List of works - Luciani Renata Carvalho

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

scientific article published in June 2016

Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency

scientific article published on 29 June 2011

Acromegalic features in growth hormone (GH)-deficient patients after long-term GH therapy

scientific article published in December 2003

Analysis of craniofacial and extremity growth in patients with growth hormone deficiency during growth hormone therapy

scientific article published on 3 February 2009

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

article

Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.

scientific article

Corepressors TLE1 and TLE3 interact with HESX1 and PROP1

scientific article

Craniofacial features with growth hormone treatment

scientific article published on 01 February 2005

Differential Expression of Stem Cell Markers in Human Adamantinomatous Craniopharyngioma and Pituitary Adenoma.

scientific article

Expression profiles of the glucose-dependent insulinotropic peptide receptor and LHCGR in sporadic adrenocortical tumors.

scientific article published on 29 October 2008

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

scientific article

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.

scientific article

Growth hormone (GH) pharmacogenetics: influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency.

scientific article published on 15 November 2005

HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype

scientific article published on 22 March 2016

Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe

scientific article published in January 2007

Ketoconazole Treatment Decreases the Viability of Immortalized Pituitary Cell Lines Associated with an Increased Expression of Apoptosis-Related Genes and Cell Cycle Inhibitors

scientific article

Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes.

scientific article

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

scientific article

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

scientific article published in April 2013

Role of GLI2 in hypopituitarism phenotype

scientific article

List of works by Luciani Renata Carvalho

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

Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency

Acromegalic features in growth hormone (GH)-deficient patients after long-term GH therapy

Analysis of craniofacial and extremity growth in patients with growth hormone deficiency during growth hormone therapy

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

Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.

Corepressors TLE1 and TLE3 interact with HESX1 and PROP1

Craniofacial features with growth hormone treatment

Differential Expression of Stem Cell Markers in Human Adamantinomatous Craniopharyngioma and Pituitary Adenoma.

Expression profiles of the glucose-dependent insulinotropic peptide receptor and LHCGR in sporadic adrenocortical tumors.

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

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.

Growth hormone (GH) pharmacogenetics: influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency.

HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype

Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe

Ketoconazole Treatment Decreases the Viability of Immortalized Pituitary Cell Lines Associated with an Increased Expression of Apoptosis-Related Genes and Cell Cycle Inhibitors

Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes.

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

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

Role of GLI2 in hypopituitarism phenotype