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Stem Cell Research|December 28, 2023
Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication SyndromeDanielle Mendonca, Gerarda Cappuccio, Jennifer Sheppard, et al.
Pediatrics|June 12, 2024
Better Guidelines and Policies: AAP's Partnership for Policy ImplementationChristoph U Lehmann, William G Adams, Juan D Chaparro, et al.
The Journal of Clinical Endocrinology and Metabolism|June 13, 2020
Steroid Screening Tools Differentiating Nonclassical Congenital Adrenal Hyperplasia and Polycystic Ovary SyndromeGiovana D N Maffazioli, Tania A S S Bachega, Sylvia A Y Hayashida, et al.
Frontiers in Immunology|May 3, 2021
Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) SyndromeLeonardo Oliveira Mendonca, Alex Isidoro Prado, Izelda Maria Carvalho Costa, et al.
The Journal of Clinical Endocrinology and Metabolism|May 14, 2010
Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiencyEricka B Trarbach, Ana Paula Abreu, Leticia Ferreira Gontijo Silveira, et al.
Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society|August 14, 2014
Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohortAndria C V Lido, Marcela M França, Fernanda A Correa, et al.
Archives of Endocrinology and Metabolism|May 19, 2026
Genetic alterations of telomere maintenance pathways in paragangliomasLucas Batini, Eduardo C Lobato, Felipe Freitas-Castro, et al.
ACS Medicinal Chemistry Letters|May 26, 2018
Aminoisoxazoles as Potent Inhibitors of Tryptophan 2,3-Dioxygenase 2 (TDO2)Zhonghua Pei, Rohan Mendonca, Lewis Gazzard, et al.
Neuroendocrinology|May 16, 2018
Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter RegionDelanie B Macedo, Monica M França, Luciana R Montenegro, et al.
Journal of Clinical Immunology|May 16, 2017
Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RNLeonardo O Mendonca, Louise Malle, Frank X Donovan, et al.
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