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     Background

     EYA1 Mutations

        Isoform A

        Isoform B

        Isoform C

     SIX1 Mutations

     References

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A-F      G-L      M-R      S-Z

A

Abe S, Usami S, Hoover DM, Cohn E, Shinkawa H, Kimberling WJ. Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene.  Am J Med Genet. 1999 Feb 12;92(4):322-8. [PubMed]

Abs R, Verhelst J, Schoofs E, De Somer E.  Hyperfunctioning metastatic follicular thyroid carcinoma in Pendred's syndrome.  Cancer. 1991 Apr 15;67(8):2191-3. [PubMed]

Adato A, Raskin L, Petit C, Bonne-Tamir B.  Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.  Eur J Hum Genet. 2000 Jun;8(6):437-42.  [PubMed]

al-Jaberi TM, Hussein AD, Heis HA.  Management of goitre in Pendred's syndrome.  Br J Surg 1994;81(10):1511. [PubMed]

Andersen PE.  Radiology of Pendred's syndrome.  Adv Otorhinolaryngol, 1974;21:9-18. [PubMed]

Antonarakis S and the Nomenclature Working Group.  Recommendations for a Nomenclature system for human gene mutations.  Human Mutation. 1998;11:1-3. [PubMed]

B

Bargman GJ, Gardner LL.  Deafness, hypothyroidism and Pendred's syndrome.  Pediatrics 1967;40(6):1063-4. [PubMed]

Batsakis JG and Nishiyama RH.  Deafness with sporadic goiter:  Pendred's syndrome.  Arch Otolaryngol 1962;76:401-6. [PubMed]

Bax GM.  Typical and atypical cases of Pendred's syndrome in one family.  Acta Endocrinol (Copenh). 1966 Oct;53(2):264-70.  [PubMed]

Bergstrom L.  Pendred's syndrome with atypical features.  Ann Otol Rhinol Layrngol, 1980 Mar-Apr;89(2 Pt 1):135-9. [PubMed]

Bidart JM, Lacroix L, Evain-Brion D, Caillou B, Lazar V, Frydman R, Bellet D, Filetti S, Schlumberger M.  Expression of Na+/I- symporter and Pendred syndrome genes in trophoblast cells.  J Clin Endocrinol Metab. 2000 Nov;85(11):4367-72. [PubMed]

Bidart JM, Mian C, Lazar V, Russo D, Filetti S, Caillou B, Schlumberger M.  Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues.  J Clin Endocrinol Metab. 2000 May;85(5):2028-33. [PubMed]

Billerbeck AE, Cavaliere H, Goldberg AC, Kalil J, Medeiros-Neto G.  Clinical and molecular genetics studies in Pendred's syndrome.  Thyroid. 1994 Fall;4(3):279-84. [PubMed]

Borck G, Roth C, Martine U, Wildhardt G, Pohlenz J.  Mutations in the PDS Gene in German Families with Pendred's Syndrome:  V138F Is a Founder Mutation.  J Clin Endocrinol Metab.  2003 88(6):2916-2921. [PubMed]

Bogazzi F, Bartalena L, Raggi F, Ultimieri F, Martino E.  Pendrin does not increase sulfate uptake in mammalian COS-7 cells.  J Endocrinol Invest. 2000;23(3):170-2. [PubMed]

Bogazzi F, Raggi F, Ultimeieri F, Campomori A, Cosci C, Berrettini S, Neri E, La Rocca R, Ronca G, Martino E, Bartalena L.  A novel mutation in the pendrin gene associated with Pendred's syndrome.  Clin Endocrinol (Oxf). 2000 Mar;52(3):279-85. [PubMed]

Brain WR.  Heredity in simple goiter.  QJM. 1927;20:303-19.  [PubMed]

Burrow GN, Spaulding SW, Alexander NM, Bower BF.  Normal peroxidase activity in Pendred's syndrome.  J Clin Endocrinol Metab. 1973 Mar;36(3):522-30. [PubMed]

C

Caksen H, Kurtoglu S, Yuksel S, Ciftci A, Kendirci M.  Do not overlook Pendred's syndrome in children with sensorineural hearing loss.  Ear Nose Throat J. 2001 Oct;80(10):760.  [PubMed]

