PriscilaCGagliardiMD

PubMed

• 2 citations
  Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.
  John C Magnotto, Alessandra Mancini, Keisha Bird, Luciana Montenegro, Filiz Tütüncüler, Sidney A Pereira, Vitoria Simas, Leonardo Garcia, Stephanie A Roberts, Delanie ...> ;The Journal of Clinical Endocrinology and Metabolism. 2023 Jun 16
• 21 citations
  Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations.
  Carlos Eduardo Seraphim, Ana Pinheiro Machado Canton, Luciana Ribeiro Montenegro, Maiara Ribeiro Piovesan, Delanie B Macedo, Marina Cunha, Aline Guimaraes, Carolina Ra...> ;The Journal of Clinical Endocrinology and Metabolism. 2021 Mar 25
• 136 citations
  CLCN2 chloride channel mutations in familial hyperaldosteronism type II
  Ute I. Scholl, Gabriel Stölting, Julia Schewe, Anne Thiel, Hua Tan, Carol Nelson-Williams, Alfred A. Vichot, Sheng Chih Jin, Erin Loring, Verena Untiet, Taekyeong Yoo,...> ;Nature Genetics. 2018 Feb 5
• 10 citations
  Quality of Life in Adolescent Boys with Idiopathic Short Stature: Positive Impact of Growth Hormone and Aromatase Inhibitors.
  Monika Bullinger, Janika Bloemeke, Veronica Mericq, Rachel Sommer, Xiemena Gaete, Judith L. Ross, Y. Miles Yu, Joseph Permuy, Priscila Gagliardi, Y Ligeia Damaso, Nell...> ;Hormone Research in Paediatrics. 2018 Jan 1
• 73 citations
  Randomized Trial of Aromatase Inhibitors, Growth Hormone, or Combination in Pubertal Boys with Idiopathic, Short Stature.
  Nelly Mauras, Judith L. Ross, Priscila Gagliardi, Y. Miles Yu, Jobayer Hossain, Joseph Permuy, Ligeia Damaso, Debbie Merinbaum, Ravinder J. Singh, Ximena Gaete, Veróni...> ;The Journal of Clinical Endocrinology and Metabolism. 2016 Oct 6
• 301 citations
  Central precocious puberty caused by mutations in the imprinted gene MKRN3
  Ana Paula Abreu, Andrew Dauber, Delanie B. Macedo, Sekoni D. Noel, Vinicius Nahime Brito, John C. Gill, Priscilla Cukier, Iain R. Thompson, Víctor M. Navarro, Priscila...> ;The New England Journal of Medicine. 2013 Jun 26
• 22 citations
  A missense mutation encoding cys67 → gly in neurophysin II is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus
  Linda A. DiMeglio, Priscila C. Gagliardi, James E. Browning, Charmian A. Quigley, David R. Repaske> ;Molecular Genetics and Metabolism. 2001 Jan 1
• 38 citations
  Autosomal Dominant Neurohypophyseal Diabetes Insipidus Associated with a Missense Mutation Encoding Gly23→Val in Neurophysin II
  Priscila C. Gagliardi, Sergio Bernasconi, David R. Repaske> ;The Journal of Clinical Endocrinology and Metabolism. 1997 Nov 1
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