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Clinics (Sao Paulo, Brazil)|May 11, 2010
Isolated familial somatotropinoma: 11q13-loh and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesisRodrigo A Toledo, Berenice B Mendonca, Maria Candida B V Fragoso, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 10, 2020
A membrane-depolarizing toxin substrate of the <i>Staphylococcus aureus</i> type VII secretion system mediates intraspecies competitionFatima R Ulhuq, Margarida C Gomes, Gina M Duggan, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|September 12, 2021
A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and GonadoblastomaMirian Yumie Nishi, José Antônia Diniz Faria Júnior, Ana Cristina Victorino Krepischi, et al.
Hormone Research in Paediatrics|April 7, 2022
Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center StudyNaiara C B Dantas, Mariana F A Funari, Gabriela A Vasques, et al.
The Journal of Clinical Endocrinology and Metabolism|August 12, 2023
Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of MutagenesisRaquel Martinez Ramos, Reginaldo José Petroli, Nathália Da Roz D'Alessandre, et al.
The Lancet. Neurology|September 18, 2021
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trialEugenio Mercuri, Francesco Muntoni, Giovanni Baranello, et al.
Human Genetics|April 1, 1998
A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relativesS Domenice, M Yumie Nishi, A E Correia Billerbeck, et al.
The Journal of Biological Chemistry|May 22, 2001
TcRho1, a farnesylated Rho family homologue from Trypanosoma cruzi: cloning, trans-splicing, and prenylation studiesJ L Nepomuceno-Silva, K Yokoyama, L D de Mello, et al.
The Journal of Clinical Endocrinology and Metabolism|March 5, 2019
Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian InsufficiencyMonica M Franca, Xingfa Han, Mariana F A Funari, et al.
Biorxiv : the Preprint Server for Biology|November 26, 2025
PROX1 loss in adult mouse Schlemm's canal causes permanent ocular hypertensionSofia L Ochoa, Hoi Lam Li, Hyeohn Kim, et al.
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