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 *

154 related articles for article (PubMed ID: 18765512)

  • 1. Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism.
    Afink G; Kulik W; Overmars H; de Randamie J; Veenboer T; van Cruchten A; Craen M; Ris-Stalpers C
    J Clin Endocrinol Metab; 2008 Dec; 93(12):4894-901. PubMed ID: 18765512
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C).
    Shareef R; Furman A; Watanabe Y; Bruellman R; Abdullah MA; Dumitresu AM; Refetoff S; Bertolini A; Borsò M; Saba A; Zucchi R; Weiss RE
    Thyroid; 2023 Feb; 33(2):261-266. PubMed ID: 36633921
    [No Abstract]   [Full Text] [Related]  

  • 3. Towards the pre-clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase (DEHAL1) defects.
    Iglesias A; García-Nimo L; Cocho de Juan JA; Moreno JC
    Best Pract Res Clin Endocrinol Metab; 2014 Mar; 28(2):151-9. PubMed ID: 24629858
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Iodide handling disorders (NIS, TPO, TG, IYD).
    Targovnik HM; Citterio CE; Rivolta CM
    Best Pract Res Clin Endocrinol Metab; 2017 Mar; 31(2):195-212. PubMed ID: 28648508
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Effects of 3-nitro-L-tyrosine on thyroid function in the rat: an experimental model for the dehalogenase defect.
    Green WL
    J Clin Invest; 1971 Dec; 50(12):2474-84. PubMed ID: 5129302
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in the iodotyrosine deiodinase gene and hypothyroidism.
    Moreno JC; Klootwijk W; van Toor H; Pinto G; D'Alessandro M; Lèger A; Goudie D; Polak M; Grüters A; Visser TJ
    N Engl J Med; 2008 Apr; 358(17):1811-8. PubMed ID: 18434651
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Iodotyrosine deiodinase defect identified via genome-wide approach.
    Burniat A; Pirson I; Vilain C; Kulik W; Afink G; Moreno-Reyes R; Corvilain B; Abramowicz M
    J Clin Endocrinol Metab; 2012 Jul; 97(7):E1276-83. PubMed ID: 22535972
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical and genetic analysis of a compound heterozygous mutation in the thyroglobulin gene in a Chinese twin family with congenital goiter and hypothyroidism.
    Liu S; Zhang S; Li W; Zhang A; Qi F; Zheng G; Yan S; Ma X
    Twin Res Hum Genet; 2012 Feb; 15(1):126-32. PubMed ID: 22784463
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
    Zamproni I; Grasberger H; Cortinovis F; Vigone MC; Chiumello G; Mora S; Onigata K; Fugazzola L; Refetoff S; Persani L; Weber G
    J Clin Endocrinol Metab; 2008 Feb; 93(2):605-10. PubMed ID: 18042646
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Iodotyrosine dehalogenase 1 (DEHAL1) is a transmembrane protein involved in the recycling of iodide close to the thyroglobulin iodination site.
    Gnidehou S; Caillou B; Talbot M; Ohayon R; Kaniewski J; Noël-Hudson MS; Morand S; Agnangji D; Sezan A; Courtin F; Virion A; Dupuy C
    FASEB J; 2004 Oct; 18(13):1574-6. PubMed ID: 15289438
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism.
    Siffo S; Adrover E; Citterio CE; Miras MB; Balbi VA; Chiesa A; Weill J; Sobrero G; González VG; Papendieck P; Martinez EB; Gonzalez-Sarmiento R; Rivolta CM; Targovnik HM
    Mol Cell Endocrinol; 2018 Sep; 473():1-16. PubMed ID: 29275168
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.
    Bruellman RJ; Watanabe Y; Ebrhim RS; Creech MK; Abdullah MA; Dumitrescu AM; Refetoff S; Weiss RE
    J Clin Endocrinol Metab; 2020 May; 105(5):1564-72. PubMed ID: 31867598
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical genetics of congenital hypothyroidism.
    Szinnai G
    Endocr Dev; 2014; 26():60-78. PubMed ID: 25231445
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation.
    Rivolta CM; Moya CM; Gutnisky VJ; Varela V; Miralles-García JM; González-Sarmiento R; Targovnik HM
    J Clin Endocrinol Metab; 2005 Jun; 90(6):3766-70. PubMed ID: 15769978
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7.
    Machiavelli GA; Caputo M; Rivolta CM; Olcese MC; Gruñeiro-Papendieck L; Chiesa A; González-Sarmiento R; Targovnik HM
    Clin Endocrinol (Oxf); 2010 Jan; 72(1):112-21. PubMed ID: 19438905
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel missense mutation (I26M) in DUOXA2 causing congenital goiter hypothyroidism impairs NADPH oxidase activity but not protein expression.
    Liu S; Liu L; Niu X; Lu D; Xia H; Yan S
    J Clin Endocrinol Metab; 2015 Apr; 100(4):1225-9. PubMed ID: 25675383
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.
    Deladoëy J; Pfarr N; Vuissoz JM; Parma J; Vassart G; Biesterfeld S; Pohlenz J; Van Vliet G
    J Clin Endocrinol Metab; 2008 Feb; 93(2):627-33. PubMed ID: 18029453
    [TBL] [Abstract][Full Text] [Related]  

  • 18. New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.
    Citterio CE; Machiavelli GA; Miras MB; Gruñeiro-Papendieck L; Lachlan K; Sobrero G; Chiesa A; Walker J; Muñoz L; Testa G; Belforte FS; González-Sarmiento R; Rivolta CM; Targovnik HM
    Mol Cell Endocrinol; 2013 Jan; 365(2):277-91. PubMed ID: 23164529
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [SPORADIC GOITER IN AN ADULT WITH HYPOTHYROIDISM. LARGE EXCESS OF MONO-IODOTYROSINE AND ABSENCE OF IODOTHYRONINES IN THYROGLOBULIN].
    CODACCIONI JL; BOYER J; BISMUTH J; GASCARD E; VAGUE J
    Ann Endocrinol (Paris); 1963; 24():582-7. PubMed ID: 14051312
    [No Abstract]   [Full Text] [Related]  

  • 20. [Physiological significance of iodotyrosine-deiodinases].
    Voss C; Hartmann N
    Z Gesamte Inn Med; 1972 Mar; 27(5):193-7. PubMed ID: 4558910
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.