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Select item 116934401.

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

Article PDF–1.6M

Select item 116758742.

Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases

Tatiana Kyian, Artem Borovikov, Inga Anisimova, Oksana Ryzhkova, Maria Bulakh, Elizabeth Bragina, Maria Avakyan, Anna Demchenko, Victoria Zabnenkova, Victor Kovalev, Artem Bukhonin, Elena Kondratyeva, Sergey Kutsev

Genes (Basel) 2024 Dec; 15(12): 1633. Published online 2024 Dec 20. doi: 10.3390/genes15121633

PMCID:: PMC11675874

Article PDF–2.4M

Select item 116481373.

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

Article PDF–1.1M

Select item 116043564.

A Case of Osteitis Fibrosa Cystica of the Mandible: A Rare Presentation during Pregnancy due to CDC73 Mutation

Pratibha Pawal, Anand Nikalje, Yash Chauhan, Premlata Varthakavi, Nikhil Bhagwat

J ASEAN Fed Endocr Soc. 2024; 39(2): 112–118. Published online 2024 Sep 3. doi: 10.15605/jafes.039.02.17

PMCID:: PMC11604356

Article PDF–2.0M

Select item 115907165.

Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene

Basma Haris, Idris Mohammed, Umm-Kulthum Ismail Umlai, Diksha Shirodkar, Khalid Hussain

J Clin Res Pediatr Endocrinol. 2024 May; 16(2): 229–234. Published online 2024 May 31. doi: 10.4274/jcrpe.galenos.2022.2022-5-9

PMCID:: PMC11590716

Article PDF–484K

Select item 115159556.

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

Article PDF–850K

Select item 114913527.

The clinical and genetic aspects of six individuals with GH1 variants and isolated growth hormone deficiency type II

Xiaozhen Huang, Hong Chen, Huakun Shangguan, Wenyong Wu, Zhuanzhuan Ai, Zhifeng Chen, Ruimin Chen

Front Endocrinol (Lausanne) 2024; 15: 1363050. Published online 2024 Oct 7. doi: 10.3389/fendo.2024.1363050

PMCID:: PMC11491352

Article PDF–13M

Select item 114326908.

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

Article PDF–2.5M

Select item 113988339.

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

Article PDF–609K

Select item 1139583610.

GH receptor polymorphisms guide second-line therapies to prevent acromegaly skeletal fragility: preliminary results of a pilot study

Sabrina Chiloiro, Flavia Costanza, Antonella Giampietro, Amato Infante, Pier Paolo Mattogno, Flavia Angelini, Consolato Gullì, Liverana Lauretti, Mario Rigante, Alessandro Olivi, Laura De Marinis, Francesco Doglietto, Antonio Bianchi, Alfredo Pontecorvi

Front Endocrinol (Lausanne) 2024; 15: 1414101. Published online 2024 Aug 30. doi: 10.3389/fendo.2024.1414101

PMCID:: PMC11395836

Article PDF–808K

Select item 1137148911.

Transcriptional and morphological responses following distinct muscle contraction protocols for Snell dwarf (Pit1^dw/dw) mice

Erik P. Rader, Kimberly A. McKinstry, Brent A. Baker

Physiol Rep. 2024 Sep; 12(17): e70027. Published online 2024 Sep 3. doi: 10.14814/phy2.70027

PMCID:: PMC11371489

Article PDF–7.0M

Select item 1136908812.

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

Article PDF–3.1M

Select item 1136582713.

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

Article PDF–2.1M

Select item 1135498714.

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

Article PDF–3.2M

Select item 1131353415.

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

Article PDF–660K

Select item 1127906716.

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

Article PDF–2.1M

Select item 1126071517.

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

Article PDF–910K

Select item 1123896518.

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

Article PDF–945K

Select item 1121097919.

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

Article PDF–73K

Select item 1113789520.

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