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Results: 1 to 20 of 25

References for PMC Articles for PubMed (Select 19998422)

1.

Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts.

Madeo AC, Manichaikul A, Reynolds JC, Sarlis NJ, Pryor SP, Shawker TH, Griffith AJ.

Arch Otolaryngol Head Neck Surg. 2009 Jul;135(7):670-6. doi: 10.1001/archoto.2009.66.

2.

Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Kim HJ, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ.

Hum Mutat. 2009 Apr;30(4):599-608. doi: 10.1002/humu.20884.

3.

Delineating the hearing loss in children with enlarged vestibular aqueduct.

Zhou G, Gopen Q, Kenna MA.

Laryngoscope. 2008 Nov;118(11):2062-6. doi: 10.1097/MLG.0b013e31818208ad.

PMID:
18665003
4.

Analysis of auditory phenotype and karyotype in 200 females with Turner syndrome.

King KA, Makishima T, Zalewski CK, Bakalov VK, Griffith AJ, Bondy CA, Brewer CC.

Ear Hear. 2007 Dec;28(6):831-41.

PMID:
17982369
5.

Clinical investigation and mechanism of air-bone gaps in large vestibular aqueduct syndrome.

Merchant SN, Nakajima HH, Halpin C, Nadol JB Jr, Lee DJ, Innis WP, Curtin H, Rosowski JJ.

Ann Otol Rhinol Laryngol. 2007 Jul;116(7):532-41.

6.

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
7.

The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct.

Madden C, Halsted M, Meinzen-Derr J, Bardo D, Boston M, Arjmand E, Nishimura C, Yang T, Benton C, Das V, Smith R, Choo D, Greinwald J.

Arch Otolaryngol Head Neck Surg. 2007 Feb;133(2):162-8. Erratum in: Arch Otolaryngol Head Neck Surg. 2007 Jun;133(6):607.

PMID:
17309986
9.

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, Sergent-Allaoui A, Houang M, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Dollfus H, Eliot MM, David A, Calais C, Drouin-Garraud V, Obstoy MF, Tran Ba Huy P, Lacombe D, Duriez F, Francannet C, Bitoun P, Petit C, Garab├ędian EN, Couderc R, Marlin S, Denoyelle F.

Eur J Hum Genet. 2006 Jun;14(6):773-9.

11.

Long-term follow-up in patients with Pendred syndrome: vestibular, auditory and other phenotypes.

Sugiura M, Sato E, Nakashima T, Sugiura J, Furuhashi A, Yoshino T, Nakayama A, Mori N, Murakami H, Naganawa S.

Eur Arch Otorhinolaryngol. 2005 Sep;262(9):737-43. Epub 2005 Mar 4.

PMID:
15747138
12.

SLC26A4/PDS genotype-phenotype 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.

Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, Yang Y, Zalewski CK, Brewer CC, Butman JA, Griffith AJ.

J Med Genet. 2005 Feb;42(2):159-65. No abstract available.

13.

Common clinical features of children with enlarged vestibular aqueduct and Mondini dysplasia.

Wu CC, Chen YS, Chen PJ, Hsu CJ.

Laryngoscope. 2005 Jan;115(1):132-7.

PMID:
15630381
14.
15.

Enlarged endolymphatic duct and sac syndrome: relationship between MR findings and genotype of mutation in Pendred syndrome gene.

Naganawa S, Koshikawa T, Fukatsu H, Ishigaki T, Sato E, Sugiura M, Yoshino T, Nakashima T.

Magn Reson Imaging. 2004 Jan;22(1):25-30.

PMID:
14972391
16.

Enlarged vestibular aqueduct syndrome in the pediatric population.

Madden C, Halsted M, Benton C, Greinwald J, Choo D.

Otol Neurotol. 2003 Jul;24(4):625-32.

PMID:
12851556
17.

Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene.

Sato E, Nakashima T, Miura Y, Furuhashi A, Nakayama A, Mori N, Murakami H, Naganawa S, Tadokoro M.

Eur J Endocrinol. 2001 Dec;145(6):697-703.

18.

Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.

Reardon W, OMahoney CF, Trembath R, Jan H, Phelps PD.

QJM. 2000 Feb;93(2):99-104.

19.

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.

Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ.

Hum Genet. 1999 Feb;104(2):188-92.

PMID:
10190331
20.

A mutation in PDS causes non-syndromic recessive deafness.

Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER.

Nat Genet. 1998 Mar;18(3):215-7. No abstract available.

PMID:
9500541
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