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Molecular and clinical characteristics of pediatric patients with primary congenital hypothyroidism: novel genetic variants and the genotype-phenotype association
Zhang, Cheng-Cheng, Zhang, Wen-Ting, Chen, Li-Hua, Deng, Mei, Tian, Jing-Li, Liu, Rui, Ma, Jing-Jing, Huang, Xiao-Ling, Song, Yuan-Zong
Published in Clinica chimica acta (15.08.2025)
Published in Clinica chimica acta (15.08.2025)
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Journal Article
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism
Makretskaya, Nina, Bezlepkina, Olga, Kolodkina, Anna, Kiyaev, Alexey, Vasilyev, Evgeny V., Petrov, Vasily, Kalinenkova, Svetlana, Malievsky, Oleg, Dedov, Ivan I., Tiulpakov, Anatoly
Published in PloS one (21.09.2018)
Published in PloS one (21.09.2018)
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Journal Article
Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach
Abe, Kiyomi, Narumi, Satoshi, Suwanai, Ayuko S., Adachi, Masanori, Muroya, Koji, Asakura, Yumi, Nagasaki, Keisuke, Abe, Takayuki, Hasegawa, Tomonobu
Published in European journal of endocrinology (01.02.2018)
Published in European journal of endocrinology (01.02.2018)
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Journal Article
High Frequency of DUOX2 Mutations in Transient or Permanent Congenital Hypothyroidism with Eutopic Thyroid Glands
Jin, Hye Young, Heo, Sun-Hee, Kim, Yoo-Mi, Kim, Gu-Hwan, Choi, Jin-Ho, Lee, Beom-Hee, Yoo, Han-Wook
Published in Hormone research in paediatrics (01.01.2014)
Published in Hormone research in paediatrics (01.01.2014)
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Journal Article
Increased Expression of TSH Receptor by Fibrocytes in Thyroid-Associated Ophthalmopathy Leads to Chemokine Production
Gillespie, Erin F., Papageorgiou, Konstantinos I., Fernando, Roshini, Raychaudhuri, Nupur, Cockerham, Kimberly P., Charara, Laya K., Goncalves, Allan C. P., Zhao, Shuang-Xia, Ginter, Anna, Lu, Ying, Smith, Terry J., Douglas, Raymond S.
Published in The journal of clinical endocrinology and metabolism (01.05.2012)
Published in The journal of clinical endocrinology and metabolism (01.05.2012)
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Journal Article
Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review
Chiesa, Ana E., Tellechea, Mariana L.
Published in Frontiers in endocrinology (Lausanne) (18.08.2021)
Published in Frontiers in endocrinology (Lausanne) (18.08.2021)
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Journal Article
Mild TSH resistance: Clinical and hormonal features in childhood and adulthood
Vigone, Maria Cristina, Di Frenna, Marianna, Guizzardi, Fabiana, Gelmini, Giulia, Filippis, Tiziana, Mora, Stefano, Caiulo, Silvana, Sonnino, Micol, Bonomi, Marco, Persani, Luca, Weber, Giovanna
Published in Clinical endocrinology (Oxford) (01.11.2017)
Published in Clinical endocrinology (Oxford) (01.11.2017)
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Journal Article
Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves’ disease
Brand, Oliver J., Barrett, Jeffrey C., Simmonds, Matthew J., Newby, Paul R., McCabe, Christopher J., Bruce, Christopher K., Kysela, Boris, Carr-Smith, Jackie D., Brix, Thomas, Hunt, Penny J., Wiersinga, Wilmar M., Hegedüs, Laszlo, Connell, John, Wass, John A.H., Franklyn, Jayne A., Weetman, Anthony P., Heward, Joanne M., Gough, Stephen C.L.
Published in Human molecular genetics (01.05.2009)
Published in Human molecular genetics (01.05.2009)
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Journal Article
Frequent TSH Receptor Genetic Alterations with Variable Signaling Impairment in a Large Series of Children with Nonautoimmune Isolated Hyperthyrotropinemia
Calebiro, Davide, Gelmini, Giulia, Cordella, Daniela, Bonomi, Marco, Winkler, Franziska, Biebermann, Heike, de Marco, Alessandro, Marelli, Federica, Libri, Domenico V., Antonica, Francesco, Vigone, Maria Cristina, Cappa, Marco, Mian, Caterina, Sartorio, Alessandro, Beck-Peccoz, Paolo, Radetti, Giorgio, Weber, Giovanna, Persani, Luca
Published in The journal of clinical endocrinology and metabolism (01.01.2012)
Published in The journal of clinical endocrinology and metabolism (01.01.2012)
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Journal Article
Effects of serum TSH and FT4 levels and the TSHR-Asp727Glu polymorphism on bone: the Rotterdam Study
Van Der Deure, Wendy M., Uitterlinden, André G., Hofman, Albert, Rivadeneira, Fernando, Pols, Huibert A. P., Peeters, Robin P., Visser, Theo J.
