Filippo Pinto Vairo

Filippo Pinto E Vairo

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Filippo Pinto Vairo

Filippo Pinto E Vairo

Publications by authors named "Filippo Pinto E Vairo"

19Publications

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1PubMed Central Citations

Individualized medicine comes to the liver clinic.

J Hepatol 2019 Jun 15;70(6):1057-1059. Epub 2019 Apr 15.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01688278193021
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http://dx.doi.org/10.1016/j.jhep.2019.03.025DOI Listing
June 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 2019

Hepatocellular carcinoma in Gaucher disease: Reinforcing the proposed guidelines.

Blood Cells Mol Dis 2019 02 18;74:34-36. Epub 2018 Oct 18.

School of Medicine, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Postgraduate Program on Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil; Medical Genetics Service, HCPA, UFRGS, Porto Alegre, RS, Brazil.

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https://linkinghub.elsevier.com/retrieve/pii/S10799796183025
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http://dx.doi.org/10.1016/j.bcmd.2018.10.004DOI Listing
February 2019

A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease.

Mol Genet Metab 2019 01 11;126(1):6-13. Epub 2018 Dec 11.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Internal Medicine Department, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Postgraduate program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183041
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http://dx.doi.org/10.1016/j.ymgme.2018.12.005DOI Listing
January 2019

GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease.

Acta Neuropathol Commun 2018 10 24;6(1):112. Epub 2018 Oct 24.

Center for Individualized Medicine, Mayo Clinic, Harwick 3, 200 First Street SW, Rochester, MN, 55905, USA.

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http://dx.doi.org/10.1186/s40478-018-0616-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201530PMC
October 2018

Attention-deficit hyperactivity disorder in Brazilian patients with phenylketonuria.

Acta Neurol Belg 2018 Jul 6. Epub 2018 Jul 6.

Postgraduate Program in Genetics Applied to Medicine, Department of Pediatrics, Medical University, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1007/s13760-018-0972-2DOI Listing
July 2018

Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients.

Blood Cells Mol Dis 2018 02 20;68:17-20. Epub 2016 Oct 20.

Postgraduate Program in Medical Sciences, School of Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Basic Research and Advanced Investigations in Neurosciences (BRAIN) Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2016.10.013DOI Listing
February 2018

Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis.

PLoS One 2017 31;12(8):e0184065. Epub 2017 Aug 31.

Postgraduate Program in Genetics Applied to Medicine, Department of Pediatrics, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0184065PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578671PMC
October 2017

Living related versus deceased donor liver transplantation for maple syrup urine disease.

Mol Genet Metab 2016 Mar 12;117(3):336-43. Epub 2016 Jan 12.

Clinic for Special Children, Strasburg, PA, USA; Franklin & Marshall College, Lancaster, PA, USA; Lancaster General Hospital, Lancaster, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.01.005DOI Listing
March 2016

Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil.

J Community Genet 2015 Jul 4;6(3):275-83. Epub 2015 Jun 4.

Serviço de Genetica Medica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil,

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http://dx.doi.org/10.1007/s12687-015-0238-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4524873PMC
July 2015