-
1
-
-
0014561109
-
Usher's syndrome-deafness and progressive blindness. Clinical cases, prevention, theory and literature survey
-
Vernon, M. Usher's syndrome-deafness and progressive blindness. Clinical cases, prevention, theory and literature survey. J. Chronic. Dis. 22, 133-153 (1969).
-
(1969)
J. Chronic. Dis.
, vol.22
, pp. 133-153
-
-
Vernon, M.1
-
2
-
-
0020619770
-
Usher syndrome: Definition and estimate of prevalence from two high-riskpopulations
-
Boughman, J. A., Vernon, M. & Shave, K. A. Usher syndrome: definition and estimate of prevalence from two high-riskpopulations. J. Chronic. Dis. 36, 595-603 (1983).
-
(1983)
J. Chronic. Dis.
, vol.36
, pp. 595-603
-
-
Boughman, J.A.1
Vernon, M.2
Shave, K.A.3
-
3
-
-
7944229728
-
Retinitis pigmentosa combined with congenital deafness with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical andgenetico-statistical study
-
Hallgren, B. Retinitis pigmentosa combined with congenital deafness with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: a clinical andgenetico-statistical study. Acta Psychiatr. Neurol. Scand. Suppl. 138, 1-101 (1959).
-
(1959)
Acta Psychiatr. Neurol. Scand. Suppl.
, vol.138
, pp. 1-101
-
-
Hallgren, B.1
-
4
-
-
0028262286
-
Genetic mapping of the gene for Usher syndrome: Linkage analysis in a large Samaritan kindred
-
Bonne-Tamir, B., Korostishevsky, M., Kalinsky, H., Seroussi, E., Beker, R., Weiss, S. et al. Genetic mapping of the gene for Usher syndrome: linkage analysis in a large Samaritan kindred. Genomics 20, 36-42 (1994).
-
(1994)
Genomics
, vol.20
, pp. 36-42
-
-
Bonne-Tamir, B.1
Korostishevsky, M.2
Kalinsky, H.3
Seroussi, E.4
Beker, R.5
Weiss, S.6
-
5
-
-
19244362118
-
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients
-
Weston, M. D., Kelley, P. M., Overbeck, L. D., Wagenaar, M., Orten, D. J., Hasson, T. et al. Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Am. J. Hum. Genet. 59, 1074-1083 (1996).
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 1074-1083
-
-
Weston, M.D.1
Kelley, P.M.2
Overbeck, L.D.3
Wagenaar, M.4
Orten, D.J.5
Hasson, T.6
-
6
-
-
0030869710
-
Mutation profile of all49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher1B families from diverse origins
-
Adato, A., Weil, D., Kalinski, H., Pel-Or, Y., Ayadi, H., Petit, C. et al. Mutation profile of all49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher1B families from diverse origins. Am. J. Hum. Genet. 61, 813-821 (1997).
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 813-821
-
-
Adato, A.1
Weil, D.2
Kalinski, H.3
Pel-Or, Y.4
Ayadi, H.5
Petit, C.6
-
7
-
-
29644447271
-
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2
-
Reiners, J., van Wijk, E., Märker, T., Zimmermann, U., Jürgens, K., te Brinke, H. et al. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum. Mol. Genet. 14, 3933-3943 (2005).
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 3933-3943
-
-
Reiners, J.1
Van Wijk, E.2
Märker, T.3
Zimmermann, U.4
Jürgens, K.5
Te Brinke, H.6
-
8
-
-
33646856845
-
Molecular basis of human Usher syndrome: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
-
Reiners, J., Nagel-Wolfrum, K., Jurgens, K., Marker, T. & Wolfrum, U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp. Eye Res. 83, 97-119 (2006).
-
(2006)
Exp. Eye Res.
, vol.83
, pp. 97-119
-
-
Reiners, J.1
Nagel-Wolfrum, K.2
Jurgens, K.3
Marker, T.4
Wolfrum, U.5
-
9
-
-
33749019339
-
Usher syndrome: Molecular links of pathogenesis, proteins and pathways
-
Kremer, H., van Wijk, E., Mä rker, T., Wolfrum, U. & Roepman, R. Usher syndrome: molecular links of pathogenesis, proteins and pathways. Hum. Mol. Genet. 15, R262-R270 (2006).
-
(2006)
Hum. Mol. Genet.
, vol.15
-
-
Kremer, H.1
Van Wijk, E.2
Märker, T.3
Wolfrum, U.4
Roepman, R.5
-
10
-
-
27844517356
-
Usher i syndrome: Unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells
-
El-Amraoui, A. & Petit, C. Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells. J. Cell Sci. 118, 4593-4603 (2005).
-
(2005)
J. Cell Sci.
, vol.118
, pp. 4593-4603
-
-
El-Amraoui, A.1
Petit, C.2
-
11
-
-
13544276525
-
Interactions in the network of Usher syndrome type 1 proteins
-
Adato, A., Michel, V., Kikkawa, Y., Reiners, J., Alagramam, K. N., Weil, D. et al. Interactions in the network of Usher syndrome type 1 proteins. Hum. Mol. Genet. 14, 347-356 (2005).
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 347-356
-
-
Adato, A.1
Michel, V.2
Kikkawa, Y.3
Reiners, J.4
Alagramam, K.N.5
Weil, D.6
-
12
-
-
37549042393
-
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells
-
Maerker, T., van Wijk, E., Overlack, N., Kersten, F. F., McGee, J., Goldmann, T. et al. A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum. Mol. Genet. 17, 71-86 (2008).
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 71-86
-
-
Maerker, T.1
Van Wijk, E.2
Overlack, N.3
Kersten, F.F.4
McGee, J.5
Goldmann, T.6
-
13
-
-
67650564926
-
Clarin-1, encoded by the Usher syndrome III causative gene, forms a membranous microdomain: Possible role of clarin-1 in organizing the actin cytoskeleton
-
Tian, G., Zhou, Y., Hajkova, D., Miyagi, M., Dinculescu, A., Hauswirth, W. W. et al. Clarin-1, encoded by the Usher syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton. J. Biol. Chem. 284, 18980-18993 (2009).
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 18980-18993
-
-
Tian, G.1
Zhou, Y.2
Hajkova, D.3
Miyagi, M.4
Dinculescu, A.5
Hauswirth, W.W.6
-
14
-
-
0024590795
-
Usher syndrome: An otoneurologic study
-
Moller, C. G., Kimberling, W. J., Davenport, S. L., Priluck, I., White, V., Biscone- Halterman, K. et al. Usher syndrome: an otoneurologic study. Laryngoscope 99, 73-79 (1989).
-
(1989)
Laryngoscope
, vol.99
, pp. 73-79
-
-
Moller, C.G.1
Kimberling, W.J.2
Davenport, S.L.3
Priluck, I.4
White, V.5
Biscone- Halterman, K.6
-
15
-
-
0031014526
-
Usher syndrome in the city of Birmingham: Prevalence and clinical classification
-
Hope, C. I., Bundey, S., Proops, D. & Fielder, A. R. Usher syndrome in the city of Birmingham: prevalence and clinical classification. Br. J. Ophthalmol. 81, 46-53 (1997).
-
(1997)
Br. J. Ophthalmol.
, vol.81
, pp. 46-53
-
-
Hope, C.I.1
Bundey, S.2
Proops, D.3
Fielder, A.R.4
-
16
-
-
0021710774
-
Vestibular and auditory function in Usher syndrome
-
Kumar, A., Fishman, G. & Torok, N. Vestibular and auditory function in Usher syndrome. Ann. Otol. Rhinol. Laryngol. 93, 600-608 (1984).
-
(1984)
Ann. Otol. Rhinol. Laryngol.
