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Items: 1 to 20 of 359

1.
Functional characterization of novel compound heterozygous missense SLC5A5 gene variants causing congenital dyshormonogenic hypothyroidism
Gerardo Hernán Carro, Mariano Martín, Sofía Savy, Victoria Peyret, Romina Celeste Geysels, Francisco Andrés Montes, Carlos Eduardo Bernal Barquero, Valentina Ricci, María Eugenia Masnata, Ana María Masini-Repiso, Patricia Papendieck, Mariana Lorena Tellechea, Ana Elena Chiesa, Juan Pablo Nicola
Front Endocrinol (Lausanne) 2024; 15: 1465176. Published online 2024 Dec 19. doi: 10.3389/fendo.2024.1465176
PMCID:
PMC11693440
ArticlePDF–1.6M
2.
The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism
Jiani Du, Yanling Yang, Ding Wei, Jiajun Wu, Chunping Tian, Qianqian Hu, Hongyan Bian, Chen Cheng, Xiaoyan Zhai
Ann Med. 2025; 57(1): 2440121. Published online 2024 Dec 13. doi: 10.1080/07853890.2024.2440121
PMCID:
PMC11648137
ArticlePDF–1.1M
3.
Mitotically Active Follicular Nodule in Early Childhood: A Case Report with a Novel Mutation in the Thyroglobulin Gene
Sirmen Kızılcan Çetin, Zehra Aycan, Zeynep Şıklar, Serpil Dizbay Sak, Serdar Ceylaner, Elif Özsu, Merih Berberoğlu
J Clin Res Pediatr Endocrinol. 2024 Sep; 16(3): 340–343. Published online 2024 Sep 4. doi: 10.4274/jcrpe.galenos.2022.2022-8-20
PMCID:
PMC11590766
ArticlePDF–186K
4.
Disturbed function of TBL1X has a differential effect on T3-regulated gene expression in two human liver cell models
Yalan Hu, Lorraine Soares De Oliveira, Kim Falize, A S Paul van Trotsenburg, Eric Fliers, Joseph E Kaserman, Andrew A Wilson, Anthony N Hollenberg, Eveline Bruinstroop, Anita Boelen
Eur Thyroid J. 2024 Oct 1; 13(5): e240162. Prepublished online 2024 Sep 24. Published online 2024 Oct 14. doi: 10.1530/ETJ-24-0162
PMCID:
PMC11558919
ArticlePDF–667K
5.
Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up
Beatriz Carmona-Hidalgo, Estefanía Herrera-Ramos, Rocío Rodríguez-López, Laia Nou-Fontanet, José C. Moreno, Juan Antonio Blasco-Amaro, Juliane Léger, Juan Darío Ortigoza-Escobar, NKX2-1-Related Disorders Guideline Working Group
PLoS One. 2024; 19(10): e0309064. Published online 2024 Oct 28. doi: 10.1371/journal.pone.0309064
PMCID:
PMC11515955
ArticlePDF–850K
6.
Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR)
Diego Yeste, Noelia Baz-Redón, María Antolín, Elena Garcia-Arumí, Eduard Mogas, Ariadna Campos-Martorell, Núria González-Llorens, Cristina Aguilar-Riera, Laura Soler-Colomer, María Clemente, Mónica Fernández-Cancio, Núria Camats-Tarruella
Int J Mol Sci. 2024 Sep; 25(18): 10032. Published online 2024 Sep 18. doi: 10.3390/ijms251810032
PMCID:
PMC11432690
ArticlePDF–2.5M
7.
Clinical efficacy of multigene panels in the management of congenital hypothyroidism with gland in situ
Jisun Park, Eun Young Joo, Myung Ji Yoo, Su-Jin Kim, Woori Jang, Ji-Eun Lee
Medicine (Baltimore) 2024 Jul 19; 103(29): e38976. Published online 2024 Jul 19. doi: 10.1097/MD.0000000000038976
PMCID:
PMC11398833
ArticlePDF–609K
8.
Psychiatric disorders and comorbidity in women with Turner Syndrome: a retrospective national cohort study
Sofia Thunström, Ulla Wide, Kerstin Landin-Wilhelmsen, Kerstin Berntorp, Inger Bryman, Emily Krantz, Jeanette Wahlberg, Bertil Ekman, Magnus Isakson, Anders Karlsson, Ingrid Bergström, Sabine Naessén
Transl Psychiatry. 2024; 14: 355. Published online 2024 Sep 4. doi: 10.1038/s41398-024-02937-5
PMCID:
PMC11372165
ArticlePDF–668K
9.
Time-resolved interactome profiling deconvolutes secretory protein quality control dynamics
Madison T Wright, Bibek Timalsina, Valeria Garcia Lopez, Jake N Hermanson, Sarah Garcia, Lars Plate
Mol Syst Biol. 2024 Sep; 20(9): 1049–1075. Published online 2024 Aug 5. doi: 10.1038/s44320-024-00058-1
PMCID:
PMC11369088
ArticlePDF–3.1M
10.
Differential diagnosis of Huntington’s disease− neurological aspects of NKX2-1-related disorders
Julia Skwara, Maciej Nowicki, Lucia Sharif, Łukasz Milanowski, Jarosław Dulski, Ewelina Elert-Dobkowska, Katarzyna Skrzypek, Dorota Hoffman-Zacharska, Dariusz Koziorowski, Jarosław Sławek
J Neural Transm (Vienna) 2024; 131(9): 1013–1024. Published online 2024 Jun 25. doi: 10.1007/s00702-024-02800-3
PMCID:
PMC11365827
ArticlePDF–2.1M
11.
