-
1
-
-
0003539147
-
-
Gorlin RJ, Toriello HV, Cohen MM, eds: Oxford University Press, NY
-
Gorlin RJ, Toriello HV, Cohen MM, eds: Hereditary Hearing Loss and its Syndromes Oxford University Press, NY; 1995.
-
(1995)
Hereditary Hearing Loss and Its Syndromes
-
-
-
2
-
-
0030946546
-
Nonsyndromic hearing impairment: Unparalleled heterogeneity
-
Van Camp G, Willems PJ, Smith RJ: Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet 1997, 60:758-64.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 758-764
-
-
Van Camp, G.1
Willems, P.J.2
Smith, R.J.3
-
3
-
-
32044471289
-
From deafness genes to hearing mechanisms: Harmony and counterpoint
-
Petit C: From deafness genes to hearing mechanisms: harmony and counterpoint. Trends Mol Med 2006, 12:57-64.
-
(2006)
Trends Mol Med
, vol.12
, pp. 57-64
-
-
Petit, C.1
-
4
-
-
0003853004
-
The Hereditary Hearing Loss Homepage
-
Van Camp G, Smith RJH: The Hereditary Hearing Loss Homepage. 2005 [http://dnalab-www.uia.ac.be/dnalab/hhh].
-
(2005)
-
-
Van Camp, G.1
Smith, R.J.H.2
-
5
-
-
7144228618
-
Identification of mutations in the connexin 26 gene that cause autosomalrecessive nonsyndromic hearing loss
-
Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srisailapathy CR, Rosengren SS, Markham AF, Mueller RF, Lench NJ, Van Camp G, Smith RJ, Sheffield VC: Identification of mutations in the connexin 26 gene that cause autosomalrecessive nonsyndromic hearing loss. Hum Mutat 1998, 11:387-94.
-
(1998)
Hum Mutat
, vol.11
, pp. 387-934
-
-
Scott, D.A.1
Kraft, M.L.2
Carmi, R.3
Ramesh, A.4
Elbedour, K.5
Yairi, Y.6
Srisailapathy, C.R.7
Rosengren, S.S.8
Markham, A.F.9
Mueller, R.F.10
Lench, N.J.11
Van Camp, G.12
Smith, R.J.13
Sheffield, V.C.14
-
6
-
-
0036247733
-
Connexin mutations in hearing loss, dermatological and neurological disorders
-
Rabionet R, Lopez-Bigas N, Arbones ML, Estivill X: Connexin mutations in hearing loss, dermatological and neurological disorders. Trends Mol Med 2002, 8:205-12.
-
(2002)
Trends Mol Med
, vol.8
, pp. 205-212
-
-
Rabionet, R.1
Lopez-Bigas, N.2
Arbones, M.L.3
Estivill, X.4
-
8
-
-
0042279249
-
Nonsyndromic hearing loss
-
Van Laer L, Cryns K, Smith RJ, Van Camp G: Nonsyndromic hearing loss. Ear Hear 2003, 24:275-88.
-
(2003)
Ear Hear
, vol.24
, pp. 275-288
-
-
Van Laer, L.1
Cryns, K.2
Smith, R.J.3
Van Camp, G.4
-
9
-
-
2942735102
-
Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness
-
Alexandrino F, Oliveira CA, Reis FC, Maciel-Guerra AT, Sartorato EL: Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness. J Appl Genet 2004, 45:249-54.
-
(2004)
J Appl Genet
, vol.45
, pp. 249-254
-
-
Alexandrino, F.1
Oliveira, C.A.2
Reis, F.C.3
Maciel-Guerra, A.T.4
Sartorato, E.L.5
-
10
-
-
0037677643
-
Multiple mutations of MYOIA, a cochlear-expressed gene, in sensorineural hearing loss
-
Donaudy F, Ferrara A, Esposito L, Hertzano R, Ben-David O, Bell RE, Melchionda S, Zelante L, Avraham KB, Gasparini P: Multiple mutations of MYOIA, a cochlear-expressed gene, in sensorineural hearing loss. Am J Hum Genet 2003, 72:1571-7.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1571-1577
-
-
Donaudy, F.1
Ferrara, A.2
Esposito, L.3
Hertzano, R.4
Ben-David, O.5
Bell, R.E.6
Melchionda, S.7
Zelante, L.8
Avraham, K.B.9
Gasparini, P.10
-
11
-
-
0036665186
-
Non-syndromic autosomal-dominant deafness
-
Petersen MB: Non-syndromic autosomal-dominant deafness. Clin Genet 2002, 62:1-13.