, vol.93
, pp. 600-608
-
-
Kumar, A.1
Fishman, G.2
Torok, N.3
-
17
-
-
0032953188
-
Hearing impairment related to age in Usher syndrome types 1B and 2A
-
Wagenaar, M., Van Aarem, A., Huygen, P., Pieke-Dahl, S., Kimberling, W. & Cremers, C. Hearing impairment related to age in Usher syndrome types 1B and 2A. Arch. Otolaryngol. Head Neck Surg. 125, 441-445 (1999).
-
(1999)
Arch. Otolaryngol. Head Neck Surg.
, vol.125
, pp. 441-445
-
-
Wagenaar, M.1
Van Aarem, A.2
Huygen, P.3
Pieke-Dahl, S.4
Kimberling, W.5
Cremers, C.6
-
18
-
-
0037342561
-
Usher syndrome and cochlear implantation
-
Loundon, N., Marlin, S., Busquet, D., Denoyelle, F., Roger, G., Renaud, F. et al. Usher syndrome and cochlear implantation. Otol. Neurotol. 24, 216-221 (2003).
-
(2003)
Otol. Neurotol.
, vol.24
, pp. 216-221
-
-
Loundon, N.1
Marlin, S.2
Busquet, D.3
Denoyelle, F.4
Roger, G.5
Renaud, F.6
-
19
-
-
0034524574
-
Early diagnosis of Usher syndrome in children
-
Mets, M. B., Young, N. M., Pass, A. & Lasky, J. B. Early diagnosis of Usher syndrome in children. Trans. Am. Ophthalmol. Soc. 98, 237-242 (2000).
-
(2000)
Trans. Am. Ophthalmol. Soc.
, vol.98
, pp. 237-242
-
-
Mets, M.B.1
Young, N.M.2
Pass, A.3
Lasky, J.B.4
-
20
-
-
33745241128
-
Audiologic performance and benefit of cochlear implantation in Usher syndrome type 1
-
Pennings, R. J., Damen, G. W., Snik, A. F., Hoefsloot, L., Cremers, C. W. & Mylanus, E. A. M. Audiologic performance and benefit of cochlear implantation in Usher syndrome type 1. Laryngoscope 116, 717-722 (2006).
-
(2006)
Laryngoscope
, vol.116
, pp. 717-722
-
-
Pennings, R.J.1
Damen, G.W.2
Snik, A.F.3
Hoefsloot, L.4
Cremers, C.W.5
Mylanus, E.A.M.6
-
21
-
-
42749095522
-
Cochlear implantation in individuals with Usher type 1 syndrome
-
Liu, X. Z., Angeli, S. I., Rajput, K., Yan, D., Hodges, A. V., Eshraghi, A. et al. Cochlear implantation in individuals with Usher type 1 syndrome. Int. J. Pediatr. Otorhinolaryngol. 72, 841-847 (2008).
-
(2008)
Int. J. Pediatr. Otorhinolaryngol.
, vol.72
, pp. 841-847
-
-
Liu, X.Z.1
Angeli, S.I.2
Rajput, K.3
Yan, D.4
Hodges, A.V.5
Eshraghi, A.6
-
22
-
-
0028860302
-
A type VII myosin encoded by the mouse deafness gene shaker-1
-
Gibson, F., Walsh, J., Mburu, P., Varela, A., Brown, K. A., Antonio, M. et al. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 374, 62-64 (1995).
-
(1995)
Nature
, vol.374
, pp. 62-64
-
-
Gibson, F.1
Walsh, J.2
Mburu, P.3
Varela, A.4
Brown, K.A.5
Antonio, M.6
-
23
-
-
0028815440
-
Defective myosin VIIA gene responsible for Usher syndrome type 1B
-
Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J. et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374, 60-61 (1995).
-
(1995)
Nature
, vol.374
, pp. 60-61
-
-
Weil, D.1
Blanchard, S.2
Kaplan, J.3
Guilford, P.4
Gibson, F.5
Walsh, J.6
-
24
-
-
0035158639
-
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
-
Bolz, H., von Brederlow, B., Ramirez, A., Bryda, E. C., Kutsche, K., Nothwang, H. G. et al. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat. Genet. 27, 108-112 (2001).
-
(2001)
Nat. Genet.
, vol.27
, pp. 108-112
-
-
Bolz, H.1
Von Brederlow, B.2
Ramirez, A.3
Bryda, E.C.4
Kutsche, K.5
Nothwang, H.G.6
-
25
-
-
0035168168
-
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
-
Bork, J. M., Peters, L. M., Riazuddin, S., Bernstein, S. L., Ahmed, Z. M., Ness, S. L. et al. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am. J. Hum. Genet. 68, 26-37 (2001).
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 26-37
-
-
Bork, J.M.1
Peters, L.M.2
Riazuddin, S.3
Bernstein, S.L.4
Ahmed, Z.M.5
Ness, S.L.6
-
26
-
-
0034968358
-
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
-
Ahmed, Z. M., Riazuddin, S., Bernstein, S. L., Ahmed, Z., Khan, S., Griffith, A. J. et al. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am. J. Hum. Genet. 69, 25-34 (2001).
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 25-34
-
-
Ahmed, Z.M.1
Riazuddin, S.2
Bernstein, S.L.3
Ahmed, Z.4
Khan, S.5
Griffith, A.J.6
-
27
-
-
0035421436
-
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
-
Alagramam, K. N., Yuan, H., Kuehn, M. H., Murcia, C. L., Wayne, S., Srisailpathy, C. et al. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum. Mol. Genet. 10, 1709-1718 (2001).
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1709-1718
-
-
Alagramam, K.N.1
Yuan, H.2
Kuehn, M.H.3
Murcia, C.L.4
Wayne, S.5
Srisailpathy, C.6
-
28
-
-
0033822063
-
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
-
Bitner-Glindzicz, M., Lindley, K. J., Rutland, P., Blaydon, D., Smith, V. V., Milla, P. J. et al. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat. Genet. 26, 56-60 (2000).
-
(2000)
Nat. Genet.
, vol.26
, pp. 56-60
-
-
Bitner-Glindzicz, M.1
Lindley, K.J.2
Rutland, P.3
Blaydon, D.4
Smith, V.V.5
Milla, P.J.6
-
29
-
-
0033816925
-
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
-
Verpy, E., Leibovici, M., Zwaenepoel, I., Liu, X. Z., Gal, A., Salem, N. et al. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat. Genet. 26, 51-55 (2000).
-
(2000)
Nat. Genet.
, vol.26
, pp. 51-55
-
-
Verpy, E.1
Leibovici, M.2
Zwaenepoel, I.3
Liu, X.Z.4
Gal, A.5
Salem, N.6
-
30
-
-
0037337023
-
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice
-
Kikkawa, Y., Shitara, H., Wakana, S., Kohara, Y., Takada, T., Okamoto, M. et al. Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Hum. Mol. Genet. 12, 453-461 (2003).
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 453-461
-
-
Kikkawa, Y.1
Shitara, H.2
Wakana, S.3
Kohara, Y.4
Takada, T.5
Okamoto, M.6
-
31
-
-
0037341463
-
Usher syndrome type 1G (USH1G) is caused by mutations in the gene encoding sans, a protein that associates with the USH1C protein, harmonin
-
Weil, D., El-Amraoui, A., Masmoudi, S., Mustapha, M., Kikkawa, Y., Laine, S. et al. Usher syndrome type 1G (USH1G) is caused by mutations in the gene encoding sans, a protein that associates with the USH1C protein, harmonin. Hum. Mol. Genet. 12, 463-471 (2003).
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 463-471
-
-
Weil, D.1
El-Amraoui, A.2
Masmoudi, S.3
Mustapha, M.4
Kikkawa, Y.5
Laine, S.6
-
32
-
-
0008488382
-
Epidemiology of Usher syndrome in Valencia and Spain
-
Espinos, C., Millan, J. M., Beneyto, M. & Najera, C. Epidemiology of Usher syndrome in Valencia and Spain. Community Genet. 1, 223-228 (1998).
-
(1998)
Community Genet
, vol.1
, pp. 223-228
-
-
Espinos, C.1
Millan, J.M.2
Beneyto, M.3
Najera, C.4
-
33
-
-
0036951477
-
Prevalence and geographical distribution of Usher syndrome in Germany
-
Spandau, U. H. & Rohrschneider, K. Prevalence and geographical distribution of Usher syndrome in Germany. Graefes Arch. Clin. Exp. Ophthalmol. 240, 495-498 (2002).
-
(2002)
Graefes Arch. Clin. Exp. Ophthalmol.
, vol.240
, pp. 495-498
-
-
Spandau, U.H.1
Rohrschneider, K.2
-
34
-
-
0033646476
-
Genetic heterogeneity of Usher syndrome: Analysis of 151 families with Usher type 1
-
Astuto, L. M., Weston, M. D., Carney, C. A., Hoover, D. M., Cremers, C. W. et al. Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type 1. Am. J. Hum. Genet. 67, 1569-1574 (2000).
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 1569-1574
-
-
Astuto, L.M.1
Weston, M.D.2
Carney, C.A.3
Hoover, D.M.4
Cremers, C.W.5
-
35
-
-
14044278263
-
Characterization of Usher syndrome type 1 gene mutations in an Usher syndrome patient population
-
Ouyang, X. M., Yan, D., Du, L. L., Hejtmancik, J. F., Jacobson, S. G., Nance, W. E. et al. Characterization of Usher syndrome type 1 gene mutations in an Usher syndrome patient population. Hum. Genet. 116, 292-299 (2005).
-
(2005)
Hum. Genet.
, vol.116
, pp. 292-299
-
-
Ouyang, X.M.1
Yan, D.2
Du, L.L.3
Hejtmancik, J.F.4
Jacobson, S.G.5
Nance, W.E.6
-
36
-
-
0242711914
-
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome
-
Ben Yosef, T., Ness, S. L., Madeo, A. C., Bar-Lev, A., Wolfman, J. H., Ahmed, Z. M. et al. A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N. Engl. J. Med. 348, 1664-1670 (2003).
-
(2003)
N. Engl. J. Med.
, vol.348
, pp. 1664-1670
-
-
Ben Yosef, T.1
Ness, S.L.2
Madeo, A.C.3
Bar-Lev, A.4
Wolfman, J.H.5
Ahmed, Z.M.6
-
37
-
-
2442718924
-
The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa
-
Brownstein, Z., Ben Yosef, T., Dagan, O., Frydman, M., Abeliovich, D., Sagi, M. et al. The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. Pediatr. Res. 55, 995-1000 (2004).
-
(2004)
Pediatr. Res.
, vol.55
, pp. 995-1000
-
-
Brownstein, Z.1
Ben Yosef, T.2
Dagan, O.3
Frydman, M.4
Abeliovich, D.5
Sagi, M.6
-
38
-
-
0031044328
-
Usher syndrome type 1C: Clinical studies and fine-mapping the disease locus
-
Marietta, J., Walters, K. S., Burgess, R., Ni, L., Fukushima, K., Moore, K. C. et al. Usher syndrome type 1C: clinical studies and fine-mapping the disease locus. Ann. Otol. Rhinol. Laryngol. 106, 123-128 (1997).
-
(1997)
Ann. Otol. Rhinol. Laryngol.
, vol.106
, pp. 123-128
-
-
Marietta, J.1
Walters, K.S.2
Burgess, R.3
Ni, L.4
Fukushima, K.5
Moore, K.C.6
-
39
-
-
0043133758
-
USH1C: A rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele
-
Ouyang, X. M., Hejtmancik, J. F., Jacobson, S. G., Xia, X. J., Li, A., Du, L. L. et al. USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele. Clin. Genet. 63, 150-153 (2003).
-
(2003)
Clin. Genet.
, vol.63
, pp. 150-153
-
-
Ouyang, X.M.1
Hejtmancik, J.F.2
Jacobson, S.G.3
Xia, X.J.4
Li, A.5
Du, L.L.6
-
40
-
-
0042131743
-
The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK
-
Blaydon, D. C., Mueller, R. F., Hutchin, T. P., Leroy, B. P., Bhattacharya, S. S., Bird, A. C. et al. The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK. Clin. Genet. 63, 303-307 (2003).
-
(2003)
Clin. Genet.
, vol.63
, pp. 303-307
-
-
Blaydon, D.C.1
Mueller, R.F.2
Hutchin, T.P.3
Leroy, B.P.4
Bhattacharya, S.S.5
Bird, A.C.6
-
41
-
-
0032216552
-
Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome
-
Liu, X. Z., Hope, C., Walsh, J., Newton, V., Ke, X. M., Liang, C. Y. et al. Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. Am. J. Hum. Genet. 63, 909-912 (1998).
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 909-912
-
-
Liu, X.Z.1
Hope, C.2
Walsh, J.3
Newton, V.4
Ke, X.M.5
Liang, C.Y.6
-
42
-
-
0031278277
-
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
-
Liu, X. Z., Walsh, J., Tamagawa, Y., Kitamura, K., Nishizawa, M., Steel, K. P. et al. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat. Genet. 17, 268-269 (1997).
-
(1997)
Nat. Genet.
, vol.17
, pp. 268-269
-
-
Liu, X.Z.1
Walsh, J.2
Tamagawa, Y.3
Kitamura, K.4
Nishizawa, M.5
Steel, K.P.6
-
43
-
-
0036162703
-
Phenotype of DFNA11: A nonsyndromic hearing loss caused by a myosin VIIA mutation
-
Tamagawa, Y., Ishikawa, K., Ishikawa, K., Ishida, T., Kitamura, K., Makino, S. et al. Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation. Laryngoscope 112, 292-297 (2002). (Pubitemid 34135875)
-
(2002)
Laryngoscope
, vol.112
, Issue.2
, pp. 292-297
-
-
Tamagawa, Y.1
Ishikawa, K.2
Ishikawa, K.3
Ishida, T.4
Kitamura, K.5
Makino, S.6
Tsuru, T.7
Ichimura, K.8
-
44
-
-
3042844210
-
Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation
-
Street, V. A., Kallman, J. C. & Kiemele, K. L. Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation. J. Med. Genet. 41, e62 (2004).
-
(2004)
J. Med. Genet.
, vol.41
-
-
Street, V.A.1
Kallman, J.C.2
Kiemele, K.L.3
-
45
-
-
3543020910
-
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)
-
Luijendijk, M. W., Van Wijk, E., Bischoff, A. M., Krieger, E., Huygen, P. L., Pennings, R. J. et al. Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). Hum. Genet. 115, 149-156 (2004).
-
(2004)
Hum. Genet.
, vol.115
, pp. 149-156
-
-
Luijendijk, M.W.1
Van Wijk, E.2
Bischoff, A.M.3
Krieger, E.4
Huygen, P.L.5
Pennings, R.J.6
-
46
-
-
16644362496
-
Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11)
-
Bolz, H., Bolz, S. S., Schade, G., Kothe, C., Mohrmann, G., Hess, M. et al. Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). Hum. Mutat. 24, 274-275 (2004).
-
(2004)
Hum. Mutat.
, vol.24
, pp. 274-275
-
-
Bolz, H.1
Bolz, S.S.2
Schade, G.3
Kothe, C.4
Mohrmann, G.5
Hess, M.6
-
47
-
-
33645990900
-
Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11)
-
Di Leva, F., D'Adamo, P., Cubellis, M. V., D'Eustacchio, A., Errichiello, M., Saulino, C. et al. Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11). Audiol. Neurootol. 11, 157-164 (2006).
