Luciani R S Carvalho
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Explore the profile of Luciani R S Carvalho including associated specialties, affiliations and a list of published articles.
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10
Citations
105
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Recent Articles
1.
Gregory L, Gergics P, Nakaguma M, Bando H, Patti G, McCabe M, et al.
Eur J Endocrinol
. 2021 May;
185(1):121-135.
PMID: 33950863
Objective: The transcription factor OTX2 is implicated in ocular, craniofacial, and pituitary development. Design: We aimed to establish the contribution of OTX2 mutations in congenital hypopituitarism patients with/without eye abnormalities,...
2.
Nakaguma M, Correa F, Santana L, Benedetti A, Perez R, Huayllas M, et al.
Endocr Connect
. 2019 Apr;
8(5):590-595.
PMID: 30959475
Aim: Congenital hypopituitarism has an incidence of 1:3500-10,000 births and is defined by the impaired production of pituitary hormones. Early diagnosis has an impact on management and genetic counselling. The...
3.
Silva J, Batista R, De Santi Rodrigues A, Nishi M, Costa E, Domenice S, et al.
Clin Genet
. 2018 Sep;
94(5):489-490.
PMID: 30193409
Androgen insensitivity syndrome (AIS) is caused by defects in the androgen receptor (AR) gene and is the most common aetiology of 46,XY disorders of sex development. Allelic variants in the...
4.
Otto A, Franca M, Correa F, Costalonga E, Leite C, Mendonca B, et al.
Pituitary
. 2014 Oct;
18(4):561-7.
PMID: 25315032
Background: Children initially diagnosed with isolated GH deficiency (IGHD) have a variable rate to progress to combined pituitary hormone deficiency (CPHD) during follow-up. Objective: To evaluate the development of CPHD...
5.
Araujo R, Chang C, Cescato V, Fragoso M, Bronstein M, Mendonca B, et al.
Clinics (Sao Paulo)
. 2013 Jun;
68(6):887-91.
PMID: 23778486
Objective: The expression of transcription factors involved in early pituitary development, such as PROP1 and POU1F1, has been detected in pituitary adenoma tissues. In this study, we sought to characterize...
6.
Franca M, Jorge A, Carvalho L, Costalonga E, Otto A, Correa F, et al.
Clin Endocrinol (Oxf)
. 2012 Sep;
78(4):551-7.
PMID: 22967285
Objective: GLI2 is a downstream transcription factor in Sonic Hedgehog signalling, acting early in ventral forebrain and pituitary development. Heterozygous nonsense GLI2 mutations have been reported in patients with isolated...
7.
Cani C, Matushita H, Carvalho L, Soares I, Brito L, Almeida M, et al.
Clinics (Sao Paulo)
. 2011 Nov;
66(11):1849-54.
PMID: 22086512
Introduction: Activating mutations in exon 3 of the β-catenin gene are involved in the pathogenesis of adamantinomatous craniopharyngiomas. Recently, the interaction between β-catenin and PROP1 has been shown to be...
8.
Franca M, Jorge A, Alatzoglou K, Carvalho L, Mendonca B, Audi L, et al.
J Clin Endocrinol Metab
. 2011 Jul;
96(9):E1457-60.
PMID: 21715545
Context: Although numerous reports of mutations in GH1 and GHRHR (GHRH receptor) causing isolated GH deficiency (IGHD) have been published, mutations in GHRH itself have not been hitherto reported but...
9.
Franca M, Jorge A, Carvalho L, Costalonga E, Vasques G, Leite C, et al.
J Clin Endocrinol Metab
. 2010 Aug;
95(11):E384-91.
PMID: 20685856
Context: GLI2 is a transcription factor downstream in Sonic Hedgehog signaling, acting early in ventral forebrain and pituitary development. GLI2 mutations were reported in patients with holoprosencephaly (HPE) and pituitary...
10.
Marchisotti F, Carvalho L, Berger K, Arnhold I, Mendonca B
Arq Bras Endocrinol Metabol
. 2007 Dec;
51(7):1093-6.
PMID: 18157384
The aim of this study was to compare two preparations of recombinant human GH (rGH) in the treatment of GH deficient patients. Ten prepubertal GH-deficient children were followed during 6...