França MM - Search Results

1

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.

2

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

3

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

4

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.

Bear KA, Solomon BD, Antonini S, Arnhold IJ, França MM, Gerkes EH, Grange DK, Hadley DW, Jääskeläinen J, Paulo SS, Rump P, Stratakis CA, Thompson EM, Willis M, Winder TL, Jorge AA, Roessler E, Muenke M. Bear KA, et al. Among authors: franca mm. J Med Genet. 2014 Jun;51(6):413-8. doi: 10.1136/jmedgenet-2013-102249. Epub 2014 Apr 17. J Med Genet. 2014. PMID: 24744436 Free PMC article.

5

Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.

Madeira JL, Nishi MY, Nakaguma M, Benedetti AF, Biscotto IP, Fernandes T, Pequeno T, Figueiredo T, Franca MM, Correa FA, Otto AP, Abrão M, Miras MB, Santos S, Jorge AA, Costalonga EF, Mendonca BB, Arnhold IJ, Carvalho LR. Madeira JL, et al. Among authors: franca mm. Clin Endocrinol (Oxf). 2017 Dec;87(6):725-732. doi: 10.1111/cen.13430. Epub 2017 Sep 4. Clin Endocrinol (Oxf). 2017. PMID: 28734020

6

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.

Correa FA, Jorge AA, Nakaguma M, Canton AP, Costa SS, Funari MF, Lerario AM, Franca MM, Carvalho LR, Krepischi AC, Arnhold IJ, Rosenberg C, Mendonca BB. Correa FA, et al. Among authors: franca mm. Clin Endocrinol (Oxf). 2018 Mar;88(3):425-431. doi: 10.1111/cen.13535. Epub 2018 Jan 10. Clin Endocrinol (Oxf). 2018. PMID: 29265571

7

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

8

Clarification of intellectual abilities in patients with GLI2 mutations cited by Kevelam et al., 2012 Am J Med Genet Part A.

França MM, Arnhold IJ. França MM, et al. Am J Med Genet A. 2012 Jun;158A(6):1519. doi: 10.1002/ajmg.a.35317. Epub 2012 Apr 23. Am J Med Genet A. 2012. PMID: 22528067 No abstract available.

9

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.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

48 results

Search Page