-
(2006)
Audiol. Neurootol.
, vol.11
, pp. 157-164
-
-
Di Leva, F.1
D'Adamo, P.2
Cubellis, M.V.3
D'Eustacchio, A.4
Errichiello, M.5
Saulino, C.6
-
48
-
-
0030960855
-
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
-
Liu, X. Z., Walsh, J., Mburu, P., Kendrick-Jones, J., Cope, M. J., Steel, K. P. et al. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat. Genet. 16, 188-190 (1997).
-
(1997)
Nat. Genet.
, vol.16
, pp. 188-190
-
-
Liu, X.Z.1
Walsh, J.2
Mburu, P.3
Kendrick-Jones, J.4
Cope, M.J.5
Steel, K.P.6
-
49
-
-
0030951102
-
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
-
Weil, D., Kussel, P., Blanchard, S., Levy, G., Levi-Acobas, F., Drira, M. et al. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat. Genet. 16, 191-193 (1997).
-
(1997)
Nat. Genet.
, vol.16
, pp. 191-193
-
-
Weil, D.1
Kussel, P.2
Blanchard, S.3
Levy, G.4
Levi-Acobas, F.5
Drira, M.6
-
50
-
-
0036626684
-
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC
-
Ahmed, Z. M., Smith, T. N., Riazuddin, S., Makishima, T., Ghosh, M., Bokhari, S. et al. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum. Genet. 110, 527-531 (2002).
-
(2002)
Hum. Genet.
, vol.110
, pp. 527-531
-
-
Ahmed, Z.M.1
Smith, T.N.2
Riazuddin, S.3
Makishima, T.4
Ghosh, M.5
Bokhari, S.6
-
51
-
-
0036664454
-
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness
-
Ouyang, X. M., Xia, X. J., Verpy, E., Du, L. L., Pandya, A., Petit, C. et al. Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. Hum. Genet. 111, 26-30 (2002).
-
(2002)
Hum. Genet.
, vol.111
, pp. 26-30
-
-
Ouyang, X.M.1
Xia, X.J.2
Verpy, E.3
Du, L.L.4
Pandya, A.5
Petit, C.6
-
52
-
-
0348013128
-
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
-
Ahmed, Z. M., Riazuddin, S., Ahmad, J., Bernstein, S. L., Guo, Y., Sabar, M. F. et al. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum. Mol. Genet. 12, 3215-3223 (2003).
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 3215-3223
-
-
Ahmed, Z.M.1
Riazuddin, S.2
Ahmad, J.3
Bernstein, S.L.4
Guo, Y.5
Sabar, M.F.6
-
53
-
-
18444366182
-
CDH23 mutation and phenotype heterogeneity: A profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
-
Astuto, L. M., Bork, J. M., Weston, M. D., Askew, J. W., Fields, R. R., Orten, D. J. et al. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am. J. Hum. Genet. 71, 262-275 (2002).
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 262-275
-
-
Astuto, L.M.1
Bork, J.M.2
Weston, M.D.3
Askew, J.W.4
Fields, R.R.5
Orten, D.J.6
-
54
-
-
28544450594
-
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome
-
Kalay, E., de Brouwer, A. P., Caylan, R., Nabuurs, S. B., Wollnik, B., Karaguzel, A. et al. A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. J. Mol. Med. 83, 1025-1032 (2005).
-
(2005)
J. Mol. Med.
, vol.83
, pp. 1025-1032
-
-
Kalay, E.1
De Brouwer, A.P.2
Caylan, R.3
Nabuurs, S.B.4
Wollnik, B.5
Karaguzel, A.6
-
55
-
-
0036117719
-
Usher syndrome clinical types 1 and 2: Could ocular symptoms and signs differentiate between the two types?
-
Tsilou, E. T., Rubin, B. I., Caruso, R. C., Reed, G. F., Pikus, A., Hejtmancik, J. F. et al. Usher syndrome clinical types 1 and 2: could ocular symptoms and signs differentiate between the two types? Acta. Ophthalmol. Scand. 80, 196-201 (2002).
-
(2002)
Acta. Ophthalmol. Scand.
, vol.80
, pp. 196-201
-
-
Tsilou, E.T.1
Rubin, B.I.2
Caruso, R.C.3
Reed, G.F.4
Pikus, A.5
Hejtmancik, J.F.6
-
56
-
-
1542427273
-
Kinetics of visual field loss in Usher syndrome type 2
-
Iannaccone, A., Kritchevsky, S. B., Ciccarelli, M. L., Tedesco, S. A., Macaluso, C., Kimberling, W. J. et al. Kinetics of visual field loss in Usher syndrome type 2. Invest. Ophthalmol. Vis. Sci. 45, 784-792 (2004).
-
(2004)
Invest. Ophthalmol. Vis. Sci.
, vol.45
, pp. 784-792
-
-
Iannaccone, A.1
Kritchevsky, S.B.2
Ciccarelli, M.L.3
Tedesco, S.A.4
MacAluso, C.5
Kimberling, W.J.6
-
57
-
-
0033008616
-
Comparative study of visual, auditory, and olfactory function in Usher syndrome
-
Seeliger, M., Pfister, M., Gendo, K., Paasch, S., Apfelstedt-Sylla, E., Plinkert, P. et al. Comparative study of visual, auditory, and olfactory function in Usher syndrome. Graefes Arch. Clin. Exp. Ophthalmol. 237, 301-307 (1999).
-
(1999)
Graefes Arch. Clin. Exp. Ophthalmol.
, vol.237
, pp. 301-307
-
-
Seeliger, M.1
Pfister, M.2
Gendo, K.3
Paasch, S.4
Apfelstedt-Sylla, E.5
Plinkert, P.6
-
58
-
-
0034761079
-
Identification of Usher syndrome subtypes by ERG implicit time
-
Seeliger, M. W., Zrenner, E., Apfelstedt-Sylla, E. & Jaissle, G. B. Identification of Usher syndrome subtypes by ERG implicit time. Invest. Ophthalmol. Vis. Sci. 42, 3066-3071.
-
Invest. Ophthalmol. Vis. Sci.
, vol.42
, pp. 3066-3071
-
-
Seeliger, M.W.1
Zrenner, E.2
Apfelstedt-Sylla, E.3
Jaissle, G.B.4
-
60
-
-
0033940001
-
Genomic structure and identification of novel mutations in Usherin, the gene responsible for Usher syndrome type IIA
-
Weston, M. D., Eudy, J. D., Fujita, S., Yoo, S. F., Usami, S., Cremers, C. et al. Genomic structure and identification of novel mutations in Usherin, the gene responsible for Usher syndrome type IIA. Am. J. Hum. Genet. 66, 1199-1210 (2000).
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1199-1210
-
-
Weston, M.D.1
Eudy, J.D.2
Fujita, S.3
Yoo, S.F.4
Usami, S.5
Cremers, C.6
-
61
-
-
0032526489
-
Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of Usher syndrome type IIa at 1q41
-
Eudy, J. D., Yao, S., Weston, M. D., Ma-Edmonds, M., Talmadge, C. B., Cheng, J. J. et al. Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of Usher syndrome type IIa at 1q41. Genomics 50, 382-384 (1998).
-
(1998)
Genomics
, vol.50
, pp. 382-384
-
-
Eudy, J.D.1
Yao, S.2
Weston, M.D.3
Ma-Edmonds, M.4
Talmadge, C.B.5
Cheng, J.J.6
-
62
-
-
0032511101
-
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type 2a
-
Eudy, J. D., Weston, M. D., Yao, S., Hoover, D. M., Rehm, H. L., Ma-Edmonds, M. et al. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type 2a. Science 280, 1753-1757 (1998).
