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Select item 109268551.

JAG1 Variants Confer Genetic Susceptibility to Thyroid Dysgenesis and Thyroid Dyshormonogenesis in 813 Congenital Hypothyroidism in China

Miaomiao Li, Xiaoyu Wang, Fang Wang, Fengqi Wang, Dehua Zhao, Shiguo Liu

Int J Gen Med. 2024; 17: 885–894. Published online 2024 Mar 7. doi: 10.2147/IJGM.S445557

PMCID:: PMC10926855

Abstract Article PDF–3.4M

Select item 101187372.

Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis

Taíse Lima de Oliveira Cerqueira, Yanne Rocha Ramos, Giorgia Bruna Strappa, Mariana Souza de Jesus, Jailciele Gonzaga Santos, Camila Sousa, Gildásio Carvalho, Vladimir Fernandes, Ney Boa-Sorte, Tatiana Amorim, Thiago Magalhães Silva, Ana Marice Teixeira Ladeia, Angelina Xavier Acosta, Helton Estrela Ramos

Arch Endocrinol Metab. 2018 Jul-Aug; 62(4): 466–471. Published online 2018 Aug 1. doi: 10.20945/2359-3997000000065

PMCID:: PMC10118737

Abstract Article PDF–153K

Select item 99837963.

A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?

Roberto Franceschi, Evelina Maines, Maria Bellizzi, Francesca Rivieri, Andrea Bacca, Alessandra Filippi, Enza Maria Valente, Massimo Plumari, Massimo Soffiati, Monica Vincenzi, Francesca Teofoli, Marta Camilot

Arch Endocrinol Metab. 2023 Jan-Feb; 67(1): 143–149. Published online 2022 Dec 1. doi: 10.20945/2359-3997000000546

PMCID:: PMC9983796

Abstract Article PDF–325K

Select item 99788744.

Патогенные варианты гена <i>TSHR</i> у детей с дисгенезией щитовидной железы

Е. В. Шрёдер, Т. А. Вадина, Е. Н. Солодовникова, В. В. Захарова, М. В. Дегтярев, М. Б. Конюхова, Н. В. Сергеева, О. Б. Безлепкина

Probl Endokrinol (Mosk) 2023; 69(1): 76–85. Russian. Published online 2023 Feb 25. doi: 10.14341/probl13210

PMCID:: PMC9978874

Abstract Article PDF–670K

Select item 97038095.

GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling

Satoshi Narumi, Robert Opitz, Keisuke Nagasaki, Koji Muroya, Yumi Asakura, Masanori Adachi, Kiyomi Abe, Chiho Sugisawa, Peter Kühnen, Tomohiro Ishii, Markus M Nöthen, Heiko Krude, Tomonobu Hasegawa

Hum Mol Genet. 2022 Dec 1; 31(23): 3967–3974. Published online 2022 May 10. doi: 10.1093/hmg/ddac093

PMCID:: PMC9703809

Abstract Article PDF–924K

Select item 91452626.

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis

Stéphanie Larrivée-Vanier, Martineau Jean-Louis, Fabien Magne, Helen Bui, Guy A. Rouleau, Dan Spiegelman, Mark E. Samuels, Zoha Kibar, Guy Van Vliet, Johnny Deladoëy

Thyroid. May 2022; 32(5): 486–495. Published online 2022 May 17. doi: 10.1089/thy.2021.0597

PMCID:: PMC9145262

Abstract Article PDF–407K

Select item 82273337.

Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants in FOXE1, NKX2-5 and TSHR

Miguel Angel Alcántara-Ortigoza, Iraís Sánchez-Verdiguel, Liliana Fernández-Hernández, Sergio Enríquez-Flores, Aidy González-Núñez, Nancy Leticia Hernández-Martínez, Carmen Sánchez, Ariadna González-del Angel

Children (Basel) 2021 Jun; 8(6): 457. Published online 2021 May 30. doi: 10.3390/children8060457

PMCID:: PMC8227333

Abstract Article PDF–1.3M

Select item 82154098.

Congenital Hypothyroidism: Space–Time Clustering of Thyroid Dysgenesis Indicates a Role for Environmental Factors in Disease Etiology

Richard J.Q. McNally, Jeremy H. Jones, Mohamad Guftar Shaikh, Malcolm D.C. Donaldson, Karen Blakey, Tim D. Cheetham

Thyroid. June 2021; 31(6): 876–883. Published online 2021 Jun 8. doi: 10.1089/thy.2020.0005

PMCID:: PMC8215409

Abstract Article PDF–346K

Select item 80263389.

Thyroid imaging study in children with suspected thyroid dysgenesis

Sangwoo Chun, Young Seok Lee, Jeesuk Yu

Ann Pediatr Endocrinol Metab. 2021 Mar; 26(1): 53–59. Published online 2021 Mar 31. doi: 10.6065/apem.2040120.060

PMCID:: PMC8026338

Abstract Article PDF–461K

Select item 738973410.

山东地区儿童先天性甲状腺功能减低症伴甲状腺发育不全TUBB1基因突变的研究

孙春晖, 刘文淼, 李苗苗, 邹卉, 刘世国, 王芳

Zhongguo Dang Dai Er Ke Za Zhi. 2019 Oct 25; 21(10): 972–976. Chinese. doi: 10.7499/j.issn.1008-8830.2019.10.004

PMCID:: PMC7389734

Abstract Article PDF–1.6M

Select item 721242911.

DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism

Fengqi Wang, Yucui Zang, Miaomiao Li, Wenmiao Liu, Yangang Wang, Xiaolong Yu, Hua Li, Fang Wang, Shiguo Liu

Front Endocrinol (Lausanne) 2020; 11: 237. Published online 2020 Apr 21. doi: 10.3389/fendo.2020.00237

PMCID:: PMC7212429

Abstract Article PDF–440K

Select item 631196012.

