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Novel thyroid specific transcripts identified by SAGE: implication for congenital
hypothyroidism
Moreno Navarro, J.C.
Publication date
2003
Link to publication
Citation for published version (APA):
Moreno Navarro, J. C. (2003). Novel thyroid specific transcripts identified by SAGE:
implication for congenital hypothyroidism.
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Contents s
Chapterr 1 General introduction 11
1.11 Preface 13 1.22 Congenial hypothyroidism 17
1.33 Molecular basis of congenital hypothyroidism 19
1.44 Gaps and controversies 35 1.55 Strategies for CH-oriented research, the SAGE technique. 37
1.66 Scope of the Ihesis. 41
Chapterr 2 Cloning of tissue-specific genes using serial analysis of gene 53 expressionn and a novel computational substruction approach.
Chapterr 3 Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) 73 andd congenital hypothyroidism.
Chapterr 4 Cloning and characterization of the human iodotyrosine 93 dehalogenase. .
Chapterr 5 Cloning of NM41, a novel cystine-knot like protein preferentially 111 expressedd in the thyroid.
Chapterr 6 General Discussion 129
66 1 Preface. 131 6.22 Cloning of 'tissue-specfic genes' methodological considerations. 131
6.33 THOX2 defects <n CH patients: implications f
or thyroid basic research 134
6.44 THOX2 defects in CH patients: clinical imp.ications. 135
6.55 DEHAL1: a novel gene for an " phenotype 137
6.66 NM41; a cystine-knot like protein ?n the thyroid 138
Chapterr 7 Summaries 145
Samenvattingg in het Nederlands 147
Summaryy in English 149 Resumenn en Espanol 151
Appendix:: nucleotide and amino acid sequence 155
Curriculumm Vitae 159 Publicationss 161 Abbreviationss 163 Acknowledgementss 167