Normal Values for the fT3/fT4 Ratio: Centile Charts (0–29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay
Nina-Maria Wilpert, Roma Thamm, Michael Thamm, Jürgen Kratzsch, Dominik Seelow, Mandy Vogel, Heiko Krude, Markus Schuelke
Int J Mol Sci. 2024 Aug; 25(16): 8585. Published online 2024 Aug 6. doi: 10.3390/ijms25168585
PMCID:
PMC11354987
ArticlePDF–3.2M
12.
Human Genome and Diseases: Review¶The TSH receptor and its role in thyroid disease
P. Kopp
Cell Mol Life Sci. 2001 Aug; 58(9): 1301–1322. doi: 10.1007/PL00000941
PMCID:
PMC11337400
ArticlePDF–533K
13.
Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype–Phenotype Correlation
Noelia Baz-Redón, María Antolín, María Clemente, Ariadna Campos, Eduard Mogas, Mónica Fernández-Cancio, Elisenda Zafon, Elena García-Arumí, Laura Soler, Núria González-Llorens, Cristina Aguilar-Riera, Núria Camats-Tarruella, Diego Yeste
Int J Mol Sci. 2024 Aug; 25(15): 8473. Published online 2024 Aug 3. doi: 10.3390/ijms25158473
PMCID:
PMC11313534
ArticlePDF–660K
14.
Frequency of Mutations in the TPO Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile
María Clara Arteaga-Jacobo, Ángel Roco-Videla, Claudio Villota Arcos, Patricio González-Hormazábal, Víctor Gonzalo-Castro, María Virginia Pérez-Flores
Medicina (Kaunas) 2024 Jul; 60(7): 1145. Published online 2024 Jul 16. doi: 10.3390/medicina60071145
PMCID:
PMC11279067
ArticlePDF–2.1M
15.
Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center
Min Jeong Lee, Ji Soo Park, Kyunghoon Kim, Jung Min Ko, June Dong Park, Dong In Suh
Eur J Pediatr. 2024; 183(8): 3479–3487. Published online 2024 May 23. doi: 10.1007/s00431-024-05611-6
Correction in:
Eur J Pediatr. 2025; 184(1): 2.
PMCID:
PMC11263406
ArticlePDF–1.4M
16.
Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene
Mónica Fernández-Cancio, María Antolín, María Clemente, Ariadna Campos-Martorell, Eduard Mogas, Noelia Baz-Redón, Jordi Leno-Colorado, Gemma Comas-Armangué, Elena García-Arumí, Laura Soler-Colomer, Núria González-Llorens, Núria Camats-Tarruella, Diego Yeste
Front Endocrinol (Lausanne) 2024; 15: 1367808. Published online 2024 Jul 8. doi: 10.3389/fendo.2024.1367808
PMCID:
PMC11260715
ArticlePDF–910K
17.
Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis
Beatriz Carmona-Hidalgo, Carmen Martín-Gómez, Estefanía Herrera-Ramos, Rocío Rodríguez-López, Laia-Nou Fontanet, José C. Moreno, Juan Antonio Blasco-Amaro, Juliane Léger, Juan Dario-Ortigoza-Escobar, NKX2-1-Related Disorders Guideline Working Group
PLoS One. 2024; 19(7): e0303880. Published online 2024 Jul 11. doi: 10.1371/journal.pone.0303880
PMCID:
PMC11238965
ArticlePDF–945K
18.
Tamizaje neonatal en Colombia: la experiencia de un programa privado en Bogotá
Jaime E. Bernal, Martha Lucía Tamayo, Ignacio Briceño, Escilda Benavides
Biomedica. 2024 Mar; 44(1): 102–107. Spanish. Published online 2024 Mar 31. doi: 10.7705/biomedica.6911
PMCID:
PMC11210979
ArticlePDF–73K
19.
Mechanisms of thyrotropin receptor–mediated phenotype variability deciphered by gene mutations and M453T-knockin model
Kristiina Makkonen, Meeri Jännäri, Luís Crisóstomo, Matilda Kuusi, Konrad Patyra, Vladyslav Melnyk, Veli Linnossuo, Johanna Ojala, Rowmika Ravi, Christoffer Löf, Juho-Antti Mäkelä, Päivi Miettinen, Saila Laakso, Marja Ojaniemi, Jarmo Jääskeläinen, Markku Laakso, Filip Bossowski, Beata Sawicka, Karolina Stożek, Artur Bossowski, Gunnar Kleinau, Patrick Scheerer, FinnGen FinnGen, Mary Pat Reeve, Jukka Kero
JCI Insight. 2024 Feb 22; 9(4): e167092. Published online 2024 Jan 9. doi: 10.1172/jci.insight.167092
PMCID:
PMC11143923
ArticlePDF–20M
20.
Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report
Elisabetta Sciarroni, Lucia Montanelli, Caterina Di Cosmo, Brunella Bagattini, Simone Comi, Luisa Pignata, Alessandro Brancatella, Giuseppina De Marco, Eleonora Ferrarini, Chiara Nencetti, Maria Rita Sessa, Francesco Latrofa, Ferruccio Santini, Massimo Tonacchera, Patrizia Agretti
Ital J Pediatr. 2024; 50: 106. Published online 2024 May 29. doi: 10.1186/s13052-024-01672-3
PMCID:
PMC11137895
ArticlePDF–1.6M

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