LUCIANI RENATA SILVEIRA DE CARVALHO
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
19 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 19
conferenceObject An Extremely Rare Novel Missense Variant p.M304V in SOX3 Gene is Responsible for an X-Linked GH Deficiency in a Brazilian Patient(2019) BENEDETTI, A. F. F.; SILVA, J. M.; BISCOTTO, I. P.; FERREIRA, N. P.; ARNHOLD, I. J. P.; MENDONCA, B. B.; CARVALHO, L. R. S.conferenceObject Copy Number Variants in Patients with Congenital Hypopituitarism Associated with Complex Phenotypes(2015) CORREA, F.; FRANCA, M.; CANTON, A.; OTTO, A.; COSTALONGA, E.; BRITO, V; CARVALHO, L.; COSTA, S.; ARNHOLD, I; JORGE, A.; ROSENBERG, C.; MENDONCA, B.conferenceObject Prospective Genetic Analysis of Patients with Congenital Growth Hormone Deficiency by Massive Parallel Sequencing Using Target Gene Panel(2016) NAKAGUMA, M.; JORGE, A. Augusto de Lima; FUNARI, M. Ferreira de Assis; LERARIO, Marcondes A.; CARVALHO, L. Renata Silveira de; MENDONCA, B. Bilharinho de; ARNHOLD, I Jorge Prado- Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities(2022) GRIFFERO, Mariana; BENEDETTI, Anna Flavia Figueredo; PEREZ, Marcela; CARVALHO, Luciani; JORGE, Alexander; LATRONICO, Ana Claudia; MENDONCA, Berenice; ARNHOLD, Ivo; MERICQ, VeronicaObjectives The normal development of the pituitary gland requires multiple induction signals and transcription factors encoded by more than 30 genes, including OTX2. OTX2 mutations have been described with eye abnormalities and variable congenital hypopituitarism, but rarely with hypopituitarism without ocular manifestations. Case presentation We report a girl with hypopituitarism associated with pituitary hypoplasia and pituitary stalk atrophy, without ocular manifestations. NGS revealed a novel heterozygous mutation in OTX2 c.426dupC:p.(Ser143Leufs*2). Conclusions Mutations in the transcription factor OTX2 have been associated with ocular, craniofacial, and pituitary development anomalies. Here we describe a novel mutation in OTX2 associated with hypopituitarism without an ocular phenotype.
conferenceObject DEAH-Box Helicase 37defects (DXH37) Defects Are a Novel Cause of 46,XY Gonadal Dysgenesis(2018) GOMES, Nathalia; SILVA, Thatiana; LERARIO, Antonio; BATISTA, Rafael Loch; FARIA JUNIOR, Jose Antonio; MORAES, Daniela; COSTA, Elaine Maria Frade; NISHI, Mirian; CARVALHO, Luciani Renata; FORCLAZ, Maria Veronica; PAPAZIAN, Regina; MARTINEZ-AGUAYO, Alejandro; PAULA, Leila Pedroso de; CARVALHO, Filomena Marino; VILAIN, Erick; BARSEGHYAN, Hayk Barseghyan; KEEGAN, Catherine; DOMENICE, Sorahia; MENDONCA, Berenice BilharinhoconferenceObject p.Gln207Arg GH1 allelic variant associated to GH deficiency and specific intronic region may be a modulator of GH secretion(2023) SASSON, Tessa; DAUBER, Andrew; JORGE, Alexander; PANDEY, Amit; ARNHOLD, Ivo; CARVALHO, LucianiconferenceObject Fertility and Pregnancy Outcomes after Ovarian Stimulation in Five Patients with Congenital Hypopituitarism Treated with GH Since Childhood(2016) CORREA, F. A.; BIANCHI, P. H. M.; FRANCA, M. M.; OTTO, A. P.; RODRIGUES, R. J. M.; I, D. Ejzenberg; SERAFINI, P. C.; ARNHOLD, I. J. P.; MENDONCA, B. B.; CARVALHO, L. R. S.conferenceObject E74 LIKE ETS TRANSCRIPTION FACTOR 4 ( ELF4) IS A CANDIDATE GENE FOR X- LINKED FAMILIAL ISOLATED GROWTH HORMONE DEFICIENCY BY WHOLE EXOME SEQUENCING(2017) CORREA, Fernanda A.; FANG, Qing; LERARIO, Antonio M.; MA, Qianyi; OZEL, Bilge A.; LI, Jun Z.; JORGE, Alexander A. L.; CARVALHO, Luciani R.; ARNHOLD, Ivo J. P.; CAMPER, Sally A.; MENDONCA, Berenice B.conferenceObject A Novel OTX2 Mutation, P.H230L, Causes Hypopituitarism with Incomplete Penetrance: Exome Sequencing to Identify Modifier Genes(2015) MADEIRA, J.; MOREIRA, M.; FRANCA, M.; OTTO, A.; CORREA, F.; ARNHOLD, I.; MENDONCA, B.; FANG, Q.; MA, Q.; LI, J.; GERGICS, P.; CAMPER, S.; CARVALHO, L.conferenceObject Isolated Growth Hormone Deficiency with Advanced Bone Age: Phenotypic Interaction between GHRH Receptor and CYP21A2 Mutations Diagnosed by Sanger and Whole Exome Sequencing(2016) CORREA, F. A.; FRANCA, M. M.; FANG, Q.; MA, Q.; OZEL, B. A.; BACHEGA, T. A.; RODRIGUES, A.; LI, J. Z.; MENDONCA, B. B.; JORGE, A. A. L.; CARVALHO, L. R.; CAMPER, S. A.; ARNHOLD, I. J. P.