-
(1998)
Science
, vol.280
, pp. 1753-1757
-
-
Eudy, J.D.1
Weston, M.D.2
Yao, S.3
Hoover, D.M.4
Rehm, H.L.5
Ma-Edmonds, M.6
-
63
-
-
1842592042
-
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II
-
Van Wijk, E., Pennings, R. J., Te, B. H., Claassen, A., Yntema, H. G. & Hoefsloot, L. H. Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am. J. Hum. Genet. 74, 738-744 (2004).
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 738-744
-
-
Van Wijk, E.1
Pennings, R.J.2
Te, B.H.3
Claassen, A.4
Yntema, H.G.5
Hoefsloot, L.H.6
-
64
-
-
0033358594
-
Amutation in the Usher syndrome type IIA gene: High prevalence and phenotypic variation
-
Liu, X. Z., Hope, C., Liang, C. Y., Zou, J. M., Xu, L. R., Cole, T. et al. Amutation in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. Am. J. Hum. Genet. 64, 1221-1225 (1999).
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1221-1225
-
-
Liu, X.Z.1
Hope, C.2
Liang, C.Y.3
Zou, J.M.4
Xu, L.R.5
Cole, T.6
-
65
-
-
0037268763
-
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: High prevalence and phenotypic variation
-
Bernal, S., Ayuso, C., Antiñolo, G., Gimenez, A., Borrego, S., Trujillo, M. J. et al. Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. J. Med. Genet. 40, e8 (2003).
-
(2003)
J. Med. Genet.
, vol.40
-
-
Bernal, S.1
Ayuso, C.2
Antiñolo, G.3
Gimenez, A.4
Borrego, S.5
Trujillo, M.J.6
-
66
-
-
23844543556
-
Clinical and genetic studies in Spanish patients with Usher syndrome type 2: Description of new mutations and evidence for a lack of genotype/phenotype correlation
-
Bernal, S., Meda, C., Solans, T., Ayuso, C., Garcia-Sandoval, B., Valverde, D. et al. Clinical and genetic studies in Spanish patients with Usher syndrome type 2: description of new mutations and evidence for a lack of genotype/phenotype correlation. Clin. Gen. 68, 204-214 (2005).
-
(2005)
Clin. Gen.
, vol.68
, pp. 204-214
-
-
Bernal, S.1
Meda, C.2
Solans, T.3
Ayuso, C.4
Garcia-Sandoval, B.5
Valverde, D.6
-
67
-
-
0033927821
-
Missense mutation in the USH2A gene: Association with recessive retinitis pigmentosa without hearing loss
-
Rivolta, C., Sweklo, E. A., Berson, E. L. & Dryja, T. P. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am. J. Hum. Genet. 66, 1975-1978 (2000).
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1975-1978
-
-
Rivolta, C.1
Sweklo, E.A.2
Berson, E.L.3
Dryja, T.P.4
-
68
-
-
4344578456
-
Comprehensive screening of the USH2A gene in Usher syndrome type 2 and non-syndromic recessive retinitis pigmentosa
-
Seyedahmadi, B. J., Rivolta, C., Keene, J. A., Berson, E. L. & Dryja, T. P. Comprehensive screening of the USH2A gene in Usher syndrome type 2 and non-syndromic recessive retinitis pigmentosa. Exp. Eye Res. 79, 167-173 (2004).
-
(2004)
Exp. Eye Res.
, vol.79
, pp. 167-173
-
-
Seyedahmadi, B.J.1
Rivolta, C.2
Keene, J.A.3
Berson, E.L.4
Dryja, T.P.5
-
69
-
-
9444292360
-
Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: Low prevalence and phenotypic variability
-
Aller, E., Jaijo, T., Oltra, S., Alio, J., Galan, F., Nájera, C. et al. Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability. Clin. Genet. 66, 525-529 (2004).
-
(2004)
Clin. Genet.
, vol.66
, pp. 525-529
-
-
Aller, E.1
Jaijo, T.2
Oltra, S.3
Alio, J.4
Galan, F.5
Nájera, C.6
-
70
-
-
0842328857
-
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
-
Weston, M. D., Luijendijk, M. W., Humphrey, K. D., Moller, C. & Kimberling, W. J. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am. J. Hum. Genet. 74, 357-366 (2004).
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 357-366
-
-
Weston, M.D.1
Luijendijk, M.W.2
Humphrey, K.D.3
Moller, C.4
Kimberling, W.J.5
-
71
-
-
33947148611
-
A novel gene for Usher syndrome type 2: Mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
-
Ebermann, I., Scholl, H. P., Charbel Issa, P., Becirovic, E., Lamprecht, J., Jurklies, B. et al. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum. Genet. 121, 203-211 (2007).
-
(2007)
Hum. Genet.
, vol.121
, pp. 203-211
-
-
Ebermann, I.1
Scholl, H.P.2
Charbel Issa, P.3
Becirovic, E.4
Lamprecht, J.5
Jurklies, B.6
-
72
-
-
0043168114
-
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
-
Mburu, P., Mustapha, M., Varela, A., Weil, D., El-Amraoui, A., Holme, R. H. et al. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat. Genet. 34, 421-428 (2003).
-
(2003)
Nat. Genet.
, vol.34
, pp. 421-428
-
-
Mburu, P.1
Mustapha, M.2
Varela, A.3
Weil, D.4
El-Amraoui, A.5
Holme, R.H.6
-
73
-
-
0021056662
-
An unusual otological manifestation of Usher syndrome in four siblings
-
Karjalainen, S., Terasvirta, M., Karja, J. & Kaariainen, H. An unusual otological manifestation of Usher syndrome in four siblings. Clin. Genet. 24, 273-279 (1983).
-
(1983)
Clin. Genet.
, vol.24
, pp. 273-279
-
-
Karjalainen, S.1
Terasvirta, M.2
Karja, J.3
Kaariainen, H.4
-
74
-
-
0021940298
-
Usher syndrome type 3: ENG findings in four affected and six unaffected siblings
-
Karjalainen, S., Terasvirta, M., Karja, J. & Kaariainen, H. Usher syndrome type 3: ENG findings in four affected and six unaffected siblings. J. Laryngol. Otol. 99, 43-48 (1985).
-
(1985)
J. Laryngol. Otol.
, vol.99
, pp. 43-48
-
-
Karjalainen, S.1
Terasvirta, M.2
Karja, J.3
Kaariainen, H.4
-
75
-
-
0028295151
-
Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium
-
Smith, R. J., Berlin, C. I., Hejtmancik, J. F., Keats, B. J., Kimberling, W. J., Lewis, R. A. et al. Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am. J. Med. Genet. 50, 32-38 (1994).
-
(1994)
Am. J. Med. Genet.
, vol.50
, pp. 32-38
-
-
Smith, R.J.1
Berlin, C.I.2
Hejtmancik, J.F.3
Keats, B.J.4
Kimberling, W.J.5
Lewis, R.A.6
-
76
-
-
0142209180
-
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III
-
Ness, S. L., Ben Yosef, T., Bar-Lev, A., Madeo, A. C., Brewer, C. C., Avraham, K. B. et al. Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type 3. J. Med. Genet. 40, 767-772 (2003). (Pubitemid 37311077)
-
(2003)
Journal of Medical Genetics
, vol.40
, Issue.10
, pp. 767-772
-
-
Ness, S.L.1
Ben-Yosef, T.2
Bar-Lev, A.3
Madeo, A.C.4
Brewer, C.C.5
Avraham, K.B.6
Kornreich, R.7
Desnick, R.J.8
Willner, J.P.9
Friedman, T.B.10
Griffith, A.J.11
-
77
-
-
0029035464
-
Usher's syndrome type 3 in Finland
-
Pakarinen, L., Karjalainen, S., Simola, K. O., Laippala, P. & Kaitalo, H. Usher's syndrome type 3 in Finland. Laryngoscope 105, 613-617 (1995).
