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2004 1
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16 results

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Page 1
Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.
Correa FA, França MM, Fang Q, Ma Q, Bachega TA, Rodrigues A, Ozel BA, Li JZ, Mendonca BB, Jorge AAL, Carvalho LR, Camper SA, Arnhold IJP. Correa FA, et al. Among authors: franca mm. Arch Endocrinol Metab. 2017 Dec;61(6):633-636. doi: 10.1590/2359-3997000000311. Arch Endocrinol Metab. 2017. PMID: 29412390 Free PMC article.
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.
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
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
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.
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.
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.
16 results