
2002 2
2003 1
2004 1
2008 1
2009 1
2010 2
2011 3
2013 1
2014 1
2015 1
2018 1
2019 1
2020 1
2023 1
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17 results

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Page 1
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....Although we demonstrate that CLIC5 is ex …
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.
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) …
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 …
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. ...Phenotypic expression varies considerably, ev …
The Alstrom syndrome is a rare, autosomal recessive disorder characterized by retinal degeneration, obesity, progressive hearing …
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
Of those, 80 subjects complained of subjective audiological disturbances and underwent oto-rhino-laryngological and audiovestibular evaluation. Those patients with progressive hearing impairment were selected and studied carefully. RESULTS: A PSNHL was obs …
Of those, 80 subjects complained of subjective audiological disturbances and underwent oto-rhino-laryngological and audiovestibular evaluati …
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
BACKGROUND: Norrie disease is a rare X-linked recessive disorder in affected males. The typical features are congenital blindness, progressive hearing impairment, and, in some cases, some degree of mental retardation, microphthalmia, microcornea, growth failu …
BACKGROUND: Norrie disease is a rare X-linked recessive disorder in affected males. The typical features are congenital blindness, progre …
Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation.
Mirghomizadeh F, Bardtke B, Devoto M, Pfister M, Oeken J, König E, Vitale E, Riccio A, De Rienzo A, Zenner HP, Blin N. Mirghomizadeh F, et al. Eur J Hum Genet. 2002 Feb;10(2):95-9. doi: 10.1038/sj.ejhg.5200769. Eur J Hum Genet. 2002. PMID: 11938438
Until now, over 30 loci have been identified by linkage analysis of affected families that segregate non-syndromic and dominantly inherited forms of hearing impairment (DFNA). A German family with a non-syndromic progressive hearing impairment transmitted in …
Until now, over 30 loci have been identified by linkage analysis of affected families that segregate non-syndromic and dominantly inherited …
Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations.
Pennings RJ, Huygen PL, van den Ouweland JM, Cryns K, Dikkeschei LD, Van Camp G, Cremers CW. Pennings RJ, et al. Audiol Neurootol. 2004 Jan-Feb;9(1):51-62. doi: 10.1159/000074187. Audiol Neurootol. 2004. PMID: 14676474
Patients with Wolfram syndrome showed a downsloping audiogram and progressive hearing impairment. None of the carriers had sensorineural hearing loss. ...Female patients showed hearing impairment progressing by 1.5-2.0 dB HL per year for the low frequencies a …
Patients with Wolfram syndrome showed a downsloping audiogram and progressive hearing impairment. None of the carriers …
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.
Schraders M, Haas SA, Weegerink NJ, Oostrik J, Hu H, Hoefsloot LH, Kannan S, Huygen PL, Pennings RJ, Admiraal RJ, Kalscheuer VM, Kunst HP, Kremer H. Schraders M, et al. Am J Hum Genet. 2011 May 13;88(5):628-34. doi: 10.1016/j.ajhg.2011.04.012. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549342 Free PMC article.
In a Dutch family with an X-linked postlingual progressive hearing impairment, a critical linkage interval was determined to span a region of 12.9 Mb flanked by the markers DXS7108 and DXS7110. ...Although we show that SMPX is expressed in many different orga …
In a Dutch family with an X-linked postlingual progressive hearing impairment, a critical linkage interval was determin …
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
We report a very rare case of hearing improvement after removal of the intracranial part of a jugular foramen schwannoma (JFS) presenting with chronic and severe progressive sensorineural hearing loss (SNHL). The patient presented with progressive hearing impairm …
We report a very rare case of hearing improvement after removal of the intracranial part of a jugular foramen schwannoma (JFS) presenting wi …
17 results