Kopp P - Search Results

1

Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.

Vono-Toniolo J, Kopp P. Vono-Toniolo J, et al. Among authors: kopp p. Arq Bras Endocrinol Metabol. 2004 Feb;48(1):70-82. doi: 10.1590/s0004-27302004000100009. Epub 2004 Jun 1. Arq Bras Endocrinol Metabol. 2004. PMID: 15611820 Review.

2

Congenital nonautoimmune hyperthyroidism in a nonidentical twin caused by a sporadic germline mutation in the thyrotropin receptor gene.

Kopp P, Jameson JL, Roe TF. Kopp P, et al. Thyroid. 1997 Oct;7(5):765-70. doi: 10.1089/thy.1997.7.765. Thyroid. 1997. PMID: 9349581

3

A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.

Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P. Congdon T, et al. Among authors: kopp p. J Clin Endocrinol Metab. 2001 Aug;86(8):3962-7. doi: 10.1210/jcem.86.8.7765. J Clin Endocrinol Metab. 2001. PMID: 11502839

4

The TSH receptor and its role in thyroid disease.

Kopp P. Kopp P. Cell Mol Life Sci. 2001 Aug;58(9):1301-22. doi: 10.1007/pl00000941. Cell Mol Life Sci. 2001. PMID: 11577986 Review.

5

Pendred's syndrome and genetic defects in thyroid hormone synthesis.

Kopp P. Kopp P. Rev Endocr Metab Disord. 2000 Jan;1(1-2):109-21. doi: 10.1023/a:1010024722595. Rev Endocr Metab Disord. 2000. PMID: 11704986 Review. No abstract available.

6

Genetic regulation of thyroid development.

Gillam MP, Kopp P. Gillam MP, et al. Among authors: kopp p. Curr Opin Pediatr. 2001 Aug;13(4):358-63. doi: 10.1097/00008480-200108000-00013. Curr Opin Pediatr. 2001. PMID: 11717563 Review.

7

Genetic defects in thyroid hormone synthesis.

Gillam MP, Kopp P. Gillam MP, et al. Among authors: kopp p. Curr Opin Pediatr. 2001 Aug;13(4):364-72. doi: 10.1097/00008480-200108000-00014. Curr Opin Pediatr. 2001. PMID: 11717564 Review.

8

Perspective: genetic defects in the etiology of congenital hypothyroidism.

Kopp P. Kopp P. Endocrinology. 2002 Jun;143(6):2019-24. doi: 10.1210/endo.143.6.8864. Endocrinology. 2002. PMID: 12021164 Review.

9

Naturally occurring mutations in the thyroglobulin gene.

Vono-Toniolo J, Rivolta CM, Targovnik HM, Medeiros-Neto G, Kopp P. Vono-Toniolo J, et al. Among authors: kopp p. Thyroid. 2005 Sep;15(9):1021-33. doi: 10.1089/thy.2005.15.1021. Thyroid. 2005. PMID: 16187910 Review.

10

The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.

Pardo V, Vono-Toniolo J, Rubio IG, Knobel M, Possato RF, Targovnik HM, Kopp P, Medeiros-Neto G. Pardo V, et al. Among authors: kopp p. J Clin Endocrinol Metab. 2009 Aug;94(8):2938-44. doi: 10.1210/jc.2009-0150. Epub 2009 Jun 9. J Clin Endocrinol Metab. 2009. PMID: 19509106

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