237 related articles for article (PubMed ID: 24158420)
1. A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect.
Baş VN; Aycan Z; Cangul H; Kendall M; Ağladıoğlu SY; Çetinkaya S; Maher ER
J Pediatr Endocrinol Metab; 2014 Mar; 27(3-4):383-7. PubMed ID: 24158420
[TBL] [Abstract][Full Text] [Related]
2. Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families.
Ozbek MN; Uslu AB; Onenli-Mungan N; Yuksel B; Pohlenz J; Topaloglu AK
J Pediatr Endocrinol Metab; 2009 Nov; 22(11):1033-9. PubMed ID: 20101889
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.
Bougacha-Elleuch N; Charfi N; Miled N; Bouhajja H; Belguith N; Mnif M; Jaurge P; Chikhrouhou N; Ayadi H; Hachicha M; Abid M
Eur J Pediatr; 2015 Nov; 174(11):1491-501. PubMed ID: 25968604
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children.
Simm D; Pfarr N; Pohlenz J; Prawitt D; Dörr HG
Acta Paediatr; 2009 Jun; 98(6):1057-61. PubMed ID: 19243353
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community.
Cangul H; Aycan Z; Olivera-Nappa A; Saglam H; Schoenmakers NA; Boelaert K; Cetinkaya S; Tarim O; Bober E; Darendeliler F; Bas V; Demir K; Aydin BK; Kendall M; Cole T; Högler W; Chatterjee VK; Barrett TG; Maher ER
Clin Endocrinol (Oxf); 2013 Aug; 79(2):275-81. PubMed ID: 23236987
[TBL] [Abstract][Full Text] [Related]
11. Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.
Pfarr N; Borck G; Turk A; Napiontek U; Keilmann A; Müller-Forell W; Kopp P; Pohlenz J
J Clin Endocrinol Metab; 2006 Jul; 91(7):2678-81. PubMed ID: 16684826
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. The Missense Alteration A5T of the Thyroid Peroxidase Gene is Pathogenic and Associated with Mild Congenital Hypothyroidism.
Cangül H; Demir K; Babayiğit HÖ; Abacı A; Böber E
J Clin Res Pediatr Endocrinol; 2015 Sep; 7(3):238-41. PubMed ID: 26831560
[TBL] [Abstract][Full Text] [Related]
14. Screening for mutations of the human thyroid peroxidase gene in patients with congenital hypothyroidism.
Grüters A; Köhler B; Wolf A; Söling A; de Vijlder L; Krude H; Biebermann H
Exp Clin Endocrinol Diabetes; 1996; 104 Suppl 4():121-3. PubMed ID: 8981018
[TBL] [Abstract][Full Text] [Related]
15. Genetics and phenomics of hypothyroidism and goiter due to TPO mutations.
Ris-Stalpers C; Bikker H
Mol Cell Endocrinol; 2010 Jun; 322(1-2):38-43. PubMed ID: 20153806
[TBL] [Abstract][Full Text] [Related]
16. Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.
Mittal K; Rafiq MA; Rafiullah R; Harripaul R; Ali H; Ayaz M; Aslam M; Naeem F; Amin-Ud-Din M; Waqas A; So J; Rappold GA; Vincent JB; Ayub M
J Hum Genet; 2016 Oct; 61(10):867-872. PubMed ID: 27305979
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.
Stoupa A; Chaabane R; Guériouz M; Raynaud-Ravni C; Nitschke P; Bole-Feysot C; Mnif M; Ammar Keskes L; Hachicha M; Belguith N; Polak M; Carré A
Thyroid; 2018 Jul; 28(7):941-944. PubMed ID: 29790453
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates.
Deeb A; Elkadry I; Attia S; Al Suwaidi H; Obaid L; Schoenmakers NA
J Pediatr Endocrinol Metab; 2016 Jul; 29(7):801-6. PubMed ID: 27060741
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