Camargo R, Limbert E, Gillam M, Henriques MM, Fernandes C, Catarino AL, Soares J, Alves VA, Kopp P, Medeiros-Neto G.  Aggressive metastatic follicular thyroid carcinoma with anaplastic transformation arising from a long-standing goiter in a patient with Pendred's syndrome.  Thyroid. 2001 Oct;11(10):981-8. [PubMed]

Campbell C,  Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ.  Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.  Hum Mutat 2001;17(5):403-11. [PubMed]

Caksen H, Kurtoglu S, Yuksel S, Ciftci A, Kendirci M.  Do not overlook Pendred's syndrome in children with sensorineural hearing loss.  Ear Nose Throat J. 2001;80(10):760. [PubMed]

Cave WT Jr, Dunn JT.  Studies on the thyroidal defect in an atypical form of Pendred's syndrome.  J Clin Endocrionol Metab. 1975 Sep;41(3):590-9. [PubMed]

Coakley JC, Keir EH, Connelly JF.  The association of thyroid dyshormonogenesis and deafness (Pendred syndrome):  experience of the Victorian neonatal thyroid screening programme.  J Paediatr Child Health.  1992;28:398-401.  [PubMed]

Coucke PJ, Van Hauwe P, Everett LA, Demirhan O, Kabakkaya Y, Dietrich NL, Smith RJ, Coyle E, Reardon W, Trembath R, Willems PJ, Green ED, Van Camp G.  Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.  J Med Genet. 1999 Jun;36(6):475-7. [PubMed]

Courtmans I, Mancilla V, Ligny C, HIlbert P, Mansbach AL, Van Maldergem L.  Clinical findings and PDS mutations in 15 patients with hearing loss and dilation of the vestibular aqueduct.  J Laryngol Otol.  2007 Apr;121(4): 312-7

Coyle B, Coffey R, Armour JA, Gausden E, Hochberg Z, Grossman A, Britton K, Pembrey M, Reardon W, Trembath R.  Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nat Genet 1996;12(4):421-3. [PubMed]

Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC.  Molecular analysis of the PDS gene in Pendred syndrome.  Hum Mol Genet. 1998 Jul;7(7):1105-12. [PubMed]

Cremers CW, Admiraal RJ, Huygen PL, Bolder C, Everett LA, Joosten FB, Green ED, van Camp G, Otten BJ.  Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome.  Int J Pediatr Otorhinolaryngol. 1998 Oct 2;45(2):113-23. [PubMed]

Cremers WR, Bolder C, Admiraal RJ, Everett LA, Joosten FB, van Hauwe P, Green ED, Otten BJ.  Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome.  Arch Otolaryngol Head Neck Surg. 1998 May;124(5):501-5. [PubMed]

D

Das VK. Pendred's syndrome with episodic vertigo, tinnitus and vomiting and normal bithermal caloric responses.  J Laryngol Otol 1987;101(7):721-2. [PubMed]

Della Bruna M, Mastro AA, Lonardo F, Ametrano O, Della Monica M, D'Avanzo MG, Bianco A, Ventruto V.  Two sibs affected by Pendred's syndrome in a family with recurrent goiter.  Minerva Endocrinol. 1987 Jan-Mar;12(1):29-32. [PubMed]

den Dunnen JT and Antonarakis SE.  Nomenclature for the description of sequence variations.  Hum Genet 2001;109(1):121-4. [PubMed]

Desai KB, Mehta MN, Patel MC, Ramanna L, Ganatra RD.  Thyroidal iodoproteins in Pendred's syndrome. J Endocrinol 1974;63(2):409-10.  [PubMed]

E

Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED.  Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).  Nat Genet 1997;17(4):411-22. [PubMed]

Everett LA, Morsli H, Wu DK, Green ED.  Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear.  Proc Natl Acad Sci USA. 1999 Aug 17;96(17):9727-32. [PubMed]

Everett LA, Belyantseva IA, Noben-Trauth K, Cantos R, Chen A, Thakkar SI, Hoogstraten-Miller SL, Kachar B, Wu DK, Green ED.  Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.  Hum Mol Genet. 2001 Jan 15;10(2):153-61.  [PubMed]

F

Fitoz S, Sennaroglu L, Incesulu A, Cengiz FB, Koc Y, Tekin M.  SLC26A4 mutations are associated with a specific inner ear malformation.  International Journal of Pediatric Otorhinolaryngology  2007. 71:479-486 [PubMed]

