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Journal Abstract Search

507 related items for PubMed ID: 11502839

  • 1. A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.
    Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P.
    J Clin Endocrinol Metab; 2001 Aug; 86(8):3962-7. PubMed ID: 11502839
    [Abstract] [Full Text] [Related]

  • 2. Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant.
    Tonacchera M, Banco ME, Montanelli L, Di Cosmo C, Agretti P, De Marco G, Ferrarini E, Ordookhani A, Perri A, Chiovato L, Santini F, Vitti P, Pinchera A.
    Clin Endocrinol (Oxf); 2007 Jul; 67(1):34-40. PubMed ID: 17437516
    [Abstract] [Full Text] [Related]

  • 3. Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid.
    Meeus L, Gilbert B, Rydlewski C, Parma J, Roussie AL, Abramowicz M, Vilain C, Christophe D, Costagliola S, Vassart G.
    J Clin Endocrinol Metab; 2004 Sep; 89(9):4285-91. PubMed ID: 15356023
    [Abstract] [Full Text] [Related]

  • 4. Structural analysis of the thyrotropin receptor in four patients with congenital hypothyroidism due to thyroid hypoplasia.
    Nogueira CR, Nguyen LQ, Coelho-Neto JR, Arseven OK, Jameson JL, Kopp P, Medeiros-Neto GA.
    Thyroid; 1999 Jun; 9(6):523-9. PubMed ID: 10411113
    [Abstract] [Full Text] [Related]

  • 5. Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism.
    Vincenzi M, Camilot M, Ferrarini E, Teofoli F, Venturi G, Gaudino R, Cavarzere P, De Marco G, Agretti P, Dimida A, Tonacchera M, Boner A, Antoniazzi F.
    BMC Endocr Disord; 2014 Aug 22; 14():69. PubMed ID: 25146893
    [Abstract] [Full Text] [Related]

  • 6. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.
    Vilain C, Rydlewski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P, Renneboog B, Parma J, Costagliola S, Vassart G.
    J Clin Endocrinol Metab; 2001 Jan 22; 86(1):234-8. PubMed ID: 11232006
    [Abstract] [Full Text] [Related]

  • 7. Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability.
    de Sanctis L, Corrias A, Romagnolo D, Di Palma T, Biava A, Borgarello G, Gianino P, Silvestro L, Zannini M, Dianzani I.
    J Clin Endocrinol Metab; 2004 Nov 22; 89(11):5669-74. PubMed ID: 15531527
    [Abstract] [Full Text] [Related]

  • 8. Congenital hypothyroidism: etiologies, diagnosis, and management.
    LaFranchi S.
    Thyroid; 1999 Jul 22; 9(7):735-40. PubMed ID: 10447022
    [Abstract] [Full Text] [Related]

  • 9. Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity.
    Grasberger H, Ringkananont U, Lefrancois P, Abramowicz M, Vassart G, Refetoff S.
    Mol Endocrinol; 2005 Jul 22; 19(7):1779-91. PubMed ID: 15718293
    [Abstract] [Full Text] [Related]

  • 10. Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene.
    Tonacchera M, Agretti P, Pinchera A, Rosellini V, Perri A, Collecchi P, Vitti P, Chiovato L.
    J Clin Endocrinol Metab; 2000 Mar 22; 85(3):1001-8. PubMed ID: 10720030
    [Abstract] [Full Text] [Related]

  • 11. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.
    Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Grüters A, Busslinger M, Di Lauro R.
    Nat Genet; 1998 May 22; 19(1):83-6. PubMed ID: 9590296
    [Abstract] [Full Text] [Related]

  • 12. Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism.
    Narumi S, Araki S, Hori N, Muroya K, Yamamoto Y, Asakura Y, Adachi M, Hasegawa T.
    Eur J Endocrinol; 2012 Nov 22; 167(5):625-32. PubMed ID: 22898500
    [Abstract] [Full Text] [Related]

  • 13. Clinical and molecular analysis of thyroid hypoplasia: a population-based approach in southern Brazil.
    Ramos HE, Nesi-França S, Boldarine VT, Pereira RM, Chiamolera MI, Camacho CP, Graf H, de Lacerda L, Carvalho GA, Maciel RM.
    Thyroid; 2009 Jan 22; 19(1):61-8. PubMed ID: 18976153
    [Abstract] [Full Text] [Related]

  • 14. Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands.
    Kumorowicz-Czoch M, Madetko-Talowska A, Dudek A, Tylek-Lemanska D.
    J Pediatr Endocrinol Metab; 2015 Jul 22; 28(7-8):735-43. PubMed ID: 25720050
    [Abstract] [Full Text] [Related]

  • 15. Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter.
    Bereket A, Liao XH, Turoglu T, Aribal E, Refetoff S.
    J Pediatr Endocrinol Metab; 2004 Jul 22; 17(7):1021-9. PubMed ID: 15301052
    [Abstract] [Full Text] [Related]

  • 16. Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism.
    Al Taji E, Biebermann H, Límanová Z, Hníková O, Zikmund J, Dame C, Grüters A, Lebl J, Krude H.
    Eur J Endocrinol; 2007 May 22; 156(5):521-9. PubMed ID: 17468187
    [Abstract] [Full Text] [Related]

  • 17. Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations.
    Ramos HE, Carré A, Chevrier L, Szinnai G, Tron E, Cerqueira TL, Léger J, Cabrol S, Puel O, Queinnec C, De Roux N, Guillot L, Castanet M, Polak M.
    Eur J Endocrinol; 2014 Oct 22; 171(4):499-507. PubMed ID: 25214233
    [Abstract] [Full Text] [Related]

  • 18. Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor.
    Park SM, Clifton-Bligh RJ, Betts P, Chatterjee VK.
    Clin Endocrinol (Oxf); 2004 Feb 22; 60(2):220-7. PubMed ID: 14725684
    [Abstract] [Full Text] [Related]

  • 19. [Congenital hypothyroidism. Molecular defects in familial disease].
    Polak M.
    Ann Endocrinol (Paris); 2003 Feb 22; 64(1):54-7. PubMed ID: 12707636
    [No Abstract] [Full Text] [Related]

  • 20. A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome.
    Hermanns P, Shepherd S, Mansor M, Schulga J, Jones J, Donaldson M, Pohlenz J.
    Thyroid; 2014 Jun 22; 24(6):939-44. PubMed ID: 24499175
    [Abstract] [Full Text] [Related]

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