These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

170 related articles for article (PubMed ID: 15301052)

  • 1. 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; 17(7):1021-9. PubMed ID: 15301052
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 19(1):83-6. PubMed ID: 9590296
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 86(1):234-8. PubMed ID: 11232006
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 14():69. PubMed ID: 25146893
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 19(7):1779-91. PubMed ID: 15718293
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 89(11):5669-74. PubMed ID: 15531527
    [TBL] [Abstract][Full Text] [Related]  

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

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases.
    Castanet M; Leenhardt L; Léger J; Simon-Carré A; Lyonnet S; Pelet A; Czernichow P; Polak M
    Pediatr Res; 2005 Jun; 57(6):908-13. PubMed ID: 15845640
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A search for the possible molecular mechanisms of thyroid dysgenesis: sex ratios and associated malformations.
    Devos H; Rodd C; Gagné N; Laframboise R; Van Vliet G
    J Clin Endocrinol Metab; 1999 Jul; 84(7):2502-6. PubMed ID: 10404827
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 28(7-8):735-43. PubMed ID: 25720050
    [TBL] [Abstract][Full Text] [Related]  

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

  • 15. Development of the thyroid gland: lessons from congenitally hypothyroid mice and men.
    Van Vliet G
    Clin Genet; 2003 Jun; 63(6):445-55. PubMed ID: 12786749
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular abnormalities of organogenesis and differentiation of the thyroid gland.
    Di Lauro R
    Ann Endocrinol (Paris); 2003 Feb; 64(1):53. PubMed ID: 12707635
    [No Abstract]   [Full Text] [Related]  

  • 17. Genetic regulation of thyroid development.
    Gillam MP; Kopp P
    Curr Opin Pediatr; 2001 Aug; 13(4):358-63. PubMed ID: 11717563
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach.
    Calaciura F; Miscio G; Coco A; Leonardi D; Cisternino C; Regalbuto C; Bozzali M; Maiorana R; Ranieri A; Carta A; Buscema M; Trischitta V; Sava L; Tassi V
    Thyroid; 2002 Nov; 12(11):945-51. PubMed ID: 12490071
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 171(4):499-507. PubMed ID: 25214233
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations.
    Montanelli L; Tonacchera M
    Mol Cell Endocrinol; 2010 Jun; 322(1-2):64-71. PubMed ID: 20302910
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.