Luciani R. Carvalho

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

Alexander A.L. Jorge, Frederico Guimarães Marchisotti, Luciana Ribeiro Montenegro et al. · The Journal of Clinical Endocrinology & Metabolism · 2006 · 139 citations

A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction

Luciani R. Carvalho, Kathryn Woods‐Townsend, Berenice B. Mendonça et al. · Journal of Clinical Investigation · 2003 · 135 citations · Full text

Genetics, Genomic Mechanism, Molecular Genetics +18

Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly

Marcela M. França, Alexander A.L. Jorge, Luciani R. Carvalho et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 134 citations

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Péter Gergics, Cathy Smith, Hironori Bando et al. · The American Journal of Human Genetics · 2021 · 56 citations · Full text

Transcriptional Regulation, Pituitary Gland, Genetics +11

Modular Label-Free Electrochemical Biosensor Loading Nature-Inspired Peptide toward the Widespread Use of COVID-19 Antibody Tests

Ana Cristina Honorato de Castro, Ítalo R. S. Bezerra, Aline M. Pascon et al. · ACS Nano · 2022 · 52 citations · Full text