| 1 | Novel splice-site mutation c.1615-2A>G (IVS14-2A&g t;G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portugues e family. (21416585) | SimA/es-Teixeira H.... del Castillo I. | 2011 | SLC26A4 |
| 2 | Genetics and phenomics of Pendred syndrome. (20298745) | Bizhanova A.... Kopp P. | 2010 | SLC26A4 |
| 3 | SLC26A4 mutation spectrum associated with DFNB4 deafn ess and Pendred's syndrome in Pakistanis. (19287372) | Anwar S.... Riazuddin S. | 2009 | SLC26A4 |
| 4 | Do mutations of the Pendred syndrome gene, SLC26A4, c onfer resistance to asthma and hypertension? (19289392) | Madeo A.C.... Griffith A.J. | 2009 | SLC26A4 |
| 5 | Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. (18283249) | Maciaszczyk K.... Lewinski A. | 2008 | SLC26A4 |
| 6 | A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. (18285825) | Pera A.... Hernandez-Chico C. | 2008 | SLC26A4 |
| 7 | Goitre and hearing impairment in a patient with Pendred syndrome. (18349467) | Arwert L.I.... Sepers J.M. | 2008 | SLC26A4 |
| 8 | Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. (17940114) | Palos F.... Lado-Abeal J. | 2008 | DIO2, SLC26A4 |
| 9 | Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. (19017801) | Pera A.... Paulmichl M. | 2008 | SLC26A4 |
| 10 | Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndrome. (18538122) | Pela I.... Bianchi B. | 2008 | SLC12A3, SLC26A4 |
| 11 | Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene. (19169484) | Lofrano-Porto A.... Casulari L.A. | 2008 | SLC26A4 |
| 12 | Two common and three novel PDS mutations in Thai patients with Pendred syndrome. (18250610) | Snabboon T.... Shotelersuk V. | 2007 | SLC26A4 |
| 13 | Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). (17503324) | Yang T.... Smith R.J. | 2007 | SLC26A4 |
| 14 | Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan. (17697873) | Lai C.C.... Jap T.S. | 2007 | SLC26A4 |
| 15 | Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model. (17299139) | Wangemann P.... Marcus D.C. | 2007 | TRPV6, SLC26A4 |
| 16 | Patients suffered from enlarged vestibular aqueduct syndrome in Chifeng deaf and dumb school detected by Pendred's syndrome gene hot spot mutation screening (17007371) | Dai P.... Huang D.L. | 2006 | SLC26A4 |
| 17 | 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. (15689455) | Pryor S.P.... Griffith A.J. | 2005 | SLC26A4 |
| 18 | Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. (15355436) | Blons H.... Marlin S. | 2004 | SLC26A4 |
| 19 | Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. (15531480) | Napiontek U.... Pohlenz J. | 2004 | SLC26A4 |
| 20 | Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene. (12920581) | Massa G.... Wuyts W. | 2003 | SLC26A4 |
| 21 | Hypermethylation of the Pendred syndrome gene SLC26A4 is an early event in thyroid tumorigenesis. (12727855) | Xing M.... Sidransky D. | 2003 | SLC26A4 |
| 22 | Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey. (12974744) | Tekin M.... Akar N. | 2003 | SLC26A4 |
| 23 | Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. (14508505) | Tsukamoto K.... Usami S. | 2003 | SLC26A4 |
| 24 | Mutations in the PDS gene in german families with Pendred's syndrome: V138F is a founder mutation. (12788906) | Borck G.... Pohlenz J. | 2003 | SLC26A4 |
| 25 | Pendred syndrome. (16444159) | Glaser B. | 2003 | TG |
| 26 | Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. (11919333) | Fugazzola L.... Beck-Peccoz P. | 2002 | SLC26A4 |
| 27 | Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome. (12354788) | Rotman-Pikielny P.... Yen P.M. | 2002 | SLC26A4 |
| 28 | Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene. (11720893) | Sato E.... Tadokoro M. | 2001 | SLC26A4 |
| 29 | Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. (11317356) | Campbell C.... Smith R.J.H. | 2001 | SLC26A4 |
| 30 | Long-term audiological feature in Pendred syndrome caused by PDS mutation. (11405873) | Iwasaki S.... Hoshino T. | 2001 | SLC26A4 |
| 31 | Fluctuant, progressive hearing loss associated with Meniere like vertigo in three patients with the Pendred syndrome. (11700190) | Stinckens C.... Cremers C.W. | 2001 | SLC26A4 |
| 32 | Aggressive metastatic follicular thyroid carcinoma with anaplastic transformation arising from a long-standing goiter in a patient with Pendred's syndrome. (11716048) | Camargo R.... Medeiros-Neto G. | 2001 | SLC26A4 |
| 33 | Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues. (10843192) | Bidart J.M.... Schlumberger M. | 2000 | SLC26A4 |
| 34 | The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4. (10868226) | Wilcox E.R.... Green E.D. | 2000 | SLC26A4 |
| 35 | 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. (10902795) | Fugazzola L.... Beck-Peccoz P. | 2000 | SLC26A4 |
| 36 | Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. (10602116) | Masmoudi S.... Ayadi M. | 2000 | SLC26A4 |
| 37 | Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene. (10700480) | Reardon W.... Phelps P.D. | 2000 | SLC26A4 |
| 38 | Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). (10861298) | Scott D.A.... Sheffield V.C. | 2000 | SLC26A4 |
| 39 | Expression of Na+/I- symporter and Pendred syndrome genes in trophoblast cells. (11095481) | Bidart J.M.... Schlumberger M. | 2000 | SLC26A4 |
| 40 | The Pendred syndrome gene encodes a chloride-iodide transport protein. (10192399) | Scott D.A.... Karnishki L.P. | 1999 | BAMBI, SLC26A4 |
| 41 | Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. (10449762) | Everett L.A.... Green E.D. | 1999 | SLC26A4 |
| 42 | Pendred's syndrome: identification of the genetic defect a century after its recognition. (10037079) | Kopp P. | 1999 | SLC26A4 |
| 43 | Concurrence of Pendred syndrome, autoimmune thyroidit is, and simple goiter in one family. (10443670) | Vaidya B.... Kendall-Taylor P. | 1999 | SLC26A4 |
| 44 | Sulfate transport is not impaired in pendred syndrome thyrocytes. (10404839) | Kraiem Z.... Glaser B. | 1999 | SLC26A4 |
| 45 | Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre). (9618167) | Coyle B.... Trembath R.C. | 1998 | SLC26A4 |
| 46 | Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). (9398842) | Everett L.A.... Green E.D. | 1997 | SLC26A4 |
| 47 | The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q. (9070918) | Coucke P.... Willems P.J. | 1997 | SLC26A4 |
| 48 | Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. (8630497) | Coyle B.... Trembath R. | 1996 | PAX3, MITF, COL4A5 |
| 49 | Thyroids from siblings with Pendred's syndrome contain thyroglobulin messenger ribonucleic acid variants. (7852510) | Mason M.E.... Dunn J.T. | 1995 | TG |
| 50 | Clinical and molecular genetics studies in Pendred's syndrome. (7833664) | Billerbeck A.E.... Medeiros-Neto G. | 1994 | TPO |