 

Fraser GR, Morgans ME, Trotter WR.  The syndrome of sporadic goiter and congenital deafness. QJM 1960;29:279-295. [PubMed]

Fraser GR.  Association of congenital deafness with goiter (Pendred's syndrome).  Annals of Human Genetics 1965;28:201-48.  [PubMed]

Friis J.  The perchlorate discharge test with and without supplement of potassium iodide.  J Endocrinol Invest. 1987;10(6):581-4. [PubMed]

Friis J, Johnsen T, Feldt-Rasmussen U, Bech K, Friis T.  Thyroid function in patients with Pendred's syndrome.  J Endocrinol Invest 1988;11(2):97-101. [PubMed]

Fugazzola L, Mannavola D, Cerutti N, Maghnie M, Pagella F, Bianchi P, Weber G, Persani L, Beck-Peccoz P.  Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome.  J Clin Endocrinol Metab. 2000 Jul;85(7):2469-75. [PubMed]

Fugazzola L, Cerutti N, Mannavola D, Vannucchi G, Beck-PeccozP.  The role of pendrin in iodide regulation.  Exp Clin Endocrinol Diabetes. 2001;109(1):18-22. [PubMed]

Fugazzola L, Cerutti N, Mannavola D, Crinó A, Cassio A, Gasparoni P, Vannucchi G, Beck-Peccoz P.  Differential diagnosis between Pendred  and Pseudo-Pendred syndromes:  Clinical, radiologic, and molecular studies.  Pediatric Research, 2002 Apr; 51(4):479-484. [PubMed]

G

Gausden E, Armour JA, Coyle B, Coffey R, Hochberg Z, Pembrey M, Britton KE, Grossman A, Reardon W, Trembath R.  Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome.  Clin Endocrinol (Oxf). 1996 Apr;44(4):441-6. [PubMed]

Gausden E, Coyle B, Armour JA, Coffey R, Grossman A, Fraser GR, Winter RM, Pembrey ME, Kendall-Taylor P, Stephens D, Luxon LM, Phelps PD, Reardon W, Trembath R.  Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.  J Med Genet 1997;34(2):126-9. [PubMed]

Gill H, Michaels L, Phelps PD, Reardon W.  Histopathological findings suggest the diagnosis in an atypical case of Pendred syndrome.  Clin Otolaryngol. 1999 Dec;24(6):523-6. [PubMed]

Gillam MP, Bartolone L, Kopp P, Bevenga S.  Molecular Analysis of the PDS Gene in a Nonconsanguineous Sicilian Family with Pendred's Syndrome.  Thyroid.  2005 15; 734-741. [PubMed]

Gomez-Pan A, Evered DC, Hall R.  Pituitary-thyroid function in Pendred's syndrome.  Br Med J. 1974 Apr 20;2(911):152-3. [PubMed]

Gonzalez Trevino O, Karamanoglu Arseven O, Ceballos CJ, Vives VI, Ramirez RC, Gomez VV, Medeiros-Neto G, Kopp P.  Clinical and molecular analysis of three Mexican families with Pendred's syndrome.  Eur J Endocrinol. 2001 Mar;120(2):137-41. [PubMed]

H

Hu H, Wu L, Feng Y, Pan Q, Long Z, Li J, Dai H, Xia K, Liang D, Niikawa N, Xia J.  Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese:  a unique SLC26A4 mutation spectrum.  J Hum Genet.  2007 52:492-497

Hvidberg-Hansen, J and Jorgensen MB.  The inner ear in Pendred's syndrome.  Acta Otolaryngol, 1968 Jul-Aug;66(1):129-35. [PubMed]

I

Illum P, Kiaer Hw, Hvidberg-Hansen J, Sondergaard G.  Fifteen cases of Pendred's syndrome.  Congenital deafness and sporadic goiter. Arch Otolaryngol, 1972 Oct;96(4):297-304.  [PubMed]

Illum P.  Thyroid carcinoma in Pendred's syndrome.  J Laryngol Otol. 1978 May;92(5):435-9. [PubMed]

Iwasaki S, Usami S, Abe S, Isoda H, Watanabe T, Hoshino T.  Long-term audiological feature in Pendred syndrome caused by PDS mutation.  Arch Otolaryngol Head Neck Surg 2001 Jun;127(6):705-8. [PubMed]

