Previous Page  163 / 232 Next Page
Information
Show Menu
Previous Page 163 / 232 Next Page
Page Background

22. Van Camp G, Smith RJH. Hereditary hearing loss homepage. Available at:

http://hereditaryhearingloss.org.

Accessed July 29, 2011.

23. Pryor SP, Madeo AC, Reynolds JC, et al. SLC26A4/PDS genotype-pheno-

type correlation in hearing loss with enlargement of the vestibular

aqueduct (EVA): evidence that Pendred syndrome and non-syndromic

EVA are distinct clinical and genetic entities.

J Med Genet

2005;42:

159–165.

24. Campbell C, Cucci RA, Prasad S et al. Pendred syndrome, DFNB4, and

PDS/SLC26A4: identification of eight novel mutations and possible

genotype-phenotype correlations.

Hum Mutat

2001;17:403–411.

25. Madden C, Halsted M, Meinzen-Derr J, et al. The influence of mutations

in the SLC26A4 gene on the temporal bone in a population with

enlarged vestibular aqueduct.

Arch Otolaryngol Head Neck Surg

2007;

133:162–168.

26. Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S,

Smith RJ. Transcriptional control of SLC26A4 is involved in Pendred

syndrome and nonsyndromic enlargement of vestibular aqueduct

(DFNB4).

Am J Hum Genet

2007;80:1055–1063.

27. Yang T, Gurrola JG II, Wu H, et al. Mutations of KCNJ10 together with

mutations of SLC26A4 cause digenic nonsyndromic hearing loss associ-

ated with enlarged vestibular aqueduct syndrome.

Am J Hum Genet

2009;84:651–657.

28. Murofishi T, Ouvrier RA, Parker GD, et al. Vestibular abnormalities

in CHARGE association.

Ann Otol Rhinol Laryngol

1997;106:

129–134.

29. Madden C, Halsted M, Hopkin R, Choo DI, Benton C, Greinwald JH. Tem-

poral bone abnormalities associated with hearing loss in Waardenburg

syndrome.

Laryngoscope

2003;113;2035–2041.

30. Chen A, Francis M, Ni L, et al. Phenotypic manifestations of branchio-oto-

renal syndrome.

Am J Med Genet

1995;58:365–370.

31. Valvassori GE. The large vestibular aqueduct and associated anomalies of

the ear.

Otolaryngol Clin North Am

1983;16:95–101.

32. Uwiera TK, deAlarcon A, Meinzen-Derr J, et al. Hearing loss progres-

sion and contralateral involvement in children with unilateral sensori-

neural hearing loss.

Ann Otolaryngol Head Neck Surg

2009;118:

781–785.

Laryngoscope 123: June 2013

Greinwald et al.: Unilateral Enlarged Vestibular Aqueduct

141