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For: Muzza M, Rabbiosi S, Vigone MC, Zamproni I, Cirello V, Maffini MA, Maruca K, Schoenmakers N, Beccaria L, Gallo F, Park SM, Beck-Peccoz P, Persani L, Weber G, Fugazzola L. The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects. J Clin Endocrinol Metab. 2014;99:E544-E553. [PMID: 24423310 DOI: 10.1210/jc.2013-3618] [Cited by in Crossref: 54] [Cited by in F6Publishing: 43] [Article Influence: 6.0] [Reference Citation Analysis]
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14 Oliver-Petit I, Edouard T, Jacques V, Bournez M, Cartault A, Grunenwald S, Savagner F. Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis. Front Endocrinol (Lausanne) 2021;12:657913. [PMID: 34248839 DOI: 10.3389/fendo.2021.657913] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
15 Sasivari Z, Szinnai G, Seebauer B, Konrad D, Lang-Muritano M. Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report. J Pediatr Endocrinol Metab 2019;32:1299-303. [PMID: 31541602 DOI: 10.1515/jpem-2019-0051] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
16 Caiulo S, Corbetta C, Di Frenna M, Medda E, De Angelis S, Rotondi D, Vincenzi G, de Filippis T, Patricelli MG, Persani L, Barera G, Weber G, Olivieri A, Vigone MC. Newborn Screening for Congenital Hypothyroidism: the Benefit of Using Differential TSH Cutoffs in a 2-Screen Program. J Clin Endocrinol Metab 2021;106:e338-49. [PMID: 33124651 DOI: 10.1210/clinem/dgaa789] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
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18 Cirello V, Colombo C, Karapanou O, Pogliaghi G, Persani L, Fugazzola L. Clinical and Genetic Features of a Large Monocentric Series of Familial Non-Medullary Thyroid Cancers. Front Endocrinol (Lausanne) 2020;11:589340. [PMID: 33488516 DOI: 10.3389/fendo.2020.589340] [Reference Citation Analysis]
19 de Filippis T, Gelmini G, Paraboschi E, Vigone MC, Di Frenna M, Marelli F, Bonomi M, Cassio A, Larizza D, Moro M, Radetti G, Salerno M, Ardissino D, Weber G, Gentilini D, Guizzardi F, Duga S, Persani L. A frequent oligogenic involvement in congenital hypothyroidism. Hum Mol Genet 2017;26:2507-14. [PMID: 28444304 DOI: 10.1093/hmg/ddx145] [Cited by in Crossref: 62] [Cited by in F6Publishing: 54] [Article Influence: 12.4] [Reference Citation Analysis]
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23 Pio MG, Molina MF, Siffo S, Chiesa A, Rivolta CM, Targovnik HM. A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. Cell expression and bioinformatic analysis. Mol Cell Endocrinol 2021;522:111124. [PMID: 33321114 DOI: 10.1016/j.mce.2020.111124] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
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25 Santos-silva R, Rosário M, Grangeia A, Costa C, Castro-correia C, Alonso I, Leão M, Fontoura M. Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism. Journal of Pediatric Endocrinology and Metabolism 2019;32:1265-73. [DOI: 10.1515/jpem-2019-0047] [Cited by in Crossref: 12] [Cited by in F6Publishing: 9] [Article Influence: 4.0] [Reference Citation Analysis]
26 Medda E, Vigone MC, Cassio A, Calaciura F, Costa P, Weber G, de Filippis T, Gelmini G, Di Frenna M, Caiulo S, Ortolano R, Rotondi D, Bartolucci M, Gelsomino R, De Angelis S, Gabbianelli M, Persani L, Olivieri A. Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins? J Clin Endocrinol Metab 2019;104:5765-79. [PMID: 31287502 DOI: 10.1210/jc.2019-00900] [Cited by in Crossref: 14] [Cited by in F6Publishing: 9] [Article Influence: 7.0] [Reference Citation Analysis]