Ishinaga H, Shimizu T, Yuta A, Tsukamoto K, Usami S, Majima Y.  Pendred's syndrome with goiter and enlarged vestibular aqueducts diagnosed by PDS gene mutation.  Head Neck 2002;24(7):185-90.  [PubMed]

Iwasaki S, Tsukamoto K, Usami S, Misawa K, Mizuta K, Mineta H.  Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct.  J Hum Genet.  2006 51:805-810. [PubMed]

J

Jensen J.  Tomography of the inner ear in deaf children.  Radiological demonstration of two cases with the Mondini malformation.  J Laryngol Otol. 1967;81(1):27-35. [PubMed]

Johnsen T, Jorgensen MB, Johnsen S.  Mondini cochlea in Pendred's syndrome.  A histological study.  Acta Otolaryngol, 1986 Sept-Oct;102(3-4):239-47. [PubMed]

Johnsen T, Larsen C, Friis J, Hougaard-Jensen F.  Pendred's syndrome.  Acoustic, vestibular and radiological findings in 17 unrelated patients.  J Laryngol Otol. 1987;101(11):1187-92. [PubMed]

Johnsen T, Videbaek H, Olesen KP.  CT-scanning of the cochlea in Pendred's syndrome.  Clin Otolaryngol 1989 Oct;14(5):389-93. [PubMed]

Johnsen T, Sorensen MS, Feldt-Rasmussen U, Friis J.  The variable intrafamiliar expressivity in Pendred's syndrome.  Clin Otolaryngol 1989;14(5):395-9. [PubMed]

K

Kitamura K, Takahashi K, Noguchi Y, Kuroishikawa Y, Tamagawa Y, Ishikawa K, Ichimura K, Hagiwara H.  Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct.  Acta Otolaryngol. 2000 Mar;120(2):137-41.  [PubMed]

Kopp P.  Pendred's syndrome:  identification of the genetic defect a century after its recognition.  Thyroid. 1999 Jan;9(1):65-9.  Review.  [PubMed]

Kopp P, Arseven OK, Sabacan L, Kotlar T, Dupuis J, Cavaliere H, Santos CL, Jameson JL, Medeiros-Neto G.  Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene.  J Clin Endocrinol Metab. 1999 Jan;84(1):336-41.  [PubMed]

Kopp P.  Pendred's syndrome and genetic defects in thyroid hormone synthesis.  Rev Endocr Metab Disord 2000 Jan;1(1-2):109-21. Review.  [PubMed]

Kraiem Z, Heinrich R, Sadeh O, Shiloni E, Nassir E, Hazani E, Glaser B.  Sulfate transport is not impaired in pendred syndrome thyrocytes.  J Clin Endocrinol Metab. 1999 Jul;84(7):2574-6. [PubMed]

L

Lacroix L, Mian C, Caillou B, Talbot M, Filetti S, Schlumberger M, Bidart JM.  Na(+)/I(-) symporter and Pendred syndrome gene and protein expressions in human extra-thyroidal tissues.  Eur J Endocrinol 2001;144(3):297-302.  [PubMed]

Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER.  A mutation in PDS causes non-syndromic recessive deafness.  Nat Genet 1998;18(3):215-7. [PubMed]

Ljunggren JG, Lindstrom H, Hjern B.  The concentration of peroxidase in normal and adenomatous human thyroid tissue with special reference to patients with Pendred's syndrome.  Acta Endocrinol (Copenh). 1973 Feb;72(2):272-8.  [PubMed]

Lopez-Bigas N, Rabionet R, de Cid R, Govea N, Gasparini P, Zelante L, Arbones ML, Estivill X.  Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.  Hum Mutat 1999;14(6):520-6. [PubMed]

Lopez-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbones ML, Gasparini P, Estivill X.  Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.  Hum Mutat 2002;29(1):77-8. [PubMed]

M

MacGillivray MH, Crawford JD, Robey JS.  Deafness, hypothyroidism, and Pendred's syndrome.  Pediatrics 1967;40(6):1064. [PubMed]

Masmoudi S, Charfedine I, Hmani M, Grati M, Ghorbel AM, Elagaied-Boulila A, Drira M, Hardelin JP, Ayadi H.  Pendred syndrome: phenotypic varaibility in two families carrying the same PDS missense mutation.  Am J Med Genet. 2000 Jan 3;90(1):38-44. [PubMed]

