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Items: 1 to 20 of 97

1.

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).

Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED.

Nat Genet. 1997 Dec;17(4):411-22.

PMID:
9398842
2.

The Pendred syndrome gene encodes a chloride-iodide transport protein.

Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP.

Nat Genet. 1999 Apr;21(4):440-3.

PMID:
10192399
3.

Molecular analysis of the PDS gene in Pendred syndrome.

Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman4 A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC.

Hum Mol Genet. 1998 Jul;7(7):1105-12.

PMID:
9618167
4.

[Pendred syndrome among patients with hypothyroidism: genetic diagnosis, phenotypic variability and occurrence of phenocopies].

Banghová K, Al TE, Novotná D, Zapletalová J, Hníková O, Cáp J, Klabochová J, Kúseková M, Lebl J.

Cas Lek Cesk. 2008;147(12):616-22. Czech.

PMID:
19235486
5.

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

Scott DA, Wang R, Kreman TM, Andrews M, McDonald JM, Bishop JR, Smith RJ, Karniski LP, Sheffield VC.

Hum Mol Genet. 2000 Jul 1;9(11):1709-15.

PMID:
10861298
6.

Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.

Everett LA, Belyantseva IA, Noben-Trauth K, Cantos R, Chen A, Thakkar SI, Hoogstraten-Miller SL, Kachar B, Wu DK, Green ED.

Hum Mol Genet. 2001 Jan 15;10(2):153-61.

PMID:
11152663
7.

Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.

Masmoudi S, Charfedine I, Hmani M, Grati M, Ghorbel AM, Elgaied-Boulila A, Drira M, Hardelin JP, Ayadi H.

Am J Med Genet. 2000 Jan 3;90(1):38-44.

PMID:
10602116
8.

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

López-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbonés ML, Gasparini P, Estivill X.

Hum Mutat. 2002 Jul;20(1):77-8.

PMID:
12112665
9.

Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family.

Waldegger S, Moschen I, Ramirez A, Smith RJ, Ayadi H, Lang F, Kubisch C.

Genomics. 2001 Feb 15;72(1):43-50. Erratum in: Genomics 2001 Sep;77(1-2):115.

PMID:
11247665
10.

Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.

Fugazzola L, Cerutti N, Mannavola D, Crino A, Cassio A, Gasparoni P, Vannucchi G, Beck-Peccoz P.

Pediatr Res. 2002 Apr;51(4):479-84.

PMID:
11919333
11.

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
12.

Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations.

Banghova K, Al Taji E, Cinek O, Novotna D, Pourova R, Zapletalova J, Hnikova O, Lebl J.

Eur J Pediatr. 2008 Jul;167(7):777-83. Epub 2007 Sep 18.

PMID:
17876604
13.

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

López-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbonés ML, Gasparini P, Estivill X.

Hum Mutat. 2001 Dec;18(6):548. Corrected and republished in: Hum Mutat. 2002 Jul;20(1):77-8.

PMID:
11748854
14.

Pendred syndrome.

Glaser B.

Pediatr Endocrinol Rev. 2003 Dec;1 Suppl 2:199-204; discussion 204. Review.

PMID:
16444159
15.

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.

Coyle B, Coffey R, Armour JA, Gausden E, Hochberg Z, Grossman A, Britton K, Pembrey M, Reardon W, Trembath R.

Nat Genet. 1996 Apr;12(4):421-3.

PMID:
8630497
16.

Two frequent missense mutations in Pendred syndrome.

Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, Smith RJ, Green ED, Van Camp G.

Hum Mol Genet. 1998 Jul;7(7):1099-104.

PMID:
9618166
17.

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC.

Hum Mol Genet. 2001 Oct 15;10(22):2509-14. Erratum in: Hum Mol Genet 2001 Dec 15;10(26):3111. Cator T [corrected to Cater T].

PMID:
11709538
18.

The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4.

Wilcox ER, Everett LA, Li XC, Lalwani AK, Green ED.

Adv Otorhinolaryngol. 2000;56:145-51. Review. No abstract available.

PMID:
10868226
19.

Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.

Lofrano-Porto A, Barra GB, Nascimento PP, Costa PG, Garcia EC, Vaz RF, Batista AR, Freitas AC, Cherulli BL, Bahmad F Jr, Figueiredo LG, Neves FA, Casulari LA.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1296-303.

20.

[Identification of two heterozygous mutations in the SLC26A4/PDS gene in a family with Pendred-syndrome].

Birkenhäger R, Knapp FB, Klenzner T, Aschendorff A, Schipper J.

Laryngorhinootologie. 2004 Dec;83(12):831-5. German.

PMID:
15611902

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