-
(2002)
Clin Genet
, vol.62
, pp. 1-13
-
-
Petersen, M.B.1
-
12
-
-
3042855210
-
UniGene: A unified view of the transcriptome
-
Bethesda (MD): National Center for Biotechnology Information
-
Pontius JU, Wagner L, Schuler GD: UniGene: a unified view of the transcriptome. The NCBI Handbook. Bethesda (MD): National Center for Biotechnology Information 2003.
-
(2003)
The NCBI Handbook
-
-
Pontius, J.U.1
Wagner, L.2
Schuler, G.D.3
-
13
-
-
0012593415
-
Table of gene expression in the developing ear
-
Holme RH, Bussoli TJ, Steel KP: Table of gene expression in the developing ear. 2003 [http://www.ihr.mrc.ac.uk/Hereditary/genetable].
-
(2003)
-
-
Holme, R.H.1
Bussoli, T.J.2
Steel, K.P.3
-
15
-
-
10744224197
-
Development of human protein reference database as an initial platform for approaching systems biology in humans
-
Peri S, Navarro JD, Amanchy R, Kristiansen TZ, Jonnalagadda CK, Surendranath V, Niranjan V, Muthusamy B, Gandhi TK, Gronborg M, Ibarrola N, Deshpande N, Shanker K, Shivashankar HN, Rashmi BP, Ramya MA, Zhao Z, Chandrika KN, Padma N, Harsha HC, Yatish AJ, Kavitha MP, Menezes M, Choudhury DR, Suresh S, Ghosh N, Saravana R, Chandran S, Krishna S, Joy M, Anand SK, Madavan V, Joseph A, Wong GW, Schiemann WP, Constantinescu SN, Huang L, Khosravi-Far R, Steen H, Tewari M, Ghaffari S, Blobe GC, Dang CV, Garcia JG, Pevsner J, Jensen ON, Roepstorff P, Deshpande KS, Chinnaiyan AM, Hamosh A, Chakravarti A, Pandey A: Development of human protein reference database as an initial platform for approaching systems biology in humans. Genome Res 2003, 13:2363-2371 [http://www.hprd.org/].
-
(2003)
Genome Res
, vol.13
, pp. 2363-2371
-
-
Peri, S.1
Navarro, J.D.2
Amanchy, R.3
Kristiansen, T.Z.4
Jonnalagadda, C.K.5
Surendranath, V.6
Niranjan, V.7
Muthusamy, B.8
Gandhi, T.K.9
Gronborg, M.10
Ibarrola, N.11
Deshpande, N.12
Shanker, K.13
Shivashankar, H.N.14
Rashmi, B.P.15
Ramya, M.A.16
Zhao, Z.17
Chandrika, K.N.18
Padma, N.19
Harsha, H.C.20
Yatish, A.J.21
Kavitha, M.P.22
Menezes, M.23
Choudhury, D.R.24
Suresh, S.25
Ghosh, N.26
Saravana, R.27
Chandran, S.28
Krishna, S.29
Joy, M.30
Anand, S.K.31
Madavan, V.32
Joseph, A.33
Wong, G.W.34
Schiemann, W.P.35
Constantinescu, S.N.36
Huang, L.37
Khosravi-Far, R.38
Steen, H.39
Tewari, M.40
Ghaffari, S.41
Blobe, G.C.42
Dang, C.V.43
Garcia, J.G.44
Pevsner, J.45
Jensen, O.N.46
Roepstorff, P.47
Deshpande, K.S.48
Chinnaiyan, A.M.49
Hamosh, A.50
Chakravarti, A.51
Pandey, A.52
more..
-
16
-
-
13544276525
-
Interactions in the network of Usher syndrome type 1 proteins
-
Adato A, Michel V, Kikkawa Y, Reiners J, Alagramam KN, Weil D, Yonekawa H, Wolfrum U, El-Amraoui A, Petit C: Interactions in the network of Usher syndrome type 1 proteins. Hum Mol Genet 2005, 14:347-56.
-
(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
Yonekawa, H.7
Wolfrum, U.8
El-Amraoui, A.9
Petit, C.10
-
17
-
-
0029202639
-
Clinical and molecular genetics of Usher syndrome
-
Kimberling WJ, Moller C: Clinical and molecular genetics of Usher syndrome. J Am Acad Audiol 1995, 6:63-72.
-
(1995)
J Am Acad Audiol
, vol.6
, pp. 63-72
-
-
Kimberling, W.J.1
Moller, C.2
-
18
-
-
25644453563
-
GeneRetriever: Software to extract all genes and transcripts in between two genetic markers to assist design of human custom microarrays
-
Clément-Ziza M, Brody Y, Munnich A, Lyonnet S, Besmond C: GeneRetriever: software to extract all genes and transcripts in between two genetic markers to assist design of human custom microarrays. BioTechniques 2005, 39:180-184.