Mason ME, Dunn AD, Wortsman J, Day RN, Day KH, Hoback SJ, Myers HE, Shupnik MA, Dunn JT.  Thyroids from siblings with Pendred's syndrome contain thyroglobulin messenger ribonucleic acid variants.  J Clin Endocrinol Metab. 1995 Feb;80(2):497-503. [PubMed]

Medeiros-Neto GA, Kieffer J, Nicolau W, Cintra AB.  Thyroidal iodoproteins in Pendred's syndrome.  J Clin Endocrinol Metab 1968;28(8):1205-13. [PubMed]

Mian C. Lacroix L, Alzieu L, Nocera M, Talbot M, Bidart JM, Schlumberger M, Caillou B.  Sodium iodide symporter and pendrin expression in human thyroid tissues. Thyroid. 2001 Sep;11(9):825-30.  [PubMed]

Morgans ME and Trotter WR.  Association of congenital deafness with goiter.  The nature of the thyroid defect.  Lancet 1958;i:607-9. [PubMed]

Mustapha M, Azar ST, Moglabey YB, Saouda M, Zeitoun G, Loiselet J, Slim R.  Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425.  J Med Genet. 1998 Mar;35(3):202-4.  [PubMed]

MORL, personal communication 2004.  Contact Dr. Richard Smith, The University of Iowa, 52242.  richard-smith@uiowa.edu

N

Namba A, Abe S, Shinkawa H, Kimberling WJ, Usami SI.  Genetic features of hearing loss associated with ear anomalies:  PDS and EYA1 mutation analysis.  J Hum Genet 2001;46(9):518-521. [PubMed]

Niepomniszcze H, Coleoni AH, Degrossi OJ, Scavini LM, Curutchet HP.  Biochemical studies on the iodine organification defect of Pendred's syndrome. Acta Endocrinol (Copenh). 1978 Sep;89(1):70-9. [PubMed]

O

Ozluk A, Yildirim E, Oral S, Celen O, Berberoglu U.  Carcinomas of the thyroid and breast associated with Pendred's syndrome: report of a case.  Surg Today. 1998;28(6):673-4. [PubMed]

P

Pendred V.  Deaf mutism and goitre.  Lancet. 1896;ii:532. [PubMed]

Pfarr N, Borck G, Turk A, Napiontek U, Keilmann A, Muller-Forell W, Kopp P, Pohlenz J.  Goitrous Congenital Hypothyroidism and Hearing Impairment Associated with Mutations in the TPO and SLC26A4/PDS Genes.  J Clin Endocrin Metab.  2006 [PubMed]

Phelps PD, Coffey RA, Trembath RC, Luxon LM, Grossman AB, Britton KE, Kendall-Taylor P, Graham JM, Cadge BC, Stephens SG, Pembrey ME, Reardon W. Radiological Malformations of the ear in Pendred syndrome. Clin Radiol 1998 Apr;53(4):268-73. [PubMed]

Porra V, Bernier-Valentin F, Trouttet-Masson S, Berger-Dutrieux N, Peix JL, Perrin A, Selmi-Ruby S, Rousset B.  Characterization and semiquantitative analyses of pendrin expressed in normal and tumoral human thyroid tissues.  J Clin Endocrinol Metab. 2002 Apr;87(4):1700-7.  [PubMed]

Prasad S, Kolln KA, Cucci RA, Trembath RC, Van Camp G, Smith RJ.  Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.  Am J Med Genet. 2004 Jan 1;124A(1):1-9. [PubMed]

Q

R

Reardon W, Coffey R, Phelps PD, Luxon LM, Stephens D, Kendall-Taylor P, Britton KE, Grossman A, Trembath R.  Pendred syndrome -- 100 years of underascertainment?  QJM 1997 Jul;90(7):443-7.  [PubMed]

Reardon W, Coffey R, Chowdhury T, Grossman A, Jan H, Britton K, Kendall-Taylor P, Trembath R.  Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome.  J Med Genet. 1999 Aug;36(8):595-8. [PubMed]

Reardon W, OMahoney CF, Trembath R, Jan H, Phelps PD.  Enlarged vestibular aqueduct:  a radiological marker of Pendred syndrome, and mutation of the PDS gene.  QJM 2000 Feb;93(2):99-104.  [PubMed]

