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Items: 1 to 50 of 206

1.

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.

Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD.

Genet Med. 2019 Apr;21(4):948-954. doi: 10.1038/s41436-018-0285-0. Epub 2018 Sep 24.

2.

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.

Hear Res. 2016 Sep;339:60-8. doi: 10.1016/j.heares.2016.06.008. Epub 2016 Jun 16.

PMID:
27318125
3.

HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.

Azaiez H, Decker AR, Booth KT, Simpson AC, Shearer AE, Huygen PL, Bu F, Hildebrand MS, Ranum PT, Shibata SB, Turner A, Zhang Y, Kimberling WJ, Cornell RA, Smith RJ.

PLoS Genet. 2015 Mar 27;11(3):e1005137. doi: 10.1371/journal.pgen.1005137. eCollection 2015 Mar.

4.

Expressivity of hearing loss in cases with Usher syndrome type IIA.

Sadeghi AM, Cohn ES, Kimberling WJ, Halvarsson G, Möller C.

Int J Audiol. 2013 Dec;52(12):832-7. doi: 10.3109/14992027.2013.839885. Epub 2013 Oct 28.

PMID:
24160897
5.

Advancing genetic testing for deafness with genomic technology.

Shearer AE, Black-Ziegelbein EA, Hildebrand MS, Eppsteiner RW, Ravi H, Joshi S, Guiffre AC, Sloan CM, Happe S, Howard SD, Novak B, Deluca AP, Taylor KR, Scheetz TE, Braun TA, Casavant TL, Kimberling WJ, Leproust EM, Smith RJ.

J Med Genet. 2013 Sep;50(9):627-34. doi: 10.1136/jmedgenet-2013-101749. Epub 2013 Jun 26.

6.

Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.

Jaijo T, Oshima A, Aller E, Carney C, Usami S, Millán JM, Kimberling WJ.

Mol Vis. 2012;18:1719-26. Epub 2012 Jun 23.

7.

Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I.

Zhou Q, Lenger C, Smith R, Kimberling WJ, Ye M, Lehmann O, MacDonald I.

Mol Vis. 2012;18:1379-83. Epub 2012 May 31.

8.

Retinal disease course in Usher syndrome 1B due to MYO7A mutations.

Jacobson SG, Cideciyan AV, Gibbs D, Sumaroka A, Roman AJ, Aleman TS, Schwartz SB, Olivares MB, Russell RC, Steinberg JD, Kenna MA, Kimberling WJ, Rehm HL, Williams DS.

Invest Ophthalmol Vis Sci. 2011 Oct 7;52(11):7924-36. doi: 10.1167/iovs.11-8313.

9.

Hearing loss disorders associated with renal disease.

Kimberling WJ, Borsa N, Smith RJH.

Adv Otorhinolaryngol. 2011;70:75-83. doi: 10.1159/000322478. Epub 2011 Feb 24. Review.

PMID:
21358188
10.

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.

11.

Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.

Hildebrand MS, Kahrizi K, Bromhead CJ, Shearer AE, Webster JA, Khodaei H, Abtahi R, Bazazzadegan N, Babanejad M, Nikzat N, Kimberling WJ, Stephan D, Huygen PL, Bahlo M, Smith RJ, Najmabadi H.

Ann Otol Rhinol Laryngol. 2010 Dec;119(12):830-5.

12.

Phenotypes in defined genotypes including siblings with Usher syndrome.

Malm E, Ponjavic V, Möller C, Kimberling WJ, Andréasson S.

Ophthalmic Genet. 2011 Jun;32(2):65-74. doi: 10.3109/13816810.2010.536064. Epub 2010 Dec 21.

PMID:
21174530
13.

A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.

Hildebrand MS, Gandolfo L, Shearer AE, Webster JA, Jensen M, Kimberling WJ, Stephan D, Huygen PL, Smith RJ, Bahlo M.

Laryngoscope. 2010 Dec;120(12):2489-93. doi: 10.1002/lary.21159.

14.

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, Cohn ES, Weleber RG, Stone EM, Smith RJ.

Genet Med. 2010 Aug;12(8):512-6. doi: 10.1097/GIM.0b013e3181e5afb8.

15.

Alteration of rod and cone function in children with Usher syndrome.

Malm E, Ponjavic V, Möller C, Kimberling WJ, Stone ES, Andréasson S.

Eur J Ophthalmol. 2011 Jan-Feb;21(1):30-8.

PMID:
20544672
16.

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.

Hildebrand MS, Thorne NP, Bromhead CJ, Kahrizi K, Webster JA, Fattahi Z, Bataejad M, Kimberling WJ, Stephan D, Najmabadi H, Bahlo M, Smith RJ.

Clin Genet. 2010 Jun;77(6):563-71. doi: 10.1111/j.1399-0004.2009.01344.x. Epub 2010 Feb 4.

