277 related articles for article (PubMed ID: 19235486)
41. High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein.
Fugazzola L; Cirello V; Dossena S; Rodighiero S; Muzza M; Castorina P; Lalatta F; Ambrosetti U; Beck-Peccoz P; Bottà G; Paulmichl M
Eur J Endocrinol; 2007 Sep; 157(3):331-8. PubMed ID: 17766716
[TBL] [Abstract][Full Text] [Related]
42. Pendred syndrome in Tunisia.
Charfeddine I; Mnejja M; Hammami B; Chakroun A; Masmoudi S; Ayadi H; Ghorbel A
Eur Ann Otorhinolaryngol Head Neck Dis; 2010 Mar; 127(1):7-10. PubMed ID: 20822748
[TBL] [Abstract][Full Text] [Related]
43. Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.
Chow YP; Abdul Murad NA; Mohd Rani Z; Khoo JS; Chong PS; Wu LL; Jamal R
Orphanet J Rare Dis; 2017 Feb; 12(1):40. PubMed ID: 28222800
[TBL] [Abstract][Full Text] [Related]
44. 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. PubMed ID: 10700480
[TBL] [Abstract][Full Text] [Related]
45. 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. PubMed ID: 9618166
[TBL] [Abstract][Full Text] [Related]
46. 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. PubMed ID: 8630497
[TBL] [Abstract][Full Text] [Related]
47. Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome.
Sakurai K; Hata M; Hishinuma A; Ushijima R; Okada A; Taeda Y; Arihara Z; Fukazawa H; Takahashi K
Endocr J; 2013; 60(6):805-11. PubMed ID: 23459462
[TBL] [Abstract][Full Text] [Related]
48. Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.
Dossena S; Vezzoli V; Cerutti N; Bazzini C; Tosco M; Sironi C; Rodighiero S; Meyer G; Fascio U; Fürst J; Ritter M; Fugazzola L; Persani L; Zorowka P; Storelli C; Beck-Peccoz P; Bottà G; Paulmichl M
Cell Physiol Biochem; 2006; 17(5-6):245-56. PubMed ID: 16791000
[TBL] [Abstract][Full Text] [Related]
49. Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene.
Banghova K; Cinek O; Al Taji E; Zapletalova J; Vidura R; Lebl J
J Pediatr Endocrinol Metab; 2008 Dec; 21(12):1179-84. PubMed ID: 19189692
[TBL] [Abstract][Full Text] [Related]
50. Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.
Soh LM; Druce M; Grossman AB; Differ AM; Rajput L; Bitner-Glindzicz M; Korbonits M
Eur J Endocrinol; 2015 Feb; 172(2):217-26. PubMed ID: 25394566
[TBL] [Abstract][Full Text] [Related]
51. Pendred syndrome.
Lado Abeal J
Expert Rev Endocrinol Metab; 2008 Sep; 3(5):635-643. PubMed ID: 30290408
[TBL] [Abstract][Full Text] [Related]
52. A novel mutation in the pendrin gene associated with Pendred's syndrome.
Bogazzi F; Raggi F; Ultimieri F; Campomori A; Cosci C; Berrettini S; Neri E; La Rocca R; Ronca G; Martino E; Bartalena L
Clin Endocrinol (Oxf); 2000 Mar; 52(3):279-85. PubMed ID: 10718825
[TBL] [Abstract][Full Text] [Related]
53. Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues.
Bidart JM; Mian C; Lazar V; Russo D; Filetti S; Caillou B; Schlumberger M
J Clin Endocrinol Metab; 2000 May; 85(5):2028-33. PubMed ID: 10843192
[TBL] [Abstract][Full Text] [Related]
54. 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. PubMed ID: 11748854
[TBL] [Abstract][Full Text] [Related]
55. [Phenotypic evaluation of patients with Pendred syndrome].
Maciaszczyk K; Pniewska-Siark B; Gajewicz W; Stefańczyk L; Durko T; Lewiński A; Pajor A
Otolaryngol Pol; 2008; 62(6):740-6. PubMed ID: 19205523
[TBL] [Abstract][Full Text] [Related]
56. 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. PubMed ID: 12112665
[TBL] [Abstract][Full Text] [Related]
57. 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. PubMed ID: 10192399
[TBL] [Abstract][Full Text] [Related]
58. Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct.
Iwasaki S; Tsukamoto K; Usami S; Misawa K; Mizuta K; Mineta H
J Hum Genet; 2006; 51(9):805-810. PubMed ID: 16924389
[TBL] [Abstract][Full Text] [Related]
59. A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome.
Huang CJ; Lei TH; Chang WL; Tu TY; Shiao AS; Chiu CY; Jap TS
Int J Pediatr Otorhinolaryngol; 2013 Sep; 77(9):1495-9. PubMed ID: 23838540
[TBL] [Abstract][Full Text] [Related]
60.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
