AnataliaLabilloyMD

PubMed

• 3 citations
  Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report.
  Jason Katz, Anatalia Labilloy, Andrew Lee> ;BMC Pediatrics. 2022 Aug 30
• Infantile Hypotonia: A Case of Spinal Muscular Atrophy With Respiratory Distress Type 1 Presenting As Infant Botulism.
  Juan Cardenas, Jose Cardenas, Andrew K. Lee, Martha Brown, Fernando N. Galan, Jason Scimeme, Anatalia Labilloy> ;Cureus. 2021 Oct 24
• 13 citations
  Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13
  Bianca Russell, Kaitlin G. Whaley, Kevin E. Bove, Anatalia Labilloy, Rachel C. Lombardo, Robert J. Hopkin, Nancy D. Leslie, Carlos E. Prada, Zahra Assouline, Giulia Ba...> ;Hepatology. 2019 Sep 1
• 1 citations
  Lose the lipid: renoprotection conferred by Gb3 synthase knockout
  Anatalia Labilloy, Ora A. Weisz> ;Kidney International. 2019 Aug 1
• 3 citations
  CD77 levels over enzyme replacement treatment in Fabry Disease Family (V269M).
  Ester Miranda Pereira, Adalberto Socorro da Silva, Raimundo Nonato Pereira da Silva, José Tibúrcio do Monte Neto, Fernando Ferraz do Nascimento, Jackeline Larissa Mend...> ;Jornal Brasileiro De Nefrologia. 2018 Jun 4
• 61 citations
  The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.
  Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Q.C.M. Barge-Schaapveld, Moira Blyth, M...> ;Wellcome Open Research. 2018 Apr 23
• 16 citations
  Characterization and phosphoproteomic analysis of a human immortalized podocyte model of Fabry disease generated using CRISPR/Cas9 technology
  Ester Miranda Pereira, Anatalia Labilloy, Megan L. Eshbach, Ankita Roy, Arohan R. Subramanya, Semiramis Jamil Hadad do Monte, Guillaume Labilloy, Ora A. Weisz> ;American Journal of Physiology. Renal Physiology. 2016 Nov 1
• 13 citations
  Podocyturia in Fabry disease
  Ester Miranda Pereira, Adalberto Socorro da Silva, Anatalia Labilloy, José Tibúrcio do Monte Neto, Semiramis Jamil Hadad do Monte> ;Jornal Brasileiro De Nefrologia. 2016 Mar 1
• 103 citations
  New concepts in basement membrane biology.
  Willi Halfter, Philipp Oertle, Christophe A. Monnier, Leon C. Camenzind, Magaly Reyes‐Lua, Huaiyu Hu, Joseph Candiello, Anatalia Labilloy, Manimalha Balasubramani, Pau...> ;The FEBS Journal. 2015 Dec 1
• 15 citations
  Lysosome-associated protein 1 (LAMP-1) and lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease.
  Ester Miranda Pereira, Semiramis Jamil Hadad do Monte, Fernando Ferraz do Nascimento, José Adail Fonseca de Castro, Jackeline Larissa Mendes de Sousa, Henrique César S...> ;Gene. 2014 Feb 15
• 16 citations
  Altered dynamics of a lipid raft associated protein in a kidney model of Fabry disease.
  Anatalia Labilloy, Robert T. Youker, Jennifer R. Bruns, Ira Kukic, Kiril Kiselyov, Willi Halfter, David N. Finegold, Semiramis Jamil Hadad do Monte, Ora A. Weisz> ;Molecular Genetics and Metabolism. 2014 Feb 1
• 14 citations
  VAMP7 modulates ciliary biogenesis in kidney cells.
  Christina M. Szalinski, Anatalia Labilloy, Jennifer R. Bruns, Ora A. Weisz> ;Plos One. 2014 Jan 22
• 10 citations
  Induction of sister chromatid exchange by acrylamide and glycidamide in human lymphocytes: role of polymorphisms in detoxification and DNA-repair genes in the genotoxi...
  Marta Pingarilho, Nuno G. Oliveira, Célia Martins, Bruno Gomes, Ana Sofia Fernandes, Vanda Martins, Anatalia Labilloy, João Pereira de Lima, José Rueff, Jorge F. Gaspar> ;Mutation Research. 2013 Apr 15
• 2 citations
  Apical targeting and endocytosis of the sialomucin endolyn are essential for establishment of zebrafish pronephric kidney function
  Di Mo, Gudrun Ihrke, Simone A. Costa, Lauren L. Brilli, Anatalia Labilloy, Willi Halfter, Chiara Cianciolo Cosentino, Neil A. Hukriede, Ora A. Weisz> ;Journal of Cell Science. 2012 Nov 15
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