230 related articles for article (PubMed ID: 26894573)
21. Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
Watanabe Y; Bruellman RJ; Ebrhim RS; Abdullah MA; Dumitrescu AM; Refetoff S; Weiss RE
Thyroid; 2019 Feb; 29(2):302-304. PubMed ID: 30375286
[TBL] [Abstract][Full Text] [Related]
22. [Association of thyroperoxidase gene polymorphisms with dyshormonogenesis in congenital hypothyroidism].
Su Y; Wang J; Zhou J; Chen Y; Zhao H; Zeng Y; Lin F; Zhang H; Zhu W; Chen H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Dec; 32(6):861-5. PubMed ID: 26663066
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism.
Matsuo K; Tanahashi Y; Mukai T; Suzuki S; Tajima T; Azuma H; Fujieda K
J Pediatr Endocrinol Metab; 2016 Jul; 29(7):807-12. PubMed ID: 27166716
[TBL] [Abstract][Full Text] [Related]
25. Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
Molina MF; Papendieck P; Sobrero G; Balbi VA; Belforte FS; Martínez EB; Adrover E; Olcese MC; Chiesa A; Miras MB; González VG; Pio MG; González-Sarmiento R; Targovnik HM; Rivolta CM
Endocrine; 2022 Jun; 77(1):86-101. PubMed ID: 35507000
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Novel
Furman A; Hannoush Z; Echegoyen FB; Dumitrescu A; Refetoff S; Weiss RE
Thyroid; 2021 Oct; 31(10):1589-1591. PubMed ID: 34128397
[TBL] [Abstract][Full Text] [Related]
28. Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma.
Raef H; Al-Rijjal R; Al-Shehri S; Zou M; Al-Mana H; Baitei EY; Parhar RS; Al-Mohanna FA; Shi Y
J Clin Endocrinol Metab; 2010 Mar; 95(3):1000-6. PubMed ID: 20089614
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.
Makretskaya N; Bezlepkina O; Kolodkina A; Kiyaev A; Vasilyev EV; Petrov V; Kalinenkova S; Malievsky O; Dedov II; Tiulpakov A
PLoS One; 2018; 13(9):e0204323. PubMed ID: 30240412
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Minimally invasive follicular thyroid carcinoma developed in dyshormonogenetic multinodular goiter due to thyroid peroxidase gene mutation.
Chertok Shacham E; Ishay A; Irit E; Pohlenz J; Tenenbaum-Rakover Y
Thyroid; 2012 May; 22(5):542-6. PubMed ID: 22435912
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. [The thyroid as a model for molecular mechanisms in genetic diseases].
Rivolta CM; Moya CM; Esperante SA; Gutnisky VJ; Varela V; Targovnik HM
Medicina (B Aires); 2005; 65(3):257-67. PubMed ID: 16042141
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. 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]
38. Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
Nicholas AK; Serra EG; Cangul H; Alyaarubi S; Ullah I; Schoenmakers E; Deeb A; Habeb AM; Almaghamsi M; Peters C; Nathwani N; Aycan Z; Saglam H; Bober E; Dattani M; Shenoy S; Murray PG; Babiker A; Willemsen R; Thankamony A; Lyons G; Irwin R; Padidela R; Tharian K; Davies JH; Puthi V; Park SM; Massoud AF; Gregory JW; Albanese A; Pease-Gevers E; Martin H; Brugger K; Maher ER; Chatterjee VK; Anderson CA; Schoenmakers N
J Clin Endocrinol Metab; 2016 Dec; 101(12):4521-4531. PubMed ID: 27525530
[TBL] [Abstract][Full Text] [Related]
39. A Novel Homozygous Mutation in the Solute Carrier Family 26 Member 7 Gene Causes Thyroid Dyshormonogenesis in a Girl with Congenital Hypothyroidism.
Hermanns P; Claßen C; Pohlenz J
Thyroid; 2020 Dec; 30(12):1831-1833. PubMed ID: 32486989
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
