217 related articles for article (PubMed ID: 29777899)
1. Congenital dyshormonogenic hypothyroidism with goiter caused by a sodium/iodide symporter (SLC5A5) mutation in a family of Shih-Tzu dogs.
Soler Arias EA; Castillo VA; Garcia JD; Fyfe JC
Domest Anim Endocrinol; 2018 Oct; 65():1-8. PubMed ID: 29777899
[TBL] [Abstract][Full Text] [Related]
2. An Intramolecular Ionic Interaction Linking Defective Sodium/Iodide Symporter Transport to the Plasma Membrane and Dyshormonogenic Congenital Hypothyroidism.
Bernal Barquero CE; Martín M; Geysels RC; Peyret V; Papendieck P; Masini-Repiso AM; Chiesa AE; Nicola JP
Thyroid; 2022 Jan; 32(1):19-27. PubMed ID: 34726525
[No Abstract] [Full Text] [Related]
3. Congenital hypothyroidism and late-onset goiter: identification and characterization of a novel mutation in the sodium/iodide symporter of the proband and family members.
Montanelli L; Agretti P; Marco Gd; Bagattini B; Ceccarelli C; Brozzi F; Lettiero T; Cerbone M; Vitti P; Salerno M; Pinchera A; Tonacchera M
Thyroid; 2009 Dec; 19(12):1419-25. PubMed ID: 19916865
[TBL] [Abstract][Full Text] [Related]
4. Novel Sodium/Iodide Symporter Compound Heterozygous Pathogenic Variants Causing Dyshormonogenic Congenital Hypothyroidism.
Martín M; Bernal Barquero CE; Geysels RC; Papendieck P; Peyret V; Masini-Repiso AM; Chiesa AE; Nicola JP
Thyroid; 2019 Jul; 29(7):1023-1026. PubMed ID: 31115276
[TBL] [Abstract][Full Text] [Related]
5. A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism.
Watanabe Y; Ebrhim RS; Abdullah MA; Weiss RE
Thyroid; 2018 Aug; 28(8):1068-1070. PubMed ID: 29759035
[TBL] [Abstract][Full Text] [Related]
6. Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD.
Szinnai G; Kosugi S; Derrien C; Lucidarme N; David V; Czernichow P; Polak M
J Clin Endocrinol Metab; 2006 Apr; 91(4):1199-204. PubMed ID: 16418213
[TBL] [Abstract][Full Text] [Related]
7. Silent but Not Harmless: A Synonymous
Geysels RC; Bernal Barquero CE; Martín M; Peyret V; Nocent M; Sobrero G; Muñoz L; Signorino M; Testa G; Castro RB; Masini-Repiso AM; Miras MB; Nicola JP
Front Endocrinol (Lausanne); 2022; 13():868891. PubMed ID: 35600585
[TBL] [Abstract][Full Text] [Related]
8. A Novel SLC5A5 Variant Reveals the Crucial Role of Kinesin Light Chain 2 in Thyroid Hormonogenesis.
Martín M; Modenutti CP; Gil Rosas ML; Peyret V; Geysels RC; Bernal Barquero CE; Sobrero G; Muñoz L; Signorino M; Testa G; Miras MB; Masini-Repiso AM; Calcaterra NB; Coux G; Carrasco N; Martí MA; Nicola JP
J Clin Endocrinol Metab; 2021 Jun; 106(7):1867-1881. PubMed ID: 33912899
[TBL] [Abstract][Full Text] [Related]
9. Congenital hypothyroidism with goiter in Tenterfield terriers.
Dodgson SE; Day R; Fyfe JC
J Vet Intern Med; 2012; 26(6):1350-7. PubMed ID: 23113744
[TBL] [Abstract][Full Text] [Related]
10. Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism.
Durgia H; Nicholas AK; Schoenmakers E; Dickens JA; Halanaik D; Sahoo J; Kamalanathan S; Schoenmakers N
Thyroid; 2022 Feb; 32(2):215-218. PubMed ID: 34806438
[TBL] [Abstract][Full Text] [Related]
11. Impact of the Mutational Landscape of the Sodium/Iodide Symporter in Congenital Hypothyroidism.
Martín M; Nicola JP
Thyroid; 2021 Dec; 31(12):1776-1785. PubMed ID: 34514854
[No Abstract] [Full Text] [Related]
12. CNS hypomyelination in Rat Terrier dogs with congenital goiter and a mutation in the thyroid peroxidase gene.
Pettigrew R; Fyfe JC; Gregory BL; Lipsitz D; Delahunta A; Summers BA; Shelton GD
Vet Pathol; 2007 Jan; 44(1):50-6. PubMed ID: 17197623
[TBL] [Abstract][Full Text] [Related]
13. Iodide transport defect: functional characterization of a novel mutation in the Na+/I- symporter 5'-untranslated region in a patient with congenital hypothyroidism.
Nicola JP; Nazar M; Serrano-Nascimento C; Goulart-Silva F; Sobrero G; Testa G; Nunes MT; Muñoz L; Miras M; Masini-Repiso AM
J Clin Endocrinol Metab; 2011 Jul; 96(7):E1100-7. PubMed ID: 21565787
[TBL] [Abstract][Full Text] [Related]
14. Congenital hypothyroidism with goiter in toy fox terriers.
Fyfe JC; Kampschmidt K; Dang V; Poteet BA; He Q; Lowrie C; Graham PA; Fetro VM
J Vet Intern Med; 2003; 17(1):50-7. PubMed ID: 12564727
[TBL] [Abstract][Full Text] [Related]
15. Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein.
Tonacchera M; Agretti P; de Marco G; Elisei R; Perri A; Ambrogini E; De Servi M; Ceccarelli C; Viacava P; Refetoff S; Panunzi C; Bitti ML; Vitti P; Chiovato L; Pinchera A
Clin Endocrinol (Oxf); 2003 Oct; 59(4):500-6. PubMed ID: 14510914
[TBL] [Abstract][Full Text] [Related]
16. First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations.
Stoupa A; Al Hage Chehade G; Kariyawasam D; Tohier C; Bole-Feysot C; Nitschke P; Thibault H; Jullie ML; Polak M; Carré A
Eur J Endocrinol; 2020 Nov; 183(5):K1-K5. PubMed ID: 32805706
[TBL] [Abstract][Full Text] [Related]
17. Diagnosis of iodide transport defect: do we need to measure the saliva/serum radioactive iodide ratio to diagnose iodide transport defect?
Fukata S; Hishinuma A; Nakatake N; Tajiri J
Thyroid; 2010 Dec; 20(12):1419-21. PubMed ID: 21054210
[TBL] [Abstract][Full Text] [Related]
18. Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.
Pohlenz J; Rosenthal IM; Weiss RE; Jhiang SM; Burant C; Refetoff S
J Clin Invest; 1998 Mar; 101(5):1028-35. PubMed ID: 9486973
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Congenital primary hypothyroidism with subsequent adenomatous goiter in a Turkish patient caused by a homozygous 10-bp deletion in the thyroid peroxidase (TPO) gene.
Pfarr N; Musholt TJ; Musholt PB; Brzezinska R; Pohlenz J
Clin Endocrinol (Oxf); 2006 May; 64(5):514-8. PubMed ID: 16649969
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
