Mullis PE - Search Results

1

New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism.

Vuissoz JM, Deladoëy J, Buyukgebiz A, Cemeroglu P, Gex G, Gallati S, Mullis PE. Vuissoz JM, et al. Among authors: mullis pe. J Clin Endocrinol Metab. 2001 Sep;86(9):4468-71. doi: 10.1210/jcem.86.9.7876. J Clin Endocrinol Metab. 2001. PMID: 11549695

2

Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.

Mullis PE, Robinson IC, Salemi S, Eblé A, Besson A, Vuissoz JM, Deladoey J, Simon D, Czernichow P, Binder G. Mullis PE, et al. J Clin Endocrinol Metab. 2005 Apr;90(4):2089-96. doi: 10.1210/jc.2004-1280. Epub 2005 Jan 25. J Clin Endocrinol Metab. 2005. PMID: 15671105

3

Congenital secondary hypothyroidism due to a mutation C105Vfs114X thyrotropin-beta mutation: genetic study of five unrelated families from Switzerland and Argentina.

Deladoëy J, Vuissoz JM, Domené HM, Malik N, Gruneiro-Papendieck L, Chiesa A, Heinrich JJ, Mullis PE. Deladoëy J, et al. Among authors: mullis pe. Thyroid. 2003 Jun;13(6):553-9. doi: 10.1089/105072503322238818. Thyroid. 2003. PMID: 12930599

4

Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C).

Flück C, Deladoey J, Rutishauser K, Eblé A, Marti U, Wu W, Mullis PE. Flück C, et al. Among authors: mullis pe. J Clin Endocrinol Metab. 1998 Oct;83(10):3727-34. doi: 10.1210/jcem.83.10.5172. J Clin Endocrinol Metab. 1998. PMID: 9768691

5

"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency.

Deladoëy J, Flück C, Büyükgebiz A, Kuhlmann BV, Eblé A, Hindmarsh PC, Wu W, Mullis PE. Deladoëy J, et al. Among authors: mullis pe. J Clin Endocrinol Metab. 1999 May;84(5):1645-50. doi: 10.1210/jcem.84.5.5681. J Clin Endocrinol Metab. 1999. PMID: 10323394

6

Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy.

Deladoëy J, Flück C, Bex M, Yoshimura N, Harada N, Mullis PE. Deladoëy J, et al. Among authors: mullis pe. J Clin Endocrinol Metab. 1999 Nov;84(11):4050-4. doi: 10.1210/jcem.84.11.6135. J Clin Endocrinol Metab. 1999. PMID: 10566648

7

Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion.

Deladoëy J, Stocker P, Mullis PE. Deladoëy J, et al. Among authors: mullis pe. J Clin Endocrinol Metab. 2001 Aug;86(8):3941-7. doi: 10.1210/jcem.86.8.7723. J Clin Endocrinol Metab. 2001. PMID: 11502836

8

Short stature caused by a biologically inactive mutant growth hormone (GH-C53S).

Besson A, Salemi S, Deladoëy J, Vuissoz JM, Eblé A, Bidlingmaier M, Bürgi S, Honegger U, Flück C, Mullis PE. Besson A, et al. Among authors: mullis pe. J Clin Endocrinol Metab. 2005 May;90(5):2493-9. doi: 10.1210/jc.2004-1838. Epub 2005 Feb 15. J Clin Endocrinol Metab. 2005. PMID: 15713716

9

Isolated autosomal dominant growth hormone deficiency: stimulating mutant GH-1 gene expression drives GH-1 splice-site selection, cell proliferation, and apoptosis.

Salemi S, Yousefi S, Lochmatter D, Eblé A, Deladoëy J, Robinson IC, Simon HU, Mullis PE. Salemi S, et al. Among authors: mullis pe. Endocrinology. 2007 Jan;148(1):45-53. doi: 10.1210/en.2006-0772. Epub 2006 Oct 12. Endocrinology. 2007. PMID: 17038549

10

Effect of different growth hormone (GH) mutants on the regulation of GH-receptor gene transcription in a human hepatoma cell line.

Deladoëy J, Gex G, Vuissoz JM, Strasburger CJ, Wajnrajch MP, Mullis PE. Deladoëy J, et al. Among authors: mullis pe. Eur J Endocrinol. 2002 Apr;146(4):573-81. doi: 10.1530/eje.0.1460573. Eur J Endocrinol. 2002. PMID: 11916628

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