Mutations in BOREALIN cause thyroid dysgenesis

Aurore Carré, Athanasia Stoupa, Dulanjalee Kariyawasam, Manelle Gueriouz, Cyrille Ramond, Taylor Monus, Juliane Léger, Sébastien Gaujoux, Frédéric Sebag, Nicolas Glaser, Delphine Zenaty, Patrick Nitschke, Christine Bole-Feysot, Laurence Hubert, Stanislas Lyonnet, Raphaël Scharfmann, Arnold Munnich, Claude Besmond, William Taylor, Michel Polak

Hum Mol Genet. 2017 Feb 1; 26(3): 599–610. Published online 2016 Dec 26. doi: 10.1093/hmg/ddw419

PMCID:: PMC6311960

Abstract Article PDF–1.5M

Select item 628438713.

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

Athanasia Stoupa, Frédéric Adam, Dulanjalee Kariyawasam, Catherine Strassel, Sanjay Gawade, Gabor Szinnai, Alexandre Kauskot, Dominique Lasne, Carsten Janke, Kathiresan Natarajan, Alain Schmitt, Christine Bole‐Feysot, Patrick Nitschke, Juliane Léger, Fabienne Jabot‐Hanin, Frédéric Tores, Anita Michel, Arnold Munnich, Claude Besmond, Raphaël Scharfmann, François Lanza, Delphine Borgel, Michel Polak, Aurore Carré

EMBO Mol Med. 2018 Dec; 10(12): e9569. Published online 2018 Nov 19. doi: 10.15252/emmm.201809569

PMCID:: PMC6284387

Abstract Article PDF–2.4M

Select item 572778514.

Does the Polymorphism in the Length of the Polyalanine Tract of FOXE1 Gene Influence the Risk of Thyroid Dysgenesis Occurrence?

Clebson Pantoja Pimentel, Erik Artur Cortinhas-Alves, Edivaldo Herculano Correa de Oliveira, Luiz Carlos Santana-da-Silva

J Thyroid Res. 2017; 2017: 2793205. Published online 2017 Nov 28. doi: 10.1155/2017/2793205

PMCID:: PMC5727785

Abstract Article PDF–686K

Select item 505003115.

Somatic Mutations Are Not Observed by Exome Sequencing of Lymphocyte DNA from Monozygotic Twins Discordant for Congenital Hypothyroidism due to Thyroid Dysgenesis

Fabien Magne, Roman Serpa, Guy Van Vliet, Mark E. Samuels, Johnny Deladoëy

Horm Res Paediatr. Author manuscript; available in PMC 2016 Oct 4.

Published in final edited form as: Horm Res Paediatr. 2015; 83(2): 79–85. Published online 2014 Sep 23. doi: 10.1159/000365393

PMCID:: PMC5050031

Abstract Article PDF–594K

Select item 480504416.

Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis

Shiguo Liu, Jian Chai, Guohua Zheng, Huichao Li, Deguo Lu, Yinlin Ge

J Clin Res Pediatr Endocrinol. 2016 Mar; 8(1): 21–25. Published online 2016 Mar 1. doi: 10.4274/jcrpe.2456

PMCID:: PMC4805044

Abstract Article PDF–104K

Select item 463768717.

A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis

Hui Zou, Jian Chai, Shiguo Liu, Hongwei Zang, Xiaoxia Yu, Liping Tian, Huichao Li, Bingjuan Han

Int J Clin Exp Pathol. 2015; 8(9): 11434–11439. Published online 2015 Sep 1.

PMCID:: PMC4637687

Abstract Article PDF–543K

Select item 443655718.

Advanced maternal age in Indian children with thyroid dysgenesis

Devi Dayal, L Sindhuja, Anish Bhattacharya, Bhavneet Bharti

Clin Pediatr Endocrinol. 2015 Apr; 24(2): 59–62. Published online 2015 May 15. doi: 10.1297/cpe.24.59

PMCID:: PMC4436557

Abstract Article PDF–394K

Select item 427240219.

Functional Zebrafish Studies Based on Human Genotyping Point to Netrin-1 as a Link Between Aberrant Cardiovascular Development and Thyroid Dysgenesis

Robert Opitz, Marc-Philip Hitz, Isabelle Vandernoot, Achim Trubiroha, Rasha Abu-Khudir, Mark Samuels, Valérie Désilets, Sabine Costagliola, Gregor Andelfinger, Johnny Deladoëy

Endocrinology. 2015 Jan; 156(1): 377–388. Published online 2014 Oct 29. doi: 10.1210/en.2014-1628

PMCID:: PMC4272402

Abstract Article

Select item 426687720.

Agenesis and not ectopia is common in North Indian children with thyroid dysgenesis

Devi Dayal, L. Sindhuja, Anish Bhattacharya, Kushaljit Singh Sodhi, Naresh Sachdeva

Indian J Endocrinol Metab. 2014 Nov; 18(Suppl 1): S97–S99. doi: 10.4103/2230-8210.145080

PMCID:: PMC4266877

Abstract Article PDF–322K

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PMC Articles for MedGen (Select 289647) (143)
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MULTISPECIES: fimbrial protein [unclassified Lelliottia]
MULTISPECIES: fimbrial protein [unclassified Lelliottia]
gi|2505085088|ref|WP_282495014.1|

Protein
MULTISPECIES: cell division activator CedA [unclassified Lelliottia]
MULTISPECIES: cell division activator CedA [unclassified Lelliottia]
gi|2505085095|ref|WP_282495021.1|

Protein
Abnormality of the thyroid gland
Abnormality of the thyroid gland

MedGen
Rhodococcus jostii
Rhodococcus jostii

Genome

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