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Items: 1 to 20 of 125

1.

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.

Schraders M, Oostrik J, Huygen PL, Strom TM, van Wijk E, Kunst HP, Hoefsloot LH, Cremers CW, Admiraal RJ, Kremer H.

Am J Hum Genet. 2010 Apr 9;86(4):604-10. doi: 10.1016/j.ajhg.2010.02.015. Epub 2010 Mar 25.

2.

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.

Shahin H, Rahil M, Abu Rayan A, Avraham KB, King MC, Kanaan M, Walsh T.

J Med Genet. 2010 Sep;47(9):643-5. doi: 10.1136/jmg.2009.075697. Epub 2010 May 14.

PMID:
20472657
3.

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

Schraders M, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, Kremer H.

Am J Hum Genet. 2010 Feb 12;86(2):138-47. doi: 10.1016/j.ajhg.2009.12.017. Epub 2010 Feb 4.

4.

Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss.

Sakuma N, Moteki H, Azaiez H, Booth KT, Takahashi M, Arai Y, Shearer AE, Sloan CM, Nishio SY, Kolbe DL, Iwasaki S, Oridate N, Smith RJ, Usami S.

Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:184S-92S. doi: 10.1177/0003489415575041. Epub 2015 Mar 18.

5.

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.

Eur J Hum Genet. 2015 Feb;23(2):189-94. doi: 10.1038/ejhg.2014.83. Epub 2014 Apr 30.

6.

Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment.

Sang Q, Mei H, Kuermanhan A, Feng R, Guo L, Qu R, Xu Y, Li H, Jin L, He L, Wang L.

Mol Genet Genomics. 2015 Jun;290(3):1135-9. doi: 10.1007/s00438-014-0979-1. Epub 2015 Jan 4.

PMID:
25557914
7.

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.

Gao X, Su Y, Chen YL, Han MY, Yuan YY, Xu JC, Xin F, Zhang MG, Huang SS, Wang GJ, Kang DY, Guan LP, Zhang JG, Dai P.

PLoS One. 2015 Apr 28;10(4):e0124757. doi: 10.1371/journal.pone.0124757. eCollection 2015.

8.

Hair bundle defects and loss of function in the vestibular end organs of mice lacking the receptor-like inositol lipid phosphatase PTPRQ.

Goodyear RJ, Jones SM, Sharifi L, Forge A, Richardson GP.

J Neurosci. 2012 Feb 22;32(8):2762-72. doi: 10.1523/JNEUROSCI.3635-11.2012.

9.

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Zazo Seco C, Oonk AM, Kunst HP, Domínguez-Ruiz M, García-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H.

Am J Hum Genet. 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012.

10.

A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.

Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjaerg L.

Am J Med Genet A. 2008 Apr 15;146A(8):1017-25. doi: 10.1002/ajmg.a.32174.

PMID:
18348273
11.

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.

Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ.

Hum Mutat. 2007 Jun;28(6):571-7.

PMID:
17301963
12.

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C.

Am J Hum Genet. 2011 Feb 11;88(2):127-37. doi: 10.1016/j.ajhg.2010.12.011. Epub 2011 Jan 20.

13.

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

Audo I, Bujakowska K, Mohand-Saïd S, Tronche S, Lancelot ME, Antonio A, Germain A, Lonjou C, Carpentier W, Sahel JA, Bhattacharya S, Zeitz C.

Mol Vis. 2011;17:1598-606. Epub 2011 Jun 15.

14.

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.

Ahmed ZM, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Husnain T, Rehman AU, Bonneux S, Ansar M, Ahmad W, Leal SM, Gladyshev VN, Belyantseva IA, Van Camp G, Riazuddin S, Friedman TB, Riazuddin S.

Am J Hum Genet. 2011 Jan 7;88(1):19-29. doi: 10.1016/j.ajhg.2010.11.010. Epub 2010 Dec 23.

15.

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.

Boulouiz R, Li Y, Soualhine H, Abidi O, Chafik A, Nürnberg G, Becker C, Nürnberg P, Kubisch C, Wollnik B, Barakat A.

Am J Med Genet A. 2008 Dec 1;146A(23):3086-9. doi: 10.1002/ajmg.a.32525. No abstract available.

PMID:
18973245
16.

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.

Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CW, Brunner HG, Cremers FP, Karaguzel A, Kremer H.

Hum Mutat. 2007 Jul;28(7):718-23.

PMID:
17373699
17.

Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.

Usami S, Takahashi K, Yuge I, Ohtsuka A, Namba A, Abe S, Fransen E, Patthy L, Otting G, Van Camp G.

Eur J Hum Genet. 2003 Oct;11(10):744-8.

18.

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H.

Am J Hum Genet. 2008 Jan;82(1):125-38. doi: 10.1016/j.ajhg.2007.09.008.

19.

Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.

de Heer AM, Collin RW, Huygen PL, Schraders M, Oostrik J, Rouwette M, Kunst HP, Kremer H, Cremers CW.

Audiol Neurootol. 2011;16(2):93-105. doi: 10.1159/000313282. Epub 2010 Jun 26.

PMID:
21252500
20.

Disruption of PTPRO causes childhood-onset nephrotic syndrome.

Ozaltin F, Ibsirlioglu T, Taskiran EZ, Baydar DE, Kaymaz F, Buyukcelik M, Kilic BD, Balat A, Iatropoulos P, Asan E, Akarsu NA, Schaefer F, Yilmaz E, Bakkaloglu A; PodoNet Consortium..

Am J Hum Genet. 2011 Jul 15;89(1):139-47. doi: 10.1016/j.ajhg.2011.05.026. Epub 2011 Jun 30.

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