-
(1995)
Laryngoscope
, vol.105
, pp. 613-617
-
-
Pakarinen, L.1
Karjalainen, S.2
Simola, K.O.3
Laippala, P.4
Kaitalo, H.5
-
78
-
-
0036021030
-
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
-
Adato, A., Vreugde, S., Joensuu, T., Avidan, N., Hamalainen, R., Belenkiy, O. et al. USH3A transcripts encode clarin-1, a four-transmembrane- domain protein with a possible role in sensory synapses. Eur. J. Hum. Genet. 10, 339-350 (2002).
-
(2002)
Eur. J. Hum. Genet.
, vol.10
, pp. 339-350
-
-
Adato, A.1
Vreugde, S.2
Joensuu, T.3
Avidan, N.4
Hamalainen, R.5
Belenkiy, O.6
-
79
-
-
0034835042
-
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3
-
Joensuu, T., Hamalainen, R., Yuan, B., Johnson, C., Tegelberg, S., Gasparini, P. et al. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am. J. Hum. Genet. 69, 673-684 (2001).
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 673-684
-
-
Joensuu, T.1
Hamalainen, R.2
Yuan, B.3
Johnson, C.4
Tegelberg, S.5
Gasparini, P.6
-
80
-
-
19944389903
-
Serial audiometry and speech recognition findings in Finnish Usher syndrome type 3 patients
-
Plantinga, R. F., Kleemola, L., Huygen, P. L., Joensuu, T., Sankila, E. M., Pennings, R. J. et al. Serial audiometry and speech recognition findings in Finnish Usher syndrome type 3 patients. Audiol. Neurootol. 10, 79-89 (2005).
-
(2005)
Audiol. Neurootol.
, vol.10
, pp. 79-89
-
-
Plantinga, R.F.1
Kleemola, L.2
Huygen, P.L.3
Joensuu, T.4
Sankila, E.M.5
Pennings, R.J.6
-
81
-
-
0036723958
-
Usher syndrome type 3: Revised genomic structure of the USH3 gene and identification of novel mutations
-
Fields, R. R., Zhou, G., Huang, D., Davis, J. R., Moller, C., Jacobson, S. G. et al. Usher syndrome type 3: revised genomic structure of the USH3 gene and identification of novel mutations. Am. J. Hum. Genet. 71, 607-617 (2002).
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 607-617
-
-
Fields, R.R.1
Zhou, G.2
Huang, D.3
Davis, J.R.4
Moller, C.5
Jacobson, S.G.6
-
82
-
-
31544470936
-
USH1A: Chronicle of a slow death
-
Gerber, S., Bonneau, D., Gilbert, B., Munnich, A., Dufier, J. L., Rozet, J. M. et al. USH1A: chronicle of a slow death. Am. J. Hum. Genet. 78, 357-359 (2006).
-
(2006)
Am. J. Hum. Genet.
, vol.78
, pp. 357-359
-
-
Gerber, S.1
Bonneau, D.2
Gilbert, B.3
Munnich, A.4
Dufier, J.L.5
Rozet, J.M.6
-
83
-
-
58149203209
-
A novel locus for type i Usher syndrome, maps to chromosome 15q22-23
-
Ahmed, Z., Riazuddin, S., Khan, S., Friedman, P., Riazuddin, S. & Friedman, T. B. A novel locus for type I Usher syndrome, maps to chromosome 15q22-23. Clin. Genet. 75, 86-91 (2009).
-
(2009)
Clin. Genet.
, vol.75
, pp. 86-91
-
-
Ahmed, Z.1
Riazuddin, S.2
Khan, S.3
Friedman, P.4
Riazuddin, S.5
Friedman, T.B.6
-
84
-
-
0030587490
-
Molecular cloning and domain structure of human myosin- VIIa, the gene product defective in Usher syndrome 1B
-
Chen, Z. Y., Hasson, T., Kelley, P. M., Schwender, B. J., Schwartz, M. F., Ramakrishnan, M. et al. Molecular cloning and domain structure of human myosin- VIIa, the gene product defective in Usher syndrome 1B. Genomics 36, 440-448 (1996).
-
(1996)
Genomics
, vol.36
, pp. 440-448
-
-
Chen, Z.Y.1
Hasson, T.2
Kelley, P.M.3
Schwender, B.J.4
Schwartz, M.F.5
Ramakrishnan, M.6
-
85
-
-
0042622252
-
ELM server: A new resource for investigating short functional sites in modular eukaryotic proteins
-
Puntervoll, P., Linding, R., Gemund, C., Chabanis-Davidson, S., Mattingsdal, M., Cameron, S. et al. ELM server: a new resource for investigating short functional sites in modular eukaryotic proteins. Nucleic Acids Res. 31, 3625-3630 (2003).
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3625-3630
-
-
Puntervoll, P.1
Linding, R.2
Gemund, C.3
Chabanis-Davidson, S.4
Mattingsdal, M.5
Cameron, S.6
-
86
-
-
0033569513
-
Molecular genetics of Usher syndrome
-
Eudy, J. D. & Sumegi, J. Molecular genetics of Usher syndrome. Cell Mol. Life Sci. 56, 258-267 (1999).
-
(1999)
Cell Mol. Life Sci.
, vol.56
, pp. 258-267
-
-
Eudy, J.D.1
Sumegi, J.2
-
87
-
-
0028787263
-
Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B
-
Hasson, T., Heintzelman, M. B., Santos-Sacchi, J., Corey, D. P. & Mooseker, M. S. Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. Proc. Natl Acad. Sci. USA 92, 9815-9819 (1995).
-
(1995)
Proc. Natl Acad. Sci. USA
, vol.92
, pp. 9815-9819
-
-
Hasson, T.1
Heintzelman, M.B.2
Santos-Sacchi, J.3
Corey, D.P.4
Mooseker, M.S.5
-
88
-
-
12244277402
-
Myosin VIIa, harmonin and cadherin 23, three Usher i gene products that cooperate to shape the sensory hair cell bundle
-
Boëda, B., El-Amraoui, A., Bahloul, A., Goodyear, R., Daviet, L., Blanchard, S. et al. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J. 21, 6689-6699 (2002).
-
(2002)
EMBO J
, vol.21
, pp. 6689-6699
-
-
Boëda, B.1
El-Amraoui, A.2
Bahloul, A.3
Goodyear, R.4
Daviet, L.5
Blanchard, S.6
-
89
-
-
18844363457
-
Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells
-
Michel, V., Goodyear, R. J., Weil, D., Marcotti, W., Perfettini, I., Wolfrum, U. et al. Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells. Dev. Biol. 280, 281-294 (2005).
-
(2005)
Dev. Biol.
, vol.280
, pp. 281-294
-
-
Michel, V.1
Goodyear, R.J.2
Weil, D.3
Marcotti, W.4
Perfettini, I.5
Wolfrum, U.6
-
90
-
-
84905556082
-
Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells
-
Sollner, C., Rauch, G. J., Siemens, J., Geisler, R., Schuster, S. C., Muller, U. et al. Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells. Nature 428, 955-959 (2004).
-
(2004)
Nature
, vol.428
, pp. 955-959
-
-
Sollner, C.1
Rauch, G.J.2
Siemens, J.3
Geisler, R.4
Schuster, S.C.5
Muller, U.6
-
91
-
-
18844448958
-
Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development
-
Lagziel, A., Ahmed, Z. M., Schultz, J. M., Morell, R. J., Belyantseva, I. A. & Friedman, T. B. Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development. Dev. Biol. 280, 295-306 (2005).
-
(2005)
Dev. Biol.
, vol.280
, pp. 295-306
-
-
Lagziel, A.1
Ahmed, Z.M.2
Schultz, J.M.3
Morell, R.J.4
Belyantseva, I.A.5
Friedman, T.B.6
-
92
-
-
34548509448
-
Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells
-
Kazmierczak, P., Sakaguchi, H., Tokita, J., Wilson-Kubalek, E. M., Milligan, R. A., Müller, U. et al. Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells. Nature 449, 87-91 (2007).
