Marcela M. Franca

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 13 publications

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

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

Journal: Clinical endocrinology

Published: August 18, 2017

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

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

Journal: Journal of the Endocrine Society

Published: May 08, 2017

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

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

Journal: Clinical endocrinology

Published: March 05, 2017

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.

Journal: Archives of endocrinology and metabolism

Published: February 11, 2016

Role of GLI2 in hypopituitarism phenotype.

Role of GLI2 in hypopituitarism phenotype.

Journal: Journal of molecular endocrinology

Published: April 01, 2015

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

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

Journal: Endocrine connections

Published: March 05, 2015

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

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

Journal: European journal of endocrinology

Published: February 09, 2015

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.

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.

Journal: Pituitary

Published: October 16, 2014

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

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

Journal: Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society

Published: May 09, 2014

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

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

Journal: Journal of medical genetics

Published: April 19, 2014

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

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

Journal: Clinical endocrinology

Published: July 02, 2012

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

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

Journal: Hormone research in paediatrics

Published: May 02, 2012

Showing 1-12 of 13

Last Updated: 09/26/2026