Vassart G - Search Results

1

Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.

Abramowicz MJ, Targovnik HM, Varela V, Cochaux P, Krawiec L, Pisarev MA, Propato FV, Juvenal G, Chester HA, Vassart G. Abramowicz MJ, et al. Among authors: vassart g. J Clin Invest. 1992 Oct;90(4):1200-4. doi: 10.1172/JCI115981. J Clin Invest. 1992. PMID: 1401057 Free PMC article.

2

A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.

Ieiri T, Cochaux P, Targovnik HM, Suzuki M, Shimoda S, Perret J, Vassart G. Ieiri T, et al. Among authors: vassart g. J Clin Invest. 1991 Dec;88(6):1901-5. doi: 10.1172/JCI115513. J Clin Invest. 1991. PMID: 1752952 Free PMC article.

3

Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.

Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C. Abramowicz MJ, et al. Among authors: vassart g. J Clin Invest. 1997 Jun 15;99(12):3018-24. doi: 10.1172/JCI119497. J Clin Invest. 1997. PMID: 9185526 Free PMC article.

4

Thyroid peroxidase gene promoter confers TSH responsiveness to heterologous reporter genes in transfection experiments.

Abramowicz MJ, Vassart G, Christophe D. Abramowicz MJ, et al. Among authors: vassart g. Biochem Biophys Res Commun. 1990 Feb 14;166(3):1257-64. doi: 10.1016/0006-291x(90)91001-9. Biochem Biophys Res Commun. 1990. PMID: 2306241

5

Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism.

Medeiros-Neto G, Targovnik HM, Vassart G. Medeiros-Neto G, et al. Among authors: vassart g. Endocr Rev. 1993 Apr;14(2):165-83. doi: 10.1210/edrv-14-2-165. Endocr Rev. 1993. PMID: 8325250 Review.

6

A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger.

Targovnik HM, Medeiros-Neto G, Varela V, Cochaux P, Wajchenberg BL, Vassart G. Targovnik HM, et al. Among authors: vassart g. J Clin Endocrinol Metab. 1993 Jul;77(1):210-5. doi: 10.1210/jcem.77.1.8325944. J Clin Endocrinol Metab. 1993. PMID: 8325944

7

Human thyroid tissue do not express thyroalbumin.

Targovnik HM, Frechtel GD, Varela V, Wajchenberg BL, Vassart G, Dumont J, Medeiros-Neto GA. Targovnik HM, et al. Among authors: vassart g. J Endocrinol Invest. 1993 Jun;16(6):415-9. doi: 10.1007/BF03348869. J Endocrinol Invest. 1993. PMID: 8370916

8

Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism.

Targovnik HM, Frechtel GD, Mendive FM, Vono J, Cochaux P, Vassart G, Medeiros-Neto G. Targovnik HM, et al. Among authors: vassart g. Thyroid. 1998 Apr;8(4):291-7. doi: 10.1089/thy.1998.8.291. Thyroid. 1998. PMID: 9588493

9

Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.

Vilain C, Rydlewski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P, Renneboog B, Parma J, Costagliola S, Vassart G. Vilain C, et al. Among authors: vassart g. J Clin Endocrinol Metab. 2001 Jan;86(1):234-8. doi: 10.1210/jcem.86.1.7140. J Clin Endocrinol Metab. 2001. PMID: 11232006

10

Functional study of the human thyroid peroxidase gene promoter.

Abramowicz MJ, Vassart G, Christophe D. Abramowicz MJ, et al. Among authors: vassart g. Eur J Biochem. 1992 Feb 1;203(3):467-73. doi: 10.1111/j.1432-1033.1992.tb16571.x. Eur J Biochem. 1992. PMID: 1735431 Free article.

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