-
(2007)
Nature
, vol.449
, pp. 87-91
-
-
Kazmierczak, P.1
Sakaguchi, H.2
Tokita, J.3
Wilson-Kubalek, E.M.4
Milligan, R.A.5
Müller, U.6
-
93
-
-
12344290645
-
Digenic inheritance of deafness caused by mutations in genes encoding cadherin and protocadherin 15 in mice and humans
-
Zheng, Q. Y., Yan, D., Ouyang, X. M., Du, L. L., Yu, H., Chang, B. et al. Digenic inheritance of deafness caused by mutations in genes encoding cadherin and protocadherin 15 in mice and humans. Hum. Mol. Genet. 14, 103-111 (2005).
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 103-111
-
-
Zheng, Q.Y.1
Yan, D.2
Ouyang, X.M.3
Du, L.L.4
Yu, H.5
Chang, B.6
-
94
-
-
33745787321
-
The very large G-protein-coupled receptor VLGR1: A component of the ankle link complex required for the normal development of auditory hair bundles
-
McGee, J., Goodyear, R. J., McMillan, D. R., StauVer, E. A., Holt, J. R., Locke, K. G. et al. The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles. J. Neurosci. 26, 6543-6553 (2006).
-
(2006)
J. Neurosci.
, vol.26
, pp. 6543-6553
-
-
McGee, J.1
Goodyear, R.J.2
McMillan, D.R.3
Stauver, E.A.4
Holt, J.R.5
Locke, K.G.6
-
95
-
-
33144483550
-
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1
-
van Wijk, E., van der Zwaag, B., Peters, T., Zimmermann, U., te Brinke, H., Kersten, F. F. J. et al. The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum. Mol. Genet. 15, 751-765 (2006).
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 751-765
-
-
Van Wijk, E.1
Van Der Zwaag, B.2
Peters, T.3
Zimmermann, U.4
Te Brinke, H.5
Kersten, F.F.J.6
-
96
-
-
0037069346
-
The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions
-
Siemens, J., Kazmierczak, P., Reynolds, A., Sticker, M., Littlewood-Evans, A. & Müller, U. The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Proc. Natl Acad. Sci. USA 99, 14946-14951 (2002).
-
(2002)
Proc. Natl Acad. Sci. USA
, vol.99
, pp. 14946-14951
-
-
Siemens, J.1
Kazmierczak, P.2
Reynolds, A.3
Sticker, M.4
Littlewood-Evans, A.5
Müller, U.6
-
97
-
-
33644537736
-
Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells
-
Senften, M., Schwander, M., Kazmierczak, P., Lillo, C., Shin, J. B., Hasson, T. et al. Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells. J. Neurosci. 26, 2060-2071 (2006).
-
(2006)
J. Neurosci.
, vol.26
, pp. 2060-2071
-
-
Senften, M.1
Schwander, M.2
Kazmierczak, P.3
Lillo, C.4
Shin, J.B.5
Hasson, T.6
-
98
-
-
0026530109
-
Mechanoelectrical transduction by hair cells
-
Pickles, J. O. & Corey, D. P. Mechanoelectrical transduction by hair cells. Trends Neurosci. 15, 254-259 (1992).
-
(1992)
Trends Neurosci
, vol.15
, pp. 254-259
-
-
Pickles, J.O.1
Corey, D.P.2
-
99
-
-
0035855845
-
Molecular basis of mechanosensory transduction
-
Gillespie, P. G. & Walker, R. G. Molecular basis of mechanosensory transduction. Nature 413, 194-202 (2001).
-
(2001)
Nature
, vol.413
, pp. 194-202
-
-
Gillespie, P.G.1
Walker, R.G.2
-
100
-
-
0031916105
-
PDZ motifs in PTP-BL and RIL bind to internal protein segments in the LIM domain protein RIL
-
Cuppen, E., Gerrits, H., Pepers, B., Wieringa, B. & Hendriks, W. PDZ motifs in PTP-BL and RIL bind to internal protein segments in the LIM domain protein RIL. Mol. Biol. Cell 9, 671-683 (1998).
-
(1998)
Mol. Biol. Cell
, vol.9
, pp. 671-683
-
-
Cuppen, E.1
Gerrits, H.2
Pepers, B.3
Wieringa, B.4
Hendriks, W.5
-
101
-
-
0345530996
-
Mouse models of USH1C and DFNB18: Phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene
-
Johnson, K. R., Gagnon, L. H., Webb, L. S., Peters, L. L., Hawes, N. L., Chang, B. et al. Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene. Hum. Mol. Genet. 30, 3075-3086 (2003).
-
(2003)
Hum. Mol. Genet.
, vol.30
, pp. 3075-3086
-
-
Johnson, K.R.1
Gagnon, L.H.2
Webb, L.S.3
Peters, L.L.4
Hawes, N.L.5
Chang, B.6
-
102
-
-
33846683884
-
Ush1c216a knock-in mouse survives Katrina
-
Lentz, J., Pan, F., Ng, S. S., Deininger, P. & Keats, B. Ush1c216a knock-in mouse survives Katrina. Mutat. Res. 616, 139-144 (2007).
-
(2007)
Mutat. Res.
, vol.616
, pp. 139-144
-
-
Lentz, J.1
Pan, F.2
Ng, S.S.3
Deininger, P.4
Keats, B.5
-
103
-
-
77954171124
-
-
Association for Research in Otolaryngology Meeting. The Fairmont, New Orleans, LA, 19-24 February
-
Liu, X. Z., Zheng, Q. Y., Ouyang, X. M., Du, L. L., Johnson, K. R. & Yan, D. Gene targeting and homologous recombination for USH1C gene. Association for Research in Otolaryngology Meeting. The Fairmont, New Orleans, LA, 19-24 February 2005.
-
(2005)
Gene Targeting and Homologous Recombination for USH1C Gene
-
-
Liu, X.Z.1
Zheng, Q.Y.2
Ouyang, X.M.3
Du, L.L.4
Johnson, K.R.5
Yan, D.6
-
104
-
-
77954167270
-
-
Association for Research in Otolaryngology Meeting. Baltimore, February
-
Yan, D., Zheng, Q. Y., Ouyang, X. M., Yu, H., Longo-Guess, C. M., McCarty, C. et al. A gene knockout mouse model for Usher syndrome type 1C. Association for Research in Otolaryngology Meeting. Baltimore, February 2006.
-
(2006)
A Gene Knockout Mouse Model for Usher Syndrome Type 1C
-
-
Yan, D.1
Zheng, Q.Y.2
Ouyang, X.M.3
Yu, H.4
Longo-Guess, C.M.5
McCarty, C.6
-
105
-
-
0035168151
-
Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D
-
Di Palma, F., Holme, R. H., Bryda, E. C., Belyantseva, I. A., Pellegrino, R., Kachar, B. et al. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Nat. Genet. 27, 103-107 (2001).
-
(2001)
Nat. Genet.
, vol.27
, pp. 103-107
-
-
Di Palma, F.1
Holme, R.H.2
Bryda, E.C.3
Belyantseva, I.A.4
Pellegrino, R.5
Kachar, B.6
-
106
-
-
0035366320
-
Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice
-
Wilson, S. M., Householder, D. B., Coppola, V., Tessarollo, L., Fritzsch, B., Lee, E. C. et al. Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice. Genomics 74, 228-233 (2001).
-
(2001)
Genomics
, vol.74
, pp. 228-233
-
-
Wilson, S.M.1
Householder, D.B.2
Coppola, V.3
Tessarollo, L.4
Fritzsch, B.5
Lee, E.C.6
-
107
-
-
0035159856
-
The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene
-
Alagramam, K. N., Murcia, C. L., Kwon, H. Y., Pawlowski, K. S., Wright, C. G. & Woychik, R. P. The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nat. Genet. 27, 99-102 (2001).
