1
|
Kochhar A, Hildebrand MS and Smith RJ:
Clinical aspects of hereditary hearing loss. Genet Med. 9:393–408.
2007. View Article : Google Scholar : PubMed/NCBI
|
2
|
Read AP and Newton VE: Waardenburg
syndrome. J Med Genet. 34:656–665. 1997. View Article : Google Scholar : PubMed/NCBI
|
3
|
Farrer LA, Grundfast KM, Amos J, Arnos KS,
Asher JH Jr, Beighton P, Diehl SR, Fex J, Foy C, Friedman TB, et
al: Waardenburg syndrome (WS) type I is caused by defects at
multiple loci, one of which is near ALPP on chromosome 2: First
report of the WS consortium. Am J Hum Genet. 50:902–913.
1992.PubMed/NCBI
|
4
|
Liu XZ, Newton VE and Read AP: Waardenburg
syndrome type II: Phenotypic findings and diagnostic criteria. Am J
Med Genet. 55:95–100. 1995. View Article : Google Scholar : PubMed/NCBI
|
5
|
Farrer LA, Arnos KS, Asher JH Jr, Baldwin
CT, Diehl SR, Friedman TB, Greenberg J, Grundfast KM, Hoth C,
Lalwani AK, et al: Locus heterogeneity for Waardenburg syndrome is
predictive of clinical subtypes. Am J Hum Genet. 55:728–737.
1994.PubMed/NCBI
|
6
|
Pingault V, Ente D, Dastot-Le Moal F,
Goossens M, Marlin S and Bondurand N: Review and update of
mutations causing Waardenburg syndrome. Hum Mutat. 31:391–406.
2010. View Article : Google Scholar : PubMed/NCBI
|
7
|
Hoth CF, Milunsky A, Lipsky N, Sheffer R,
Clarren SK and Baldwin CT: Mutations in the paired domain of the
human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well
as Waardenburg syndrome type I (WS-I). Am J Hum Genet. 52:455–462.
1993.PubMed/NCBI
|
8
|
Bondurand N, Dastot-Le MF, Stanchina L,
Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski
L, Reardon W, et al: Deletions at the SOX10 gene locus cause
Waardenburg syndrome types 2 and 4. Am J Hum Genet. 81:1169–1185.
2007. View
Article : Google Scholar : PubMed/NCBI
|
9
|
Sánchez-Martín M, Rodríguez-García A,
Pérez-Losada J, Sagrera A, Read AP and Sánchez-García I: SLUG
(SNAI2) deletions in patients with Waardenburg disease. Hum Mol
Genet. 11:3231–3236. 2002. View Article : Google Scholar : PubMed/NCBI
|
10
|
Tassabehji M, Newton VE and Read AP:
Waardenburg syndrome type 2 caused by mutations in the human
microphthalmia (MITF) gene. Nat Genet. 8:251–255. 1994. View Article : Google Scholar : PubMed/NCBI
|
11
|
Curran K, Raible DW and Lister JA: Foxd3
controls melanophore specification in the zebrafish neural crest by
regulation of Mitf. Dev Biol. 332:408–417. 2009. View Article : Google Scholar : PubMed/NCBI
|
12
|
Takebayashi K, Chida K, Tsukamoto I, Morii
E, Munakata H, Arnheiter H, Kuroki T, Kitamura Y and Nomura S: The
recessive phenotype displayed by a dominant negative
microphthalmia-associated transcription factor mutant is a result
of impaired nucleation potential. Mol Cell Biol. 16:1203–1211.
1996. View Article : Google Scholar : PubMed/NCBI
|
13
|
Chen H, Jiang L, Xie Z, Mei L, He C, Hu Z,
Xia K and Feng Y: Novel mutations of PAX3, MITF, and SOX10 genes in
Chinese patients with type I or type II Waardenburg syndrome.
Biochem Biophys Res Commun. 397:70–74. 2010. View Article : Google Scholar : PubMed/NCBI
|
14
|
Tassabehji M, Newton VE, Liu XZ, Brady A,
Donnai D, Krajewska-Walasek M, Murday V, Norman A, Obersztyn E,
Reardon W, et al: The mutational spectrum in Waardenburg syndrome.
Hum Mol Genet. 4:2131–2137. 1995. View Article : Google Scholar : PubMed/NCBI
|
15
|
Smith SD, Kelley PM, Kenyon JB and Hoover
D: Tietz syndrome (hypopigmentation/deafness) caused by mutation of
MITF. J Med Genet. 37:446–448. 2000. View Article : Google Scholar : PubMed/NCBI
|
16
|
Yang S, Dai P, Liu X, Kang D, Zhang X,
Yang W, Zhou C, Yang S and Yuan H: Genetic and phenotypic
heterogeneity in Chinese patients with Waardenburg syndrome type
II. PLoS One. 8:e771492013. View Article : Google Scholar : PubMed/NCBI
|
17
|
Amirsalari S, Ajallouyean M, Saburi A,
Haddadi Fard A, Abed M and Ghazavi Y: Cochlear implantation
outcomes in children with Waardenburg syndrome. Eur Arch
Otorhinolaryngol. 269:2179–2183. 2012. View Article : Google Scholar
|
18
|
Kontorinis G, Lenarz T, Giourgas A,
Durisin M and Lesinski-Schiedat A: Outcomes and special
considerations of cochlear implantation in waardenburg syndrome.
Otol Neurotol. 32:951–955. 2011. View Article : Google Scholar : PubMed/NCBI
|