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Select item 110093011.

Deficiency of the HGF/Met pathway leads to thyroid dysgenesis by impeding late thyroid expansion

Ya Fang, Jia-Ping Wan, Zheng Wang, Shi-Yang Song, Cao-Xu Zhang, Liu Yang, Qian-Yue Zhang, Chen-Yan Yan, Feng-Yao Wu, Sang-Yu Lu, Feng Sun, Bing Han, Shuang-Xia Zhao, Mei Dong, Huai-Dong Song

Nat Commun. 2024; 15: 3165. Published online 2024 Apr 11. doi: 10.1038/s41467-024-47363-9

PMCID:: PMC11009301

Abstract Article PDF–12M

Select item 109268552.

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 108132363.

Inflammatory Profile Assessment in a Highly Selected Athyreotic Population Undergoing Controlled and Standardized Hypothyroidism

Tommaso Piticchio, Francesco Savarino, Salvatore Volpe, Antonio Prinzi, Gabriele Costanzo, Elena Gamarra, Francesco Frasca, Pierpaolo Trimboli

Biomedicines. 2024 Jan; 12(1): 239. Published online 2024 Jan 22. doi: 10.3390/biomedicines12010239

PMCID:: PMC10813236

Abstract Article PDF–1.5M

Select item 106081294.

Two Cases of Congenital Hypothyroidism Revealing Thyroid Agenesis

Leonard Năstase, Octaviana Cristea, Alexandra Diaconu, Silvia-Maria Stoicescu, Ramona Mohora, Bogdan Mihai Pascu, Simona Tania Tala, Ioana Roșca

Medicina (Kaunas) 2023 Oct; 59(10): 1887. Published online 2023 Oct 23. doi: 10.3390/medicina59101887

PMCID:: PMC10608129

Abstract Article PDF–1.1M

Select item 101187375.

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 99837966.

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 99788747.

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 97038098.

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 91452629.

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 914239910.

Resistance to thyroid hormone in a child with thyroid agenesis: A case report with review of the literature

Karzan M. Hasan, Bilal A. Mohammed, Shaho F. Ahmed, Rawa M. Ali, Berwn A. Abdulla, Soran H. Tahir, Fahmi H. Kakamad, Abdulwahid M. Salih

Ann Med Surg (Lond) 2022 May; 77: 103569. Published online 2022 Apr 6. doi: 10.1016/j.amsu.2022.103569

PMCID:: PMC9142399

Abstract Article PDF–798K

Select item 885994711.

A rare case of 46,XX gonadal dysgenesis, Mayer–Rokitansky–Kuster–Hauser syndrome, pituitary and thyroid hypoplasia

Rediet Ambachew, Amare Gulilat, Tewodros Aberra, Zewdu Terefework, Wubalem Bedilu, Getahun Tarekegn, Ahmed Reja

Endocrinol Diabetes Metab Case Rep. 2022; 2022: 21-0103. Published online 2022 Jan 13. doi: 10.1530/EDM-21-0103

PMCID:: PMC8859947

Abstract Article PDF–412K

Select item 822733312.

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 821540913.

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 802633814.

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 753452115.

Identification and functional characterization of a novel PAX8 mutation (p.His39Pro) causing familial thyroid hypoplasia

Megumi Iwahashi-Odano, Yasuko Fujisawa, Tsutomu Ogata, Shinichi Nakashima, Mayumi Muramatsu, Satoshi Narumi

Clin Pediatr Endocrinol. 2020; 29(4): 173–178. Published online 2020 Oct 3. doi: 10.1297/cpe.29.173

PMCID:: PMC7534521

Abstract Article PDF–2.4M

Select item 738973416.

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 721242917.

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 631196018.

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 628438719.

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 572778520.

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

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