Royaux IE, Suzuki K, Mori A, Katoh R, Everett LA, Kohn LD, Green ED.  Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells.  Endocrinology 2000;141(2):839-45. [PubMed]

Royaux IE, Wall SM, Karniski LP, Everett LA, Suzuki K, Knepper MA, Green ED.  Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion.  Proct Natl Acad Sci USA 2001;98(7):297-302. [PubMed]

S

Sato E, Nakashima T, Mirua Y, Furuhashi A, Nakayama A, Mori N, Murakami H, Naganawa S, Tadokoro M.  Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene.  Eur J Endocrinol 2001 Dec;145(6):697-703.  [PubMed]

Schuknecht HF.  Mondini dysplasia; a clinical and pathological study.  Ann Otol Rhinol Laryngol Suppl, 1980 Jan-Feb;89(1 Pt 2):1-23. [PubMed]

Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP.  The Pendred syndrome gene encodes a chloride-iodide transport protein.  Nat Genet. 1999 Apr;21(4):440-3. [PubMed]

Scott DA, Karniski LP.  Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange.  Am J Physiol Cell Physiol, 2000 Jan;278(1):C207-211. [PubMed

Scott DA, Wang R, Kreman RM, Andrews M, McDonald JM, Bishop JR, Smith RJ, Karniski LP, Sheffield VC.  Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).  Hum Mol Genet. 2000 Jul 1;9(11):1709-15. [PubMed]

Sheffield VC, Kraiem Z, Beck JC, Nishimura D, Stone EM, Salameh M, Sadeh O, Glaser B.  Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.  Nat Genet. 1996 Apr;12(4):424-6. [PubMed]

Simon I, Fiser A, Tusnady GE.  Predicting protein conformation by statistical methods.  Biochimica et Biophysica Acta. 2001;1549:123-136. [PubMed]

Soleimani M, Greeley T, Petrovic S, Wang Z, Amlal H, Kopp P, Burnham CE.  Pendrin: an apical Cl-/OH-/HCO3- exchanger in the kidney cortex.  Am J Physiol Renal Physiol. 2001 Feb;280(2):F356-64. [PubMed]

Stinckens C, Huygen PL, Joosten FB, Van Camp G, Otten B, Cremers CW.  Fluctuant, progressive hearing loss associated with Meniere like vertigo in three patients with Pendred syndrome.  Int J Pediatr Otorhinolaryngol. 2001 Dec 1;61(3):207-15. [PubMed]

Suzuki K, Royaux IE, Everett LA, Mori-Aoki A, Suzuki S, Nakamura K, Sakai T, Katoh R, Toda S, Green ED, Kohn LD.  Expression of PDS/Pds, the Pendred syndrome gene, in endometrium.  J Clin Endocrinol Metab, 2002; 87(2):938.  [PubMed

T

Takeuchi K, Suzuki H, Horiuchi Y, Mahimo K.  Significance of iodide-perchlorate discharge test for detection of iodine organification defect of the thyroid.  J Clin Endocrinol Metab. 1970;31(2):144-6. [PubMed]

Taylor JP, Metcalfe RA, Watson PF, Weetman AP, Trembath RC.  Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux:  implications for thyroid dysfunction in Pendred syndrome.  J Clin Endocrinol Metab. 2002 Apr;87(4):1778-84. [PubMed]

Trotter WR.  The association of deafness with thyroid dysfunction.  Br Med Bull. 1960;16:92-8. [PubMed]

U

Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ.  Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.  Hum Genet 1999;104(2):188-92. [PubMed]

Usami S, Koda E, Tsukamoto K, Otsuka A, Yuge I, Asamura K, Abe S, Akita J, Namba A.  Molecular diagnosis of deafness:  impact of gene identification.  Audiol Neurootol 2002;7(3):185-90. [PubMed]

V

Vaidya B, Coffey R, Coyle B, Trembath R, San Lazaro C, Reardon W, Kendall-Taylor P.  Concurrence of Pendred syndrome, autoimmune thyroiditis, and simple goiter in one family.  J Clin Endocrinol Metab. 1999 Aug;84(8):2736-8. [PubMed]

Van Hauwe P, Everett LA, Coucked 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.  Two frequent missense mutations in Pendred syndrome.  Hum Mol Genet. 1998 Jul;7(7):1099-104. [PubMed]

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