Deladoëy J - 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: deladoey j. 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

New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency.

Mullis PE, Deladoëy J, Dannies PS. Mullis PE, et al. Among authors: deladoey j. J Pediatr Endocrinol Metab. 2002 Dec;15 Suppl 5:1301-10. J Pediatr Endocrinol Metab. 2002. PMID: 12510984 Review.

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. Thyroid. 2003 Jun;13(6):553-9. doi: 10.1089/105072503322238818. Thyroid. 2003. PMID: 12930599

4

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. Among authors: deladoey j. 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

5

Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.

Deladoëy J, Pfarr N, Vuissoz JM, Parma J, Vassart G, Biesterfeld S, Pohlenz J, Van Vliet G. Deladoëy J, et al. J Clin Endocrinol Metab. 2008 Feb;93(2):627-33. doi: 10.1210/jc.2007-2276. Epub 2007 Nov 20. J Clin Endocrinol Metab. 2008. PMID: 18029453

6

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: deladoey j. J Clin Endocrinol Metab. 1998 Oct;83(10):3727-34. doi: 10.1210/jcem.83.10.5172. J Clin Endocrinol Metab. 1998. PMID: 9768691

7

"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. J Clin Endocrinol Metab. 1999 May;84(5):1645-50. doi: 10.1210/jcem.84.5.5681. J Clin Endocrinol Metab. 1999. PMID: 10323394

8

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. J Clin Endocrinol Metab. 1999 Nov;84(11):4050-4. doi: 10.1210/jcem.84.11.6135. J Clin Endocrinol Metab. 1999. PMID: 10566648

9

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. J Clin Endocrinol Metab. 2001 Aug;86(8):3941-7. doi: 10.1210/jcem.86.8.7723. J Clin Endocrinol Metab. 2001. PMID: 11502836

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. 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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