-
(2005)
BioTechniques
, vol.39
, pp. 180-184
-
-
Clément-Ziza, M.1
Brody, Y.2
Munnich, A.3
Lyonnet, S.4
Besmond, C.5
-
19
-
-
0028169393
-
Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening
-
Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR, Morton CC: Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Genomics 1994, 23:42-50.
-
(1994)
Genomics
, vol.23
, pp. 42-50
-
-
Robertson, N.G.1
Khetarpal, U.2
Gutierrez-Espeleta, G.A.3
Bieber, F.R.4
Morton, C.C.5
-
20
-
-
0031965583
-
Oncomodulin is expressed exclusively by outer hair cells in the organ of Corti
-
Sakaguchi N, Henzel MT, Thalmann I, Thalmann R, SCHULTE BA: Oncomodulin is expressed exclusively by outer hair cells in the organ of Corti. J Histochem Cytochem 1998, 46:29-40.
-
(1998)
J Histochem Cytochem
, vol.46
, pp. 29-40
-
-
Sakaguchi, N.1
Henzel, M.T.2
Thalmann, I.3
Thalmann, R.4
Schulte, B.A.5
-
21
-
-
2342455222
-
Human airway trypsin-like protease induces PAR-2-mediated IL-8 release in psoriasis vulgaris
-
Iwakiri K, Ghazizadeh M, Jin E, Fujiwara M, Takemura T, Takezaki S, Kawana S, Yasuoka S, Kawanami O: Human airway trypsin-like protease induces PAR-2-mediated IL-8 release in psoriasis vulgaris. J Invest Dermatol 2004, 122:937-44.
-
(2004)
J Invest Dermatol
, vol.122
, pp. 937-944
-
-
Iwakiri, K.1
Ghazizadeh, M.2
Jin, E.3
Fujiwara, M.4
Takemura, T.5
Takezaki, S.6
Kawana, S.7
Yasuoka, S.8
Kawanami, O.9
-
22
-
-
3543129535
-
Age-dependent modifications of expression level of VEGF and its receptors in the inner ear
-
Picciotti P, Torsello A, Wolf FL, Paludetti G, Gaetani E, Pola R: Age-dependent modifications of expression level of VEGF and its receptors in the inner ear. Exp Gerontol 2004, 39:1253-8.
-
(2004)
Exp Gerontol
, vol.39
, pp. 1253-1258
-
-
Picciotti, P.1
Torsello, A.2
Wolf, F.L.3
Paludetti, G.4
Gaetani, E.5
Pola, R.6
-
23
-
-
0034669030
-
Essential role of BETA2/NeuroD1 in development of the vestibular and auditory systems
-
Liu M, Pereira FA, Price SD, Chu MJ, Shope C, Himes D, Eatock RA, Brownell WE, Lysakowski A, Tsai MJ: Essential role of BETA2/NeuroD1 in development of the vestibular and auditory systems. Genes Dev 2000, 14:2839-2854.
-
(2000)
Genes Dev
, vol.14
, pp. 2839-2854
-
-
Liu, M.1
Pereira, F.A.2
Price, S.D.3
Chu, M.J.4
Shope, C.5
Himes, D.6
Eatock, R.A.7
Brownell, W.E.8
Lysakowski, A.9
Tsai, M.J.10
-
24
-
-
27644583723
-
Distinctions in the specificity of E2F function revealed by gene expression signatures
-
Black EP, Hallstrom T, Dressman HK, West M, Nevins JR: Distinctions in the specificity of E2F function revealed by gene expression signatures. Proc Natl Acad Sci U S A 2005, 102:15948-53.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 15948-15953
-
-
Black, E.P.1
Hallstrom, T.2
Dressman, H.K.3
West, M.4
Nevins, J.R.5
-
25
-
-
0036768286
-
Behavioral audiograms of homozygous med(J) mutant mice with sodium channel deficiency and unaffected controls
-
Koay G, Heffner R, Heffner H: Behavioral audiograms of homozygous med(J) mutant mice with sodium channel deficiency and unaffected controls. Hearing Res 2002, 171:111-118.
-
(2002)
Hearing Res
, vol.171
, pp. 111-118
-
-
Koay, G.1
Heffner, R.2
Heffner, H.3
-
26
-
-
0038239926
-
Physiological functions of plasma membrane and intracellular Ca2+ pumps revealed by analysis of null mutants
-
Shull GE, Okunade G, Liu LH, Kozel P, Periasamy M, Lorenz JN, Prasad V: Physiological functions of plasma membrane and intracellular Ca2+ pumps revealed by analysis of null mutants. Ann N Y Acad Sci 2003, 986:453-60.
