Human Genome Epidemiology Literature Finder
Records 1 - 14 (of 14 Records) |
Query Trace: Goiter and TG[original query] |
---|
Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct. Journal of endocrinological investigation 2004 May 27 (5): 430-5. Bogazzi F, Russo D, Raggi F, Ultimieri F, Berrettini S, Forli F, Grasso L, Ceccarelli C, Mariotti S, Pinchera A, Bartalena L, Martino |
Sequencing of the entire coding region of the receptor associated protein (RAP) in patients with primary hypothyroidism of unknown origin. Journal of endocrinological investigation 2007 Nov 30 (10): 839-43. Lisi S, Botta R, Pinchera A, Di Cosmo C, Perri A, De Marco G, Menconi F, Marinò |
A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma. Journal of the National Cancer Institute 2009 Feb 101 (3): 162-75. Ngan Elly S W, Lang Brian H H, Liu Tingting, Shum Cathy K Y, So Man-Ting, Lau Danny K C, Leon Thomas Y Y, Cherny Stacey S, Tsai Sophia Y, Lo Chung-Yau, Khoo Ui-Soon, Tam Paul K H, Garcia-Barceló Maria-Mer |
Interleukin 1 beta (IL1beta) gene polymorphisms (SNP-511 and SNP+3953) in Hashimoto's thyroiditis among the Polish population. Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2014 Oct 122 (9): 544-7. Lacka K, Paradowska-Gorycka A, Maciejewski A, Kramer L, Herman W A, Lacki J |
A novel FoxD3 Variant Is Associated With Vitiligo and Elevated Thyroid Auto-Antibodies. The Journal of clinical endocrinology and metabolism 2015 Aug jc20152126. Schunter Jo Ana, Löffler Dennis, Wiesner Tobias, Kovacs Peter, Badenhoop Klaus, Aust Gabriela, Tönjes Anke, Müller Peter, Baber Ronny, Simon Jan C, Führer Dagmar, Pfäffle Roland W, Thiery Joachim, Stumvoll Michael, Kiess Wieland, Kratzsch Jürgen, Körner Ant |
A 20 year history of clinical and genetic study of thyroid autoimmunity in a Tunisian multigenerational family: Evidence for gene interaction. Meta gene 2015 1 2 63-71. Bougacha-Elleuch Noura, Charfi Nadia, Kharrat Najla, Ayadi Fatma, Maalej Abdellatif, Chabchoub Ghazi, Rebai Ahmed, Kammoun-Krichen Maha, Belguith-Maalej Salima, Abid Mohamed, Mnif Mouna, Ayadi Hamma |
Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism. Molecular and cellular endocrinology 2017 12 473 1-16. Siffo Sofia, Adrover Ezequiela, Citterio Cintia E, Miras Mirta B, Balbi Viviana A, Chiesa Ana, Weill Jacques, Sobrero Gabriela, González Verónica G, Papendieck Patricia, Martinez Elena Bueno, Gonzalez-Sarmiento Rogelio, Rivolta Carina M, Targovnik Héctor |
Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism. Journal of pediatric endocrinology & metabolism : JPEM 2019 8 32 (11): 1265-1273. Santos-Silva Rita, Rosário Marta, Grangeia Ana, Costa Carla, Castro-Correia Cíntia, Alonso Isabel, Leão Miguel, Fontoura Manu |
Newborn screening and single nucleotide variation profiling of TSHR, TPO, TG and DUOX2 candidate genes for congenital hypothyroidism. Molecular biology reports 2020 Sep . Kollati Yedukondalu, Akella Radha Rama Devi, Naushad Shaik Mohammad, Borkar Divya, Thalla Maunika, Nagalingam Swapna, Lingappa Lokesh, Patel Rajesh K, Reddy G Bhanuprakash, Dirisala Vijaya |
Antithyroid Antibody Status in Non-Pregnant Adult Bangladeshi Patients with Subclinical Hypothyroidism. Mymensingh medical journal : MMJ 2020 1 29 (1): 156-161. Rafiq-Uddin M, Kamrul-Hasan A B, Asaduzzaman M, Aminul-Islam A K, Islam M, Rauniyar B K, Hoque A, Mustari M, Fariduddin M, Hasanat M |
Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis. Frontiers in endocrinology 2021 7 12 657913. Oliver-Petit Isabelle, Edouard Thomas, Jacques Virginie, Bournez Marie, Cartault Audrey, Grunenwald Solange, Savagner Frédériq |
Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7. Journal of endocrinological investigation 2021 Nov . Acar S, Gürsoy S, Arslan G, Nalbanto?lu Ö, Hazan F, Köprülü Ö, Özkaya B, Özkan |
Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism. Endocrine 2022 9 79 (1): 125-134. Li Liangshan, Li Xiaole, Wang Xiaoyu, Han Mengmeng, Zhao Dehua, Wang Fang, Liu Shig |
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China. Clinica chimica acta; international journal of clinical chemistry 2023 6 547 117459. Ting Zhang, Yaping Shen, Yanhua Xu, Dingwen Wu, Chi Chen, Rulai Ya |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: