248 related articles for article (PubMed ID: 35507000)
1. 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]
2. Genetic Evaluation of Congenital Hypothyroidism with Gland
Shin JH; Kim HY; Kim YM; Lee H; Bae MH; Park KH; Lee SM; Kwak MJ
Ann Clin Lab Sci; 2021 Jan; 51(1):73-81. PubMed ID: 33653783
[TBL] [Abstract][Full Text] [Related]
3. Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.
Long W; Lu G; Zhou W; Yang Y; Zhang B; Zhou H; Jiang L; Yu B
Endocr J; 2018 Oct; 65(10):1019-1028. PubMed ID: 30022773
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Newborn screening and single nucleotide variation profiling of TSHR, TPO, TG and DUOX2 candidate genes for congenital hypothyroidism.
Kollati Y; Akella RRD; Naushad SM; Borkar D; Thalla M; Nagalingam S; Lingappa L; Patel RK; Reddy GB; Dirisala VR
Mol Biol Rep; 2020 Oct; 47(10):7467-7475. PubMed ID: 32930933
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism.
Tanaka T; Aoyama K; Suzuki A; Saitoh S; Mizuno H
J Pediatr Endocrinol Metab; 2020 May; 33(6):691-701. PubMed ID: 32469330
[TBL] [Abstract][Full Text] [Related]
9. [Genetic analysis of TPO, DUOX2 and DUOXA2 genes in children with permanent congenital hypothyroidism suspected dyshormonogenesis].
Huang YL; Tan MY; Jiang X; Li B; Chen QY; Jia XF; Tang CF; Liu JL; Liu L
Zhonghua Er Ke Za Zhi; 2017 Mar; 55(3):210-214. PubMed ID: 28273705
[No Abstract] [Full Text] [Related]
10. 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]
11. Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.
Oliver-Petit I; Edouard T; Jacques V; Bournez M; Cartault A; Grunenwald S; Savagner F
Front Endocrinol (Lausanne); 2021; 12():657913. PubMed ID: 34248839
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
Sun F; Zhang JX; Yang CY; Gao GQ; Zhu WB; Han B; Zhang LL; Wan YY; Ye XP; Ma YR; Zhang MM; Yang L; Zhang QY; Liu W; Guo CC; Chen G; Zhao SX; Song KY; Song HD
Eur J Endocrinol; 2018 Jun; 178(6):623-633. PubMed ID: 29650690
[TBL] [Abstract][Full Text] [Related]
14. Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7.
Acar S; Gürsoy S; Arslan G; Nalbantoğlu Ö; Hazan F; Köprülü Ö; Özkaya B; Özkan B
J Endocrinol Invest; 2022 Apr; 45(4):773-786. PubMed ID: 34780050
[TBL] [Abstract][Full Text] [Related]
15. Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.
Wang H; Kong X; Pei Y; Cui X; Zhu Y; He Z; Wang Y; Zhang L; Zhuo L; Chen C; Yan X
Mol Med Rep; 2020 Jul; 22(1):297-309. PubMed ID: 32319661
[TBL] [Abstract][Full Text] [Related]
16. Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism.
Santos-Silva R; Rosário M; Grangeia A; Costa C; Castro-Correia C; Alonso I; Leão M; Fontoura M
J Pediatr Endocrinol Metab; 2019 Nov; 32(11):1265-1273. PubMed ID: 31430255
[TBL] [Abstract][Full Text] [Related]
17. Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population.
Huang M; Lu X; Dong G; Li J; Chen C; Yu Q; Li M; Su Y
Front Endocrinol (Lausanne); 2021; 12():695426. PubMed ID: 34276565
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.
Zou M; Alzahrani AS; Al-Odaib A; Alqahtani MA; Babiker O; Al-Rijjal RA; BinEssa HA; Kattan WE; Al-Enezi AF; Al Qarni A; Al-Faham MSA; Baitei EY; Alsagheir A; Meyer BF; Shi Y
J Clin Endocrinol Metab; 2018 May; 103(5):1889-1898. PubMed ID: 29546359
[TBL] [Abstract][Full Text] [Related]
20. Genetics of primary congenital hypothyroidism-a review.
Kostopoulou E; Miliordos K; Spiliotis B
Hormones (Athens); 2021 Jun; 20(2):225-236. PubMed ID: 33400193
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]