Published in Clinical endocrinology (Oxford) (01.02.2008)
Published in Clinical endocrinology (Oxford) (01.02.2008)
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Journal Article
Novel presentation of the c.1856A > G (p.Asp619Gly) TSHR gene-activating variant: relapsing hyperthyroidism in three subsequent generations manifesting in early childhood and an in vitro functional study
Bezdicka, Martin, Kleiblova, Petra, Soucek, Jiri, Borecka, Marianna, El-Lababidi, Eva, Smrz, Daniel, Rataj, Michal, Sumnik, Zdenek, Malikova, Jana, Soucek, Ondrej
Published in Hormones (Athens, Greece) (01.12.2021)
Published in Hormones (Athens, Greece) (01.12.2021)
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Journal Article
Blocking mitochondrial cyclophilin D ameliorates TSH-impaired defensive barrier of artery
Liu, Xiaojing, Du, Heng, Chai, Qiang, jia, Qing, Liu, Lu, Zhao, Meng, Li, Jun, Tang, Hui, Chen, Wenbin, Zhao, Lifang, Fang, Li, Gao, Ling, Zhao, Jiajun
Published in Redox biology (01.05.2018)
Published in Redox biology (01.05.2018)
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Journal Article
Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism
Gozu, Hulya Iliksu, Lublinghoff, Julia, Bircan, Rifat, Paschke, Ralf
Published in Molecular and cellular endocrinology (30.06.2010)
Published in Molecular and cellular endocrinology (30.06.2010)
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Journal Article
TSHR Mutations as a Cause of Congenital Hypothyroidism in Japan: A Population-Based Genetic Epidemiology Study
Narumi, Satoshi, Muroya, Koji, Abe, Yoichiro, Yasui, Masato, Asakura, Yumi, Adachi, Masanori, Hasegawa, Tomonobu
Published in The journal of clinical endocrinology and metabolism (01.04.2009)
Published in The journal of clinical endocrinology and metabolism (01.04.2009)
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Journal Article
Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene
Satoh, Mari, Aso, Keiko, Ogikubo, Sayaka, Yoshizawa-Ogasawara, Atsuko, Saji, Tsutomu
Published in Journal of Pediatric Endocrinology & Metabolism (01.05.2015)
Published in Journal of Pediatric Endocrinology & Metabolism (01.05.2015)
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Journal Article
Subclinical Hypothyroidism in Children and Adolescents: A Wide Range of Clinical, Biochemical, and Genetic Factors Involved
Rapa, Anna, Monzani, Alice, Moia, Stefania, Vivenza, Daniela, Bellone, Simonetta, Petri, Antonella, Teofoli, Francesca, Cassio, Alessandra, Cesaretti, Graziano, Corrias, Andrea, de Sanctis, Vincenzo, Di Maio, Salvatore, Volta, Cecilia, Wasniewska, Malgorzata, Tatò, Luciano, Bona, Gianni
Published in The journal of clinical endocrinology and metabolism (01.07.2009)
Published in The journal of clinical endocrinology and metabolism (01.07.2009)
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Journal Article
Screening for membrane hormone receptor expression in primary aldosteronism
Zwermann, O, Suttmann, Y, Bidlingmaier, M, Beuschlein, F, Reincke, M
Published in European journal of endocrinology (01.03.2009)
Published in European journal of endocrinology (01.03.2009)
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Journal Article
Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis
Cerqueira, Taíse Lima de Oliveira, Ramos, Yanne Rocha, Strappa, Giorgia Bruna, Jesus, Mariana Souza de, Santos, Jailciele Gonzaga, Sousa, Camila, Carvalho, Gildásio, Fernandes, Vladimir, Boa-Sorte, Ney, Amorim, Tatiana, Silva, Thiago Magalhães, Ladeia, Ana Marice Teixeira, Acosta, Angelina Xavier, Ramos, Helton Estrela
Published in Archives of Endocrinology and Metabolism (01.08.2018)
Published in Archives of Endocrinology and Metabolism (01.08.2018)
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Journal Article
A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect
Simmonds, Matthew J., Howson, Joanna M.M., Heward, Joanne M., Carr-Smith, Jackie, Franklyn, Jayne A., Todd, John A., Gough, Stephen C.L.
Published in Human molecular genetics (15.09.2007)
Published in Human molecular genetics (15.09.2007)
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Journal Article