-
(2003)
Ann N Y Acad Sci
, vol.986
, pp. 453-460
-
-
Shull, G.E.1
Okunade, G.2
Liu, L.H.3
Kozel, P.4
Periasamy, M.5
Lorenz, J.N.6
Prasad, V.7
-
27
-
-
0037194216
-
Complementary and layered expression of Ephs and ephrins in developing mouse inner ear
-
Pickles JO, Claxton C, Van Heumen WR: Complementary and layered expression of Ephs and ephrins in developing mouse inner ear. J Comp Neurol 2002, 449:207-16.
-
(2002)
J Comp Neurol
, vol.449
, pp. 207-216
-
-
Pickles, J.O.1
Claxton, C.2
Van Heumen, W.R.3
-
28
-
-
10744227098
-
Sixl controls patterning of the mouse otic vesicle
-
Ozaki H, Nakamura K, Funahashi J, Ikeda K, Yamada G, Tokano H, Okamura HO, Kitamura K, Muto S, Kotaki H, Sudo K, Horai R, Iwakura Y, Kawakami K: Sixl controls patterning of the mouse otic vesicle. Development 2004, 131:551-62.
-
(2004)
Development
, vol.131
, pp. 551-562
-
-
Ozaki, H.1
Nakamura, K.2
Funahashi, J.3
Ikeda, K.4
Yamada, G.5
Tokano, H.6
Okamura, H.O.7
Kitamura, K.8
Muto, S.9
Kotaki, H.10
Sudo, K.11
Horai, R.12
Iwakura, Y.13
Kawakami, K.14
-
29
-
-
0034694912
-
Two novel genes, human neugrin and mouse m-neugrin, are upregulated with neuronal differentiation in neuroblastoma cells
-
Ishigaki S, Niwa J, Yoshihara T, Mitsuma N, Doyu M, Sobue G: Two novel genes, human neugrin and mouse m-neugrin, are upregulated with neuronal differentiation in neuroblastoma cells. Biochem Biophys Res Commun 2000, 279:526-33.
-
(2000)
Biochem Biophys Res Commun
, vol.279
, pp. 526-533
-
-
Ishigaki, S.1
Niwa, J.2
Yoshihara, T.3
Mitsuma, N.4
Doyu, M.5
Sobue, G.6
-
30
-
-
11844283949
-
The transcription factor gene Nfib is essential for both lung maturation and brain development
-
Steele-Perkins G, Plachez C, Butz KG, Yang G, Bachurski CJ, Kinsman SL, Litwack ED, Richards LJ, Gronostajski RM: The transcription factor gene Nfib is essential for both lung maturation and brain development Mol Cell Biol 2005, 25:685-98.
-
(2005)
Mol Cell Biol
, vol.25
, pp. 685-698
-
-
Steele-Perkins, G.1
Plachez, C.2
Butz, K.G.3
Yang, G.4
Bachurski, C.J.5
Kinsman, S.L.6
Litwack, E.D.7
Richards, L.J.8
Gronostajski, R.M.9
-
31
-
-
31444438799
-
Loss of Pnn expression attenuates expression levels of SR family splicing factors and modulates alternative pre-mRNA splicing in vivo
-
Chiu Y, Ouyang P: Loss of Pnn expression attenuates expression levels of SR family splicing factors and modulates alternative pre-mRNA splicing in vivo. Biochem giophys Res Commun 2006, 341:663-71.
-
(2006)
Biochem Biophys Res Commun
, vol.341
, pp. 663-671
-
-
Chiu, Y.1
Ouyang, P.2
-
32
-
-
0033051643
-
Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness
-
Skvorak AB, Weng Z, Yee AJ, Robertson NG, Morton CC: Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness. Hum Mol Genet 1999, 8:439-52.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 439-452
-
-
Skvorak, A.B.1
Weng, Z.2
Yee, A.J.3
Robertson, N.G.4
Morton, C.C.5
-
34
-
-
28544450594
-
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome
-
Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H: A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. J Mol Med 2005, 83:1025-32.
-
(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
Heister, J.G.7
Erdol, H.8
Cremers, F.P.9
Cremers, C.W.10
Brunner, H.G.11
Kremer, H.12
-
35
-
-
29644447271
-
Scaffold protein harmonin (USHIC) 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, Overlack N, Roepman R, Knipper M, Kremer H, Wolfrum U: Scaffold protein harmonin (USHIC) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet 2005, 14:3933-43.
-
(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
Overlack, N.7
Roepman, R.8
Knipper, M.9
Kremer, H.10
Wolfrum, U.11
-
36
-
-
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 FF, Märker T, Aller E, Hoefsloot LH, Cremers CW, Cremers FP, Wolfrum U, Knipper M, Roepman R, Kremer H: 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 2006, 15:751-65.
-
(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.6
Märker, T.7
Aller, E.8
Hoefsloot, L.H.9
Cremers, C.W.10
Cremers, F.P.11
Wolfrum, U.12
Knipper, M.13
Roepman, R.14
Kremer, H.15
|