Franca MM - Search Results

1

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.

Correa FA, Trarbach EB, Tusset C, Latronico AC, Montenegro LR, Carvalho LR, Franca MM, Otto AP, Costalonga EF, Brito VN, Abreu AP, Nishi MY, Jorge AA, Arnhold IJ, Sidis Y, Pitteloud N, Mendonca BB. Correa FA, et al. Among authors: franca mm. Endocr Connect. 2015 Jun;4(2):100-7. doi: 10.1530/EC-15-0015. Epub 2015 Mar 10. Endocr Connect. 2015. PMID: 25759380 Free PMC article.

2

Successful Pregnancies After Adequate Hormonal Replacement in Patients With Combined Pituitary Hormone Deficiencies.

Correa FA, Bianchi PHM, Franca MM, Otto AP, Rodrigues RJM, Ejzenberg D, Serafini PC, Baracat EC, Francisco RPV, Brito VN, Arnhold IJP, Mendonca BB, Carvalho LR. Correa FA, et al. Among authors: franca mm. J Endocr Soc. 2017 Sep 29;1(10):1322-1330. doi: 10.1210/js.2017-00005. eCollection 2017 Oct 1. J Endocr Soc. 2017. PMID: 29264457 Free PMC article.

3

Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

França MM, Jorge AA, Carvalho LR, Costalonga EF, Vasques GA, Leite CC, Mendonca BB, Arnhold IJ. França MM, et al. J Clin Endocrinol Metab. 2010 Nov;95(11):E384-91. doi: 10.1210/jc.2010-1050. Epub 2010 Aug 4. J Clin Endocrinol Metab. 2010. PMID: 20685856

4

Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency.

França MM, Jorge AA, Alatzoglou KS, Carvalho LR, Mendonca BB, Audi L, Carrascosa A, Dattani MT, Arnhold IJ. França MM, et al. J Clin Endocrinol Metab. 2011 Sep;96(9):E1457-60. doi: 10.1210/jc.2011-0170. Epub 2011 Jun 29. J Clin Endocrinol Metab. 2011. PMID: 21715545

5

Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.

França MM, Jorge AA, Carvalho LR, Costalonga EF, Otto AP, Correa FA, Mendonca BB, Arnhold IJ. França MM, et al. Clin Endocrinol (Oxf). 2013 Apr;78(4):551-7. doi: 10.1111/cen.12044. Clin Endocrinol (Oxf). 2013. PMID: 22967285

6

GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects.

Marui S, Trarbach EB, Boguszewski MC, França MM, Jorge AA, Inoue H, Nishi MY, de Lacerda Filho L, Aguiar-Oliveira MH, Mendonca BB, Arnhold IJ. Marui S, et al. Among authors: franca mm. Horm Res Paediatr. 2012;78(3):165-72. doi: 10.1159/000342760. Epub 2012 Oct 10. Horm Res Paediatr. 2012. PMID: 23052699 Clinical Trial.

7

Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort.

Lido AC, França MM, Correa FA, Otto AP, Carvalho LR, Quedas EP, Nishi MY, Mendonca BB, Arnhold IJ, Jorge AA. Lido AC, et al. Among authors: franca mm. Growth Horm IGF Res. 2014 Oct;24(5):180-6. doi: 10.1016/j.ghir.2014.07.001. Epub 2014 Jul 30. Growth Horm IGF Res. 2014. PMID: 25116472

8

Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center.

Otto AP, França MM, Correa FA, Costalonga EF, Leite CC, Mendonca BB, Arnhold IJ, Carvalho LR, Jorge AA. Otto AP, et al. Among authors: franca mm. Pituitary. 2015 Aug;18(4):561-7. doi: 10.1007/s11102-014-0610-9. Pituitary. 2015. PMID: 25315032

9

Role of GLI2 in hypopituitarism phenotype.

Arnhold IJ, França MM, Carvalho LR, Mendonca BB, Jorge AA. Arnhold IJ, et al. Among authors: franca mm. J Mol Endocrinol. 2015 Jun;54(3):R141-50. doi: 10.1530/JME-15-0009. Epub 2015 Apr 15. J Mol Endocrinol. 2015. PMID: 25878059 Review.

10

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: franca mm. 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

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