159 related articles for article (PubMed ID: 20963560)
1. Analysis of TPO gene in Turkish children with iodide organification defect: identification of a novel mutation.
Turkkahraman D; Alper OM; Pehlivanoglu S; Aydin F; Yildiz A; Luleci G; Akcurin S; Bircan I
Endocrine; 2010 Feb; 37(1):124-8. PubMed ID: 20963560
[TBL] [Abstract][Full Text] [Related]
2. Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.
Nascimento AC; Guedes DR; Santos CS; Knobel M; Rubio IG; Medeiros-Neto G
Thyroid; 2003 Dec; 13(12):1145-51. PubMed ID: 14751036
[TBL] [Abstract][Full Text] [Related]
3. Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.
Tenenbaum-Rakover Y; Mamanasiri S; Ris-Stalpers C; German A; Sack J; Allon-Shalev S; Pohlenz J; Refetoff S
Clin Endocrinol (Oxf); 2007 May; 66(5):695-702. PubMed ID: 17381485
[TBL] [Abstract][Full Text] [Related]
4. A truncating TPO mutation (Y55X) in patients with hypothyroidism and total iodide organification defect.
Cangul H; Darendeliler F; Saglam Y; Kucukemre B; Kendall M; Boelaert K; Barrett TG; Maher ER
Endocr Res; 2015; 40(3):146-50. PubMed ID: 25328990
[TBL] [Abstract][Full Text] [Related]
5. Final diagnosis in children with subclinical hypothyroidism and mutation analysis of the thyroid peroxidase gene (TPO).
Turkkahraman D; Alper OM; Aydin F; Yildiz A; Pehlivanoglu S; Luleci G; Akcurin S; Bircan I
J Pediatr Endocrinol Metab; 2009 Sep; 22(9):845-51. PubMed ID: 19960894
[TBL] [Abstract][Full Text] [Related]
6. Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect.
Neves SC; Mezalira PR; Dias VM; Chagas AJ; Viana M; Targovnik H; Knobel M; Medeiros-Neto G; Rubio IG
Arq Bras Endocrinol Metabol; 2010 Nov; 54(8):732-7. PubMed ID: 21340161
[TBL] [Abstract][Full Text] [Related]
7. Mild thyroid peroxidase deficiency caused by TPO mutations with residual activity: Correlation between clinical phenotypes and enzymatic activity.
Narumi S; Fox LA; Fukudome K; Sakaguchi Z; Sugisawa C; Abe K; Kameyama K; Hasegawa T
Endocr J; 2017 Nov; 64(11):1087-1097. PubMed ID: 28867693
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.
Rivolta CM; Louis-Tisserand M; Varela V; Gruñeiro-Papendieck L; Chiesa A; González-Sarmiento R; Targovnik HM
Clin Endocrinol (Oxf); 2007 Aug; 67(2):238-46. PubMed ID: 17547680
[TBL] [Abstract][Full Text] [Related]
10. Congenital goitrous primary hypothyroidism in two German families caused by novel thyroid peroxidase (TPO) gene mutations.
Altmann K; Hermanns P; Mühlenberg R; Fricke-Otto S; Wentzell R; Pohlenz J
Exp Clin Endocrinol Diabetes; 2013 Jun; 121(6):343-6. PubMed ID: 23512414
[TBL] [Abstract][Full Text] [Related]
11. The TPO mutation screening and genotype-phenotype analysis in 230 Chinese patients with congenital hypothyroidism.
Zhang RJ; Sun F; Chen F; Fang Y; Yan CY; Zhang CR; Ying YX; Wang Z; Zhang CX; Wu FY; Han B; Liang J; Zhao SX; Song HD
Mol Cell Endocrinol; 2020 Apr; 506():110761. PubMed ID: 32088313
[TBL] [Abstract][Full Text] [Related]
12. [Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism].
Li HF; Liu YX; Xie JS; Chen B; Li SL
Zhonghua Er Ke Za Zhi; 2011 Aug; 49(8):626-30. PubMed ID: 22093430
[TBL] [Abstract][Full Text] [Related]
13. A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family.
Cangül H; Doğan M; Üstek D
J Clin Res Pediatr Endocrinol; 2015 Dec; 7(4):323-8. PubMed ID: 26777044
[TBL] [Abstract][Full Text] [Related]
14. Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations.
Rodrigues TMB; Silva MMDC; Freitas MM; Duarte ZMC; Frutuoso VS; Rodrigues MT; Rubio IGS
Front Endocrinol (Lausanne); 2021; 12():671659. PubMed ID: 34220711
[TBL] [Abstract][Full Text] [Related]
15. Mutation Spectrum in TPO Gene of Bangladeshi Patients with Thyroid Dyshormonogenesis and Analysis of the Effects of Different Mutations on the Structural Features and Functions of TPO Protein through
Begum MN; Islam MT; Hossain SR; Bhuyan GS; Halim MA; Shahriar I; Sarker SK; Haque S; Konika TK; Islam MS; Rahat A; Qadri SK; Sultana R; Begum S; Sultana S; Saha N; Hasan M; Hasanat MA; Banu H; Shekhar HU; Chowdhury EK; Sajib AA; Islam ABMMK; Qadri SS; Qadri F; Akhteruzzaman S; Mannoor K
Biomed Res Int; 2019; 2019():9218903. PubMed ID: 30915365
[TBL] [Abstract][Full Text] [Related]
16. Novel genetic variants in the TPO gene cause congenital hypothyroidism.
Ma SG; Qiu YL; Zhu H; Liu H; Li Q; Ji CM
Scand J Clin Lab Invest; 2015; 75(8):633-7. PubMed ID: 26174974
[TBL] [Abstract][Full Text] [Related]
17. Screening and Functional Analysis of
Wang H; Wang W; Chen X; Shi H; Shi Y; Ding G
Front Endocrinol (Lausanne); 2021; 12():774941. PubMed ID: 35002963
[TBL] [Abstract][Full Text] [Related]
18. Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism.
Chiesa A; Rivolta CM; Targovnik HM; Gruñeiro-Papendieck L
Endocrine; 2010 Dec; 38(3):377-85. PubMed ID: 20972728
[TBL] [Abstract][Full Text] [Related]
19. Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.
Belforte FS; Miras MB; Olcese MC; Sobrero G; Testa G; Muñoz L; Gruñeiro-Papendieck L; Chiesa A; González-Sarmiento R; Targovnik HM; Rivolta CM
Clin Endocrinol (Oxf); 2012 Apr; 76(4):568-76. PubMed ID: 21981063
[TBL] [Abstract][Full Text] [Related]
20. Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism.
Fu C; Xie B; Zhang S; Wang J; Luo S; Zheng H; Su J; Hu X; Chen R; Fan X; Luo J; Gu X; Chen S
BMJ Open; 2016 May; 6(5):e010719. PubMed ID: 27173810
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