17.

Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.

Grillet N, Schwander M, Hildebrand MS, Sczaniecka A, Kolatkar A, Velasco J, Webster JA, Kahrizi K, Najmabadi H, Kimberling WJ, Stephan D, Bahlo M, Wiltshire T, Tarantino LM, Kuhn P, Smith RJ, Müller U.

Am J Hum Genet. 2009 Sep;85(3):328-37. doi: 10.1016/j.ajhg.2009.07.017.

18.

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.

Shearer AE, Hildebrand MS, Webster JA, Kahrizi K, Meyer NC, Jalalvand K, Arzhanginy S, Kimberling WJ, Stephan D, Bahlo M, Smith RJ, Najmabadi H.

Laryngoscope. 2009 Apr;119(4):727-33. doi: 10.1002/lary.20116.

19.

A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.

Shearer AE, Hildebrand MS, Bromhead CJ, Kahrizi K, Webster JA, Azadeh B, Kimberling WJ, Anousheh A, Nazeri A, Stephan D, Najmabadi H, Smith RJ, Bahlo M.

Am J Med Genet A. 2009 Mar;149A(3):555-8. doi: 10.1002/ajmg.a.32670. No abstract available.

20.

Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.

Jacobson SG, Aleman TS, Sumaroka A, Cideciyan AV, Roman AJ, Windsor EA, Schwartz SB, Rehm HL, Kimberling WJ.

Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1886-94. doi: 10.1167/iovs.08-3122. Epub 2008 Dec 13.

PMID:
19074810
21.

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.

Hmani-Aifa M, Benzina Z, Zulfiqar F, Dhouib H, Shahzadi A, Ghorbel A, Rebaï A, Söderkvist P, Riazuddin S, Kimberling WJ, Ayadi H.

Eur J Hum Genet. 2009 Apr;17(4):474-82. doi: 10.1038/ejhg.2008.167. Epub 2008 Oct 15.

22.

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

Hildebrand MS, Sorensen JL, Jensen M, Kimberling WJ, Smith RJ.

Am J Med Genet A. 2008 Sep 1;146A(17):2258-65. doi: 10.1002/ajmg.a.32449.

23.

Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.

Reed B, McFann K, Kimberling WJ, Pei Y, Gabow PA, Christopher K, Petersen E, Kelleher C, Fain PR, Johnson A, Schrier RW.

Am J Kidney Dis. 2008 Dec;52(6):1042-50. doi: 10.1053/j.ajkd.2008.05.015. Epub 2008 Jul 21.

24.

Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.

Tamayo ML, Lopez G, Gelvez N, Medina D, Kimberling WJ, Rodríguez V, Tamayo GE, Bernal JE.

Genet Couns. 2008;19(1):15-27.

PMID:
18564497
25.

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ, Kimberling WJ, Steel KP, Williams DS.

Hum Mol Genet. 2008 Aug 1;17(15):2405-15. doi: 10.1093/hmg/ddn140. Epub 2008 May 7.

26.

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S, Moller C, Kimberling WJ.

Hum Mutat. 2008 Jun;29(6):E37-46. doi: 10.1002/humu.20761.

27.

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.

Kochhar A, Orten DJ, Sorensen JL, Fischer SM, Cremers CW, Kimberling WJ, Smith RJ.

Hum Mutat. 2008 Apr;29(4):565. doi: 10.1002/humu.20714.

PMID:
18330911
28.

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.

Herrera W, Aleman TS, Cideciyan AV, Roman AJ, Banin E, Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EA, Schwartz SB, Stone EM, Liu XZ, Kimberling WJ, Jacobson SG.

Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2651-60. doi: 10.1167/iovs.07-1505. Epub 2008 Feb 15.

PMID:
18281613
29.

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

Orten DJ, Fischer SM, Sorensen JL, Radhakrishna U, Cremers CW, Marres HA, Van Camp G, Welch KO, Smith RJ, Kimberling WJ.

Hum Mutat. 2008 Apr;29(4):537-44. doi: 10.1002/humu.20691.

PMID:
18220287
30.

Is hearing loss due to mutations in the Connexin 26 gene progressive?

Gopalarao D, Kimberling WJ, Jesteadt W, Kelley PM, Beauchaine KL, Cohn ES.

Int J Audiol. 2008 Jan;47(1):11-20. doi: 10.1080/14992020701602087.

PMID:
18196482
31.

Genotype-phenotype correlations for SLC26A4-related deafness.

Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, Kimberling WJ, Smith RJ.

Hum Genet. 2007 Dec;122(5):451-7. Epub 2007 Aug 10.

PMID:
17690912
32.

New approaches to the treatment of dense deposit disease.

