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Tiziana de Filippis, Federica Marelli, Maria Cristina Vigone, Marianna Di Frenna, Giovanna Weber, and Luca Persani

and thyroid dysgenesis [ 16 , 17 , 18 , 19 ]. Conclusions We identified novel heterozygous NKX2-1 frameshift mutations in 2 patients with atypical phenotypes of BLT syndrome: choreoathetosis associated with discrepant thyroid phenotypes

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Robert Opitz, Francesco Antonica, and Sabine Costagliola

Introduction Congenital hypothyroidism (CH) represents the most common congenital endocrine disorder in humans affecting approximately 1 of 2,000-4,000 live births [ 1 , 2 ]. The majority of CH cases are due to thyroid dysgenesis (TD), which

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Selwan Khamisi, Peter Lindgren, and F. Anders Karlsson

critical for thyroid hormone production, e.g. the sodium/iodide transporter, thyroid peroxidase, thyroid oxidase 2, thyroglobulin, and dehalogenase. About 80% of congenital hypothyroidism is not accompanied by goiter but due to thyroid dysgenesis. In this

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Cengiz Kara, Jamala Mammadova, Ümmet Abur, Cagri Gumuskaptan, Elif İzci Güllü, Ayhan Dağdemir, and Murat Aydın

(NIS), IYD and SLC26A7 . Also, monoallelic variants in DUOX2 and DUOXA2 can cause TCH. Thyroid dysgenesis (TD), now responsible for 60–65% of primary CH, refers to a phenotypic spectrum of aberrant thyroid gland development and includes athyreosis

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L.C. Cardoso-Weide, R.C. Cardoso-Penha, M.W. Costa, A.C.F. Ferreira, D.P. Carvalho, and P.S. Santisteban

the mechanisms involved in the regulation of this gene. Thus, the present study describes the effect of the main thyroid regulators and the role of transcriptional factors (TF) involved in thyroid dysgenesis on human thyroid DuOx2 promoter activity

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Sandra M. McLachlan, Holly A. Aliesky, Priscilla Garcia, Bianca Banuelos, and Basil Rapoport

, Leger J, Simon-Carre A, Lyonnet S, Pelet A, Czernichow P, Polak M: Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases. Pediatr Res 2005; 57: 908–913. 39

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Marek Niedziela, Nelly Sabbaghian, Leanne de Kock, and William D. Foulkes

largely been due to the number of patients examined in each study. A prevalence of 8% of ectopic thymus occurring in young children with congenital hypothyroidism related to thyroid dysgenesis was reported [ 16 ]. For these patients, abnormal thymus

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Tal Almagor, Shoshana Rath, Dan Nachtigal, Zohara Sharroni, Ghadir Elias-Assad, Ora Hess, Gilad Havazelet, Yoav Zehavi, Ronen Spiegel, Dani Bercovich, Shlomo Almashanu, and Yardena Tenenbaum-Rakover

. Results Characteristics of the patients diagnosed with CH are given in Table  1 . CH was caused by thyroid dysgenesis in 62% (agenesis or ectopic thyroid), dyshormonogenesis in 29% (thyroid peroxidase [ TPO ], TSH receptor [ TSHR ], or thyroglobulin

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Giorgio Radetti, Franco Rigon, Alessandro Salvatoni, Irene Campi, Tiziana De Filippis, Valentina Cirello, Silvia Longhi, Fabiana Guizzardi, Marco Bonomi, and Luca Persani

. ( ) 4 Grasberger H Ringkananont U Croxson M Refetoff S . Resistance to thyroid hormone in a patient with thyroid dysgenesis . Thyroid 2005 15 730 – 733 . ( ) 5

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Mikael Nilsson and Dillwyn Williams

: PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. J Clin Endocrinol Metab 2005;90:455-462. 10.1210/jc.2004-1358 15494458