BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

158 related articles for article (PubMed ID: 11375792)

  • 1. Clinical and molecular analysis of three Mexican families with Pendred's syndrome.
    Gonzalez Trevino O; Karamanoglu Arseven O; Ceballos CJ; Vives VI; Ramirez RC; Gomez VV; Medeiros-Neto G; Kopp P
    Eur J Endocrinol; 2001 Jun; 144(6):585-93. PubMed ID: 11375792
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome.
    Gillam MP; Bartolone L; Kopp P; Benvenga S
    Thyroid; 2005 Jul; 15(7):734-41. PubMed ID: 16053392
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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.
    Kopp P; Arseven OK; Sabacan L; Kotlar T; Dupuis J; Cavaliere H; Santos CL; Jameson JL; Medeiros-Neto G
    J Clin Endocrinol Metab; 1999 Jan; 84(1):336-41. PubMed ID: 9920104
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.
    Borck G; Roth C; Martiné U; Wildhardt G; Pohlenz J
    J Clin Endocrinol Metab; 2003 Jun; 88(6):2916-21. PubMed ID: 12788906
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Pendred's syndrome: identification of the genetic defect a century after its recognition.
    Kopp P
    Thyroid; 1999 Jan; 9(1):65-9. PubMed ID: 10037079
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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.
    Fugazzola L; Mannavola D; Cerutti N; Maghnie M; Pagella F; Bianchi P; Weber G; Persani L; Beck-Peccoz P
    J Clin Endocrinol Metab; 2000 Jul; 85(7):2469-75. PubMed ID: 10902795
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Two Chinese families with Pendred's syndrome--radiological imaging of the ear and molecular analysis of the pendrin gene.
    Yong AM; Goh SS; Zhao Y; Eng PH; Koh LK; Khoo DH
    J Clin Endocrinol Metab; 2001 Aug; 86(8):3907-11. PubMed ID: 11502831
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Aggressive metastatic follicular thyroid carcinoma with anaplastic transformation arising from a long-standing goiter in a patient with Pendred's syndrome.
    Camargo R; Limbert E; Gillam M; Henriques MM; Fernandes C; Catarino AL; Soares J; Alves VA; Kopp P; Medeiros-Neto G
    Thyroid; 2001 Oct; 11(10):981-8. PubMed ID: 11716048
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome.
    Gausden E; Armour JA; Coyle B; Coffey R; Hochberg Z; Pembrey M; Britton KE; Grossman A; Reardon W; Trembath R
    Clin Endocrinol (Oxf); 1996 Apr; 44(4):441-6. PubMed ID: 8706311
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct.
    Bogazzi F; Russo D; Raggi F; Ultimieri F; Berrettini S; Forli F; Grasso L; Ceccarelli C; Mariotti S; Pinchera A; Bartalena L; Martino E
    J Endocrinol Invest; 2004 May; 27(5):430-5. PubMed ID: 15279074
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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. PubMed ID: 11919333
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pendred's syndrome: a study of patients and relatives.
    Jamal MN; Arnaout MA; Jarrar R
    Ann Otol Rhinol Laryngol; 1995 Dec; 104(12):957-62. PubMed ID: 7492068
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Pendred's syndrome: a cause of goiter associated with deafness].
    Vázquez AG; Montesinos IG; Jiménez AM; García JA; García JG; Hernández JA
    Endocrinol Nutr; 2009 Oct; 56(8):428-30. PubMed ID: 19959154
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Pendred syndrome.
    Wémeau JL; Kopp P
    Best Pract Res Clin Endocrinol Metab; 2017 Mar; 31(2):213-224. PubMed ID: 28648509
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; Figueiredo LG; Neves FA; Casulari LA
    Arq Bras Endocrinol Metabol; 2008 Nov; 52(8):1296-303. PubMed ID: 19169484
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Pendred's syndrome with goiter and enlarged vestibular aqueducts diagnosed by PDS gene mutation.
    Ishinaga H; Shimizu T; Yuta A; Tsukamoto K; Usami S; Majima Y
    Head Neck; 2002 Jul; 24(7):710-3. PubMed ID: 12112546
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-Pendred syndrome?
    Kara C; Kılıç M; Uçaktürk A; Aydın M
    J Clin Res Pediatr Endocrinol; 2010; 2(2):81-4. PubMed ID: 21274344
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome.
    Cremers CW; Admiraal RJ; Huygen PL; Bolder C; Everett LA; Joosten FB; Green ED; van Camp G; Otten BJ
    Int J Pediatr Otorhinolaryngol; 1998 Oct; 45(2):113-23. PubMed ID: 9849679
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Female siblings with Pendred's syndrome.
    Nakagawa O; Ito S; Hanyu O; Yamazaki M; Urushiyama M; Tani N; Shibata A
    Intern Med; 1994 Jun; 33(6):369-72. PubMed ID: 7919627
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.