-
(2001)
Nat. Genet.
, vol.27
, pp. 99-102
-
-
Alagramam, K.N.1
Murcia, C.L.2
Kwon, H.Y.3
Pawlowski, K.S.4
Wright, C.G.5
Woychik, R.P.6
-
108
-
-
34248353947
-
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells
-
Liu, X., Bulgakov, O. V., Darrow, K. N., Pawlyk, B., Adamian, M., Liberman, M. C. et al. Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc. Natl Acad. Sci. USA 104, 4413-4418 (2007).
-
(2007)
Proc. Natl Acad. Sci. USA
, vol.104
, pp. 4413-4418
-
-
Liu, X.1
Bulgakov, O.V.2
Darrow, K.N.3
Pawlyk, B.4
Adamian, M.5
Liberman, M.C.6
-
109
-
-
13544251711
-
Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly
-
Delprat, B., Michel, V., Goodyear, R., Yamasaki, Y., Michalski, N., El-Amraoui, A. et al. Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. Hum. Mol. Genet. 14, 401-410 (2005).
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 401-410
-
-
Delprat, B.1
Michel, V.2
Goodyear, R.3
Yamasaki, Y.4
Michalski, N.5
El-Amraoui, A.6
-
110
-
-
0029794058
-
Human Usher 1B/mouse shaker-1: The retinal phenotype discrepancy explained by the presence/ absence of myosinVIIA in the photoreceptor cells
-
el-Amraoui, A., Sahly, I., Picaud, S., Sahel, J., Abitbol, M. & Petit, C. Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/ absence of myosinVIIA in the photoreceptor cells. Hum. Mol. Genet. 5, 1171-1178 (1996).
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1171-1178
-
-
El-Amraoui, A.1
Sahly, I.2
Picaud, S.3
Sahel, J.4
Abitbol, M.5
Petit, C.6
-
111
-
-
0030965704
-
Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression
-
Hasson, T., Walsh, J., Cable, J., Mooseker, M. S., Brown, S. D. & Steel, K. P. Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression. Cell Motil. Cytoskeleton 37, 127-138 (1997).
-
(1997)
Cell Motil. Cytoskeleton
, vol.37
, pp. 127-138
-
-
Hasson, T.1
Walsh, J.2
Cable, J.3
Mooseker, M.S.4
Brown, S.D.5
Steel, K.P.6
-
112
-
-
0031884319
-
Shaker- 1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells
-
Self, T., Mahony, M., Fleming, J., Walsh, J., Brown, S. D. & Steel, K. P. Shaker- 1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development 125, 557-566 (1998).
-
(1998)
Development
, vol.125
, pp. 557-566
-
-
Self, T.1
Mahony, M.2
Fleming, J.3
Walsh, J.4
Brown, S.D.5
Steel, K.P.6
-
113
-
-
4344593388
-
A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment
-
Rhodes, C. R., Hertzano, R., Fuchs, H., Bell, R. E., de Angelis, M. H., Steel, K. P et al. A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment. Mamm. Genome 15, 686-697 (2004).
-
(2004)
Mamm. Genome
, vol.15
, pp. 686-697
-
-
Rhodes, C.R.1
Hertzano, R.2
Fuchs, H.3
Bell, R.E.4
De Angelis, M.H.5
Steel, K.P.6
-
114
-
-
50849144332
-
Cadherins and mechanotransduction by hair cells
-
Muller, U. Cadherins and mechanotransduction by hair cells. Curr. Opin. Cell Biol. 20, 557-566 (2008).
-
(2008)
Curr. Opin. Cell Biol.
, vol.20
, pp. 557-566
-
-
Muller, U.1
-
115
-
-
34250377309
-
Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning
-
Michalski, N., Michel, V., Bahloul, A., Lefèvre, G., Yagi, H., Barral, J. et al. Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning. J. Neurosci. 27, 6478-6488 (2007).
-
(2007)
J. Neurosci.
, vol.27
, pp. 6478-6488
-
-
Michalski, N.1
Michel, V.2
Bahloul, A.3
Lefèvre, G.4
Yagi, H.5
Barral, J.6
-
116
-
-
0034669042
-
Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex
-
Kussel-Andermann, P., El-Amraoui, A., Safieddine, S., Nouaille, S., Perfettini, I., Lecuit, M. et al. Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex. EMBO J. 19, 6020-6029 (2000).
-
(2000)
EMBO J
, vol.19
, pp. 6020-6029
-
-
Kussel-Andermann, P.1
El-Amraoui, A.2
Safieddine, S.3
Nouaille, S.4
Perfettini, I.5
Lecuit, M.6
-
117
-
-
33644963622
-
An isoform of GTPase regulator DOCK4 localizes to the stereocilia in the inner ear and binds to harmonin (USH1C)
-
Yan, D., Li, F., Hall, M. L., Sage, C., Hu, W. H., Giallourakis, C. et al. An isoform of GTPase regulator DOCK4 localizes to the stereocilia in the inner ear and binds to harmonin (USH1C). J. Mol. Biol. 357, 755-764 (2006).
-
(2006)
J. Mol. Biol.
, vol.357
, pp. 755-764
-
-
Yan, D.1
Li, F.2
Hall, M.L.3
Sage, C.4
Hu, W.H.5
Giallourakis, C.6
-
118
-
-
5644274022
-
Harp (harmonin-interacting, ankyrin repeat-containing protein), a novel protein that interacts with harmonin in epithelial tissues
-
Johnston, A. M., Naselli, G., Niwa, H., Brodnicki, T., Harrison, L. C. & Gonez, L. J. Harp (harmonin-interacting, ankyrin repeat-containing protein), a novel protein that interacts with harmonin in epithelial tissues. Genes Cells 9, 967-982 (2004).
-
(2004)
Genes Cells
, vol.9
, pp. 967-982
-
-
Johnston, A.M.1
Naselli, G.2
Niwa, H.3
Brodnicki, T.4
Harrison, L.C.5
Gonez, L.J.6
-
119
-
-
26444539665
-
Sustained cadherin 23 expression in young and adult cochlea of normal and hearing-impaired mice
-
Rzadzinska, A. K., Derr, A., Kachar, B. & Noben-Trauth, K. Sustained cadherin 23 expression in young and adult cochlea of normal and hearing-impaired mice. Hear. Res. 208, 114-121 (2005).
-
(2005)
Hear. Res.
, vol.208
, pp. 114-121
-
-
Rzadzinska, A.K.1
Derr, A.2
Kachar, B.3
Noben-Trauth, K.4
-
120
-
-
2342421512
-
Cadherin 23 is a component of the tip link in hair-cell stereocilia
-
Siemens, J., Lillo, C., Dumont, R. A., Reynolds, A., Williams, D. S., Gillespie, P. G. et al. Cadherin 23 is a component of the tip link in hair-cell stereocilia. Nature 428, 950-955 (2004).
-
(2004)
Nature
, vol.428
, pp. 950-955
-
-
Siemens, J.1
Lillo, C.2
Dumont, R.A.3
Reynolds, A.4
Williams, D.S.5
Gillespie, P.G.6
-
121
-
-
65249125855
-
A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells
-
Schwander, M., Xiong, W., Tokita, J., Lelli, A., Elledge, H. M., Kazmierczak, P. et al. A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. Proc. Natl Acad. Sci. USA 106, 5252-5257 (2009).
-
(2009)
Proc. Natl Acad. Sci. USA
, vol.106
, pp. 5252-5257
-
-
Schwander, M.1
Xiong, W.2
Tokita, J.3
Lelli, A.4
Elledge, H.M.5
Kazmierczak, P.6
|