Vassart G - Search Results

1

A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene.

Bretones P, Duprez L, Parma J, David M, Vassart G, Rodien P. Bretones P, et al. Among authors: vassart g. Thyroid. 2001 Oct;11(10):977-80. doi: 10.1089/105072501753211064. Thyroid. 2001. PMID: 11716047

2

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.

3

The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor.

Tiosano D, Pannain S, Vassart G, Parma J, Gershoni-Baruch R, Mandel H, Lotan R, Zaharan Y, Pery M, Weiss RE, Refetoff S, Hochberg Z. Tiosano D, et al. Among authors: vassart g. Thyroid. 1999 Sep;9(9):887-94. doi: 10.1089/thy.1999.9.887. Thyroid. 1999. PMID: 10524567

4

Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-beta subunit gene.

Heinrichs C, Parma J, Scherberg NH, Delange F, Van Vliet G, Duprez L, Bourdoux P, Bergmann P, Vassart G, Refetoff S. Heinrichs C, et al. Among authors: vassart g. Thyroid. 2000 May;10(5):387-91. doi: 10.1089/thy.2000.10.387. Thyroid. 2000. PMID: 10884185

5

Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene.

Kopp P, van Sande J, Parma J, Duprez L, Gerber H, Joss E, Jameson JL, Dumont JE, Vassart G. Kopp P, et al. Among authors: vassart g. N Engl J Med. 1995 Jan 19;332(3):150-4. doi: 10.1056/NEJM199501193320304. N Engl J Med. 1995. PMID: 7800007 Free article. No abstract available.

6

Activating mutations of the TSH receptor gene cause thyroid diseases.

Vassart G, Van Sande J, Parma J, Tonacchera M, Duprez L, Swillens S, Dumont J. Vassart G, et al. Ann Endocrinol (Paris). 1996;57(1):50-4. Ann Endocrinol (Paris). 1996. PMID: 8734289 Review.

7

Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities?

Gagné N, Parma J, Deal C, Vassart G, Van Vliet G. Gagné N, et al. Among authors: vassart g. J Clin Endocrinol Metab. 1998 May;83(5):1771-5. doi: 10.1210/jcem.83.5.4771. J Clin Endocrinol Metab. 1998. PMID: 9589691

8

A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis.

Esapa CT, Duprez L, Ludgate M, Mustafa MS, Kendall-Taylor P, Vassart G, Harris PE. Esapa CT, et al. Among authors: vassart g. Thyroid. 1999 Oct;9(10):1005-10. doi: 10.1089/thy.1999.9.1005. Thyroid. 1999. PMID: 10560955

9

Pathology of the TSH receptor.

Duprez L, Parma J, Van Sande J, Rodien P, Sabine C, Abramowicz M, Dumont JE, Vassart G. Duprez L, et al. Among authors: vassart g. J Pediatr Endocrinol Metab. 1999 Apr;12 Suppl 1:295-302. J Pediatr Endocrinol Metab. 1999. PMID: 10698593 Review.

10

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

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