Arnhold IJ - Search Results

1

A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD).

Madeira JL, Jorge AA, Martin RM, Montenegro LR, Franca MM, Costalonga EF, Correa FA, Otto AP, Arnhold IJ, Freitas HS, Machado UF, Mendonca BB, Carvalho LR. Madeira JL, et al. Among authors: arnhold ij. Eur J Endocrinol. 2016 Aug;175(2):K7-K15. doi: 10.1530/EJE-15-0149. Epub 2016 Jun 1. Eur J Endocrinol. 2016. PMID: 27252485

2

Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations.

Bachega TA, Brenlha EM, Billerbeck AE, Marcondes JA, Madureira G, Arnhold IJ, Mendonca BB. Bachega TA, et al. Among authors: arnhold ij. J Clin Endocrinol Metab. 2002 Feb;87(2):786-90. doi: 10.1210/jcem.87.2.8247. J Clin Endocrinol Metab. 2002. PMID: 11836321

3

Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene.

Mendonca BB, Leite MV, de Castro M, Kino T, Elias LL, Bachega TA, Arnhold IJ, Chrousos GP, Latronico AC. Mendonca BB, et al. Among authors: arnhold ij. J Clin Endocrinol Metab. 2002 Apr;87(4):1805-9. doi: 10.1210/jcem.87.4.8379. J Clin Endocrinol Metab. 2002. PMID: 11932321

4

An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.

Melo KF, Martin RM, Costa EM, Carvalho FM, Jorge AA, Arnhold IJ, Mendonca BB. Melo KF, et al. Among authors: arnhold ij. J Clin Endocrinol Metab. 2002 Jun;87(6):2500-5. doi: 10.1210/jcem.87.6.8521. J Clin Endocrinol Metab. 2002. PMID: 12050205 Review.

5

Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.

Billerbeck AE, Mendonca BB, Pinto EM, Madureira G, Arnhold IJ, Bachega TA. Billerbeck AE, et al. Among authors: arnhold ij. J Clin Endocrinol Metab. 2002 Sep;87(9):4314-7. doi: 10.1210/jc.2001-011939. J Clin Endocrinol Metab. 2002. PMID: 12213891

6

Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.

Osorio MG, Marui S, Jorge AA, Latronico AC, Lo LS, Leite CC, Estefan V, Mendonca BB, Arnhold IJ. Osorio MG, et al. Among authors: arnhold ij. J Clin Endocrinol Metab. 2002 Nov;87(11):5076-84. doi: 10.1210/jc.2001-011936. J Clin Endocrinol Metab. 2002. PMID: 12414875

7

GH values after clonidine stimulation measured by immunofluorometric assay in normal prepubertal children and GH-deficient patients.

Silva EG, Slhessarenko N, Arnhold IJ, Batista MC, Estefan V, Osorio MG, Marui S, Mendonca BB. Silva EG, et al. Among authors: arnhold ij. Horm Res. 2003;59(5):229-33. doi: 10.1159/000070222. Horm Res. 2003. PMID: 12714786 Clinical Trial.

8

Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene.

Melo KF, Mendonca BB, Billerbeck AE, Costa EM, Inácio M, Silva FA, Leal AM, Latronico AC, Arnhold IJ. Melo KF, et al. Among authors: arnhold ij. J Clin Endocrinol Metab. 2003 Jul;88(7):3241-50. doi: 10.1210/jc.2002-021658. J Clin Endocrinol Metab. 2003. PMID: 12843171

9

A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.

Carvalho LR, Woods KS, Mendonca BB, Marcal N, Zamparini AL, Stifani S, Brickman JM, Arnhold IJ, Dattani MT. Carvalho LR, et al. Among authors: arnhold ij. J Clin Invest. 2003 Oct;112(8):1192-201. doi: 10.1172/JCI18589. J Clin Invest. 2003. PMID: 14561704 Free PMC article.

10

The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration.

Jorge AA, Souza SC, Arnhold IJ, Mendonca BB. Jorge AA, et al. Among authors: arnhold ij. Clin Endocrinol (Oxf). 2004 Jan;60(1):36-40. doi: 10.1111/j.1365-2265.2004.01930.x. Clin Endocrinol (Oxf). 2004. PMID: 14678285

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