333 related articles for article (PubMed ID: 31430255)
1. 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]
2. 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]
3. Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population.
Liu S; Wang X; Zou H; Ge Y; Wang F; Wang Y; Yan S; Xia H; Xing M
Oncotarget; 2017 Jan; 8(5):8707-8716. PubMed ID: 28060725
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.
Löf C; Patyra K; Kuulasmaa T; Vangipurapu J; Undeutsch H; Jaeschke H; Pajunen T; Kero A; Krude H; Biebermann H; Kleinau G; Kühnen P; Rantakari K; Miettinen P; Kirjavainen T; Pursiheimo JP; Mustila T; Jääskeläinen J; Ojaniemi M; Toppari J; Ignatius J; Laakso M; Kero J
Thyroid; 2016 Sep; 26(9):1215-24. PubMed ID: 27373559
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
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. 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]
12. 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]
13. 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]
14. 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]
15. Genetics of Gland-
Zdraveska N; Kocova M; Nicholas AK; Anastasovska V; Schoenmakers N
Front Endocrinol (Lausanne); 2020; 11():413. PubMed ID: 32765423
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. 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]
20. Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
Camats N; Baz-Redón N; Fernández-Cancio M; Clemente M; Campos-Martorell A; Jaimes N; Antolín M; Garcia-Arumí E; Blasco-Pérez L; Paramonov I; Mogas E; Soler-Colomer L; Yeste D
J Clin Endocrinol Metab; 2021 Jan; 106(1):e152-e170. PubMed ID: 33029631
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