Smith RJ, Alexander J, Barlow PN, Botto M, Cassavant TL, Cook HT, de Córdoba SR, Hageman GS, Jokiranta TS, Kimberling WJ, Lambris JD, Lanning LD, Levidiotis V, Licht C, Lutz HU, Meri S, Pickering MC, Quigg RJ, Rops AL, Salant DJ, Sethi S, Thurman JM, Tully HF, Tully SP, van der Vlag J, Walker PD, Würzner R, Zipfel PF; Dense Deposit Disease Focus Group.

J Am Soc Nephrol. 2007 Sep;18(9):2447-56. Epub 2007 Aug 5. Review.

33.

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F.

Am J Hum Genet. 2007 Apr;80(4):800-4. Epub 2007 Feb 22.

34.

Branchio-oto-renal syndrome.

Kochhar A, Fischer SM, Kimberling WJ, Smith RJ.

Am J Med Genet A. 2007 Jul 15;143A(14):1671-8. Review.

PMID:
17238186
35.

Development of a genotyping microarray for Usher syndrome.

Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H.

J Med Genet. 2007 Feb;44(2):153-60. Epub 2006 Sep 8.

36.

Longterm visual prognosis in Usher syndrome types 1 and 2.

Sadeghi AM, Eriksson K, Kimberling WJ, Sjöström A, Möller C.

Acta Ophthalmol Scand. 2006 Aug;84(4):537-44.

37.

The Coxsackievirus and Adenovirus Receptor: a new adhesion protein in cochlear development.

Excoffon KJ, Avenarius MR, Hansen MR, Kimberling WJ, Najmabadi H, Smith RJ, Zabner J.

Hear Res. 2006 May;215(1-2):1-9. Epub 2006 May 6.

PMID:
16678988
38.

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.

Varga R, Avenarius MR, Kelley PM, Keats BJ, Berlin CI, Hood LJ, Morlet TG, Brashears SM, Starr A, Cohn ES, Smith RJ, Kimberling WJ.

J Med Genet. 2006 Jul;43(7):576-81. Epub 2005 Dec 21.

40.

Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.

Sadeghi M, Cohn ES, Kimberling WJ, Tranebjaerg L, Möller C.

Int J Audiol. 2005 May;44(5):307-16.

PMID:
16028794
41.

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.

Schwartz SB, Aleman TS, Cideciyan AV, Windsor EA, Sumaroka A, Roman AJ, Rane T, Smilko EE, Bennett J, Stone EM, Kimberling WJ, Liu XZ, Jacobson SG.

Invest Ophthalmol Vis Sci. 2005 Feb;46(2):734-43.

PMID:
15671307
42.
43.

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

Pennings RJ, Topsakal V, Astuto L, de Brouwer AP, Wagenaar M, Huygen PL, Kimberling WJ, Deutman AF, Kremer H, Cremers CW.

Otol Neurotol. 2004 Sep;25(5):699-706.

PMID:
15353998
44.

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

Pennings RJ, Te Brinke H, Weston MD, Claassen A, Orten DJ, Weekamp H, Van Aarem A, Huygen PL, Deutman AF, Hoefsloot LH, Cremers FP, Cremers CW, Kimberling WJ, Kremer H.

Hum Mutat. 2004 Aug;24(2):185.

PMID:
15241801
45.

Audiological findings in Usher syndrome types IIa and II (non-IIa).

Sadeghi M, Cohn ES, Kelly WJ, Kimberling WJ, Tranebjoerg L, Möller C.

Int J Audiol. 2004 Mar;43(3):136-43.

PMID:
15198377
46.

Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

Pennings RJ, Huygen PL, Orten DJ, Wagenaar M, van Aarem A, Kremer H, Kimberling WJ, Cremers CW, Deutman AF.

Acta Ophthalmol Scand. 2004 Apr;82(2):131-9.

47.

Kinetics of visual field loss in Usher syndrome Type II.

Iannaccone A, Kritchevsky SB, Ciccarelli ML, Tedesco SA, Macaluso C, Kimberling WJ, Somes GW.

Invest Ophthalmol Vis Sci. 2004 Mar;45(3):784-92.

PMID:
14985291
48.

Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.

Weston MD, Luijendijk MW, Humphrey KD, Möller C, Kimberling WJ.

Am J Hum Genet. 2004 Feb;74(2):357-66. Epub 2004 Jan 20. Erratum in: Am J Hum Genet. 2004 May;74(5):1080.

49.

Transcription, translation, and transitions.

Kimberling WJ.

Audiol Neurootol. 2004 Jan-Feb;9(1):1. No abstract available.

50.

A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure.

Bhattacharya G, Kalluri R, Orten DJ, Kimberling WJ, Cosgrove D.

J Cell Sci. 2004 Jan 15;117(Pt 2):233-42.

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