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30 Sun F, Fang Y, Zhang MM, Zhang RJ, Wu FY, Yang RM, Tu PH, Dong M, Zhao SX, Song HD. Genetic Manipulation on Zebrafish duox Recapitulate the Clinical Manifestations of Congenital Hypothyroidism. Endocrinology 2021;162:bqab101. [PMID: 34019632 DOI: 10.1210/endocr/bqab101] [Reference Citation Analysis]
31 Wang H, Kong X, Pei Y, Cui X, Zhu Y, He Z, Wang Y, Zhang L, Zhuo L, Chen C, Yan X. Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism. Mol Med Rep. 2020;22:297-309. [PMID: 32319661 DOI: 10.3892/mmr.2020.11078] [Cited by in Crossref: 2] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
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37 Peters C, Nicholas AK, Schoenmakers E, Lyons G, Langham S, Serra EG, Sebire NJ, Muzza M, Fugazzola L, Schoenmakers N. DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom. Thyroid 2019;29:790-801. [PMID: 31044655 DOI: 10.1089/thy.2018.0587] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 6.5] [Reference Citation Analysis]
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41 Molina MF, Papendieck P, Sobrero G, Balbi VA, Belforte FS, Martínez EB, Adrover E, Olcese MC, Chiesa A, Miras MB, González VG, Pio MG, González-Sarmiento R, Targovnik HM, Rivolta CM. Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis. Endocrine 2022. [PMID: 35507000 DOI: 10.1007/s12020-022-03054-3] [Reference Citation Analysis]
42 Jurickova I, Bonkowski E, Angerman E, Novak E, Huron A, Akers G, Iwasawa K, Braun T, Hadar R, Hooker M, Han S, Cutler DJ, Okou DT, Kugathasan S, Jegga A, Wells J, Takebe T, Mollen KP, Haberman Y, Denson LA. Eicosatetraynoic Acid and Butyrate Regulate Human Intestinal Organoid Mitochondrial and Extracellular Matrix Pathways Implicated in Crohn's Disease Strictures. Inflamm Bowel Dis 2022:izac037. [PMID: 35259271 DOI: 10.1093/ibd/izac037] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
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44 Persani L, Rurale G, de Filippis T, Galazzi E, Muzza M, Fugazzola L. Genetics and management of congenital hypothyroidism. Best Pract Res Clin Endocrinol Metab 2018;32:387-96. [PMID: 30086865 DOI: 10.1016/j.beem.2018.05.002] [Cited by in Crossref: 27] [Cited by in F6Publishing: 22] [Article Influence: 6.8] [Reference Citation Analysis]
45 Sun F, Zhang RJ, Cheng F, Fang Y, Yang RM, Ye XP, Han B, Zhao SX, Dong M, Song HD. Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects. Clin Genet 2021;100:713-21. [PMID: 34564849 DOI: 10.1111/cge.14065] [Reference Citation Analysis]
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47 Matsuo K, Tanahashi Y, Mukai T, Suzuki S, Tajima T, Azuma H, Fujieda K. High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. J Pediatr Endocrinol Metab 2016;29:807-12. [PMID: 27166716 DOI: 10.1515/jpem-2015-0400] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 3.2] [Reference Citation Analysis]
48 Belforte FS, Citterio CE, Testa G, Olcese MC, Sobrero G, Miras MB, Targovnik HM, Rivolta CM. Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis. Mol Cell Endocrinol 2016;419:172-84. [PMID: 26506010 DOI: 10.1016/j.mce.2015.10.014] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
49 Szanto I, Pusztaszeri M, Mavromati M. H2O2 Metabolism in Normal Thyroid Cells and in Thyroid Tumorigenesis: Focus on NADPH Oxidases. Antioxidants (Basel) 2019;8:E126. [PMID: 31083324 DOI: 10.3390/antiox8050126] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 3.7] [Reference Citation Analysis]