Filippo Vairo

Filippo Vairo

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Filippo Vairo

Publications by authors named "Filippo Vairo"

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[PROVISIONAL] Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma.

Genet Mol Biol 2019 Jun 10. Epub 2019 Jun 10.

Post-Graduation Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1590/1678-4685-GMB-2018-0246DOI Listing
June 2019

Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency.

Gene 2019 May 9;699:102-109. Epub 2019 Mar 9.

Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; BRAIN Laboratory, Center for Experimental Research (CPE), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil; Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil.

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https://linkinghub.elsevier.com/retrieve/pii/S03781119193022
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http://dx.doi.org/10.1016/j.gene.2019.03.007DOI Listing
May 2019

Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.

Orphanet J Rare Dis 2019 05 10;14(1):103. Epub 2019 May 10.

Postgraduate Program in Medical Sciences, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1186/s13023-019-1079-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509774PMC
May 2019

Breastfeeding in patients with Gaucher disease: Is taliglucerase alfa safe?

Mol Genet Metab Rep 2019 Mar 16;18:30-31. Epub 2019 Jan 16.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

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http://dx.doi.org/10.1016/j.ymgmr.2018.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349462PMC
March 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 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

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Clinical and molecular characterization of neurofibromatosis in southern Brazil.

Expert Rev Mol Diagn 2018 06 27;18(6):577-586. Epub 2018 Apr 27.

a Laboratório de Medicina Genômica - Centro de Pesquisa Experimental , Hospital de Clínicas de Porto Alegre , Porto Alegre , Brazil.

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http://dx.doi.org/10.1080/14737159.2018.1468256DOI Listing
June 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

Could enzyme replacement therapy promote immune tolerance in Gaucher disease type 1?

Blood Cells Mol Dis 2018 02 24;68:200-202. Epub 2016 Oct 24.

Medical Genetics Service, Hospital das Clínicas de Porto Alegre, Brazil; Genetics Department, Universidade Federal do Rio Grande do Sul, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2016.10.016DOI Listing
February 2018

Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS.

Lancet Child Adolesc Health 2018 01 24;2(1):56-68. Epub 2017 Oct 24.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgraduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

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http://dx.doi.org/10.1016/S2352-4642(17)30087-1DOI Listing
January 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

Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know.

Radiographics 2016 Sep-Oct;36(5):1448-62

From the Divisions of Radiology (R.R., L.G.C., J.A.P., J.A.D., F.A.L., L.M.V.), Genetics (F.V., C.F.M.d.S.), and Medical Physics and Radiation Protection (M.A.), Hospital de Clínicas de Porto Alegre, 2350 Ramiro Barcelos St, Porto Alegre, Rio Grande do Sul 90035-903, Brazil; and Postgraduate Program in Medical Sciences of Federal University of Rio Grande do Sul, Porto Alegre, Brazil (L.G.C., J.A.P., L.M.V.).

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http://dx.doi.org/10.1148/rg.2016150168DOI Listing
September 2017

Emerging drugs for the treatment of mucopolysaccharidoses.

Expert Opin Emerg Drugs 2016 9;21(1):9-26. Epub 2016 Jan 9.

d Post-Graduate Program in Genetics and Molecular Biology , Universidade Federal do Rio Grande do Sul , Porto Alegre , Brazil.

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http://dx.doi.org/10.1517/14728214.2016.1123690DOI Listing
October 2016

Biomolecules damage and redox status abnormalities in Fabry patients before and during enzyme replacement therapy.

Clin Chim Acta 2016 Oct 22;461:41-6. Epub 2016 Jul 22.

Programa de Pós-Graduação em Ciências Biológicas:Bioquímica, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Farmacêuticas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2016.07.016DOI Listing
October 2016

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism.

Orphanet J Rare Dis 2016 06 10;11(1):76. Epub 2016 Jun 10.

Laboratório de Genômica Clínica da Faculdade de Medicina and Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.

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http://dx.doi.org/10.1186/s13023-016-0458-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901491PMC
June 2016

Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC).

Oral Surg Oral Med Oral Pathol Oral Radiol 2015 Dec 28;120(6):e235-9. Epub 2015 May 28.

Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1016/j.oooo.2015.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4640955PMC
December 2015

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

Appl Clin Genet 2015 30;8:245-55. Epub 2015 Oct 30.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil ; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil ; Clinical Research Group on Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil ; Post-Graduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil ; Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil ; Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil ; Post-Graduate Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

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http://dx.doi.org/10.2147/TACG.S68650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634832PMC
November 2015

Osteopontin: a potential biomarker of Gaucher disease.

Ann Hematol 2015 Jul 1;94(7):1119-25. Epub 2015 Apr 1.

Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, 90035-903, Brazil,

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http://dx.doi.org/10.1007/s00277-015-2354-7DOI Listing
July 2015

The Latin American School of Human and Medical Genetics: promoting education and collaboration in genetics and ethics applied to health sciences across the continent.

J Community Genet 2015 Jul 26;6(3):189-91. Epub 2015 May 26.

Department of Genetics, Universidade Federal do Rio Grande do Sul, Av Bento Gonçalves, 9500, Porto Alegre, RS, 91501-970, Brazil,

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http://dx.doi.org/10.1007/s12687-015-0230-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4524829PMC
July 2015

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

Does enzyme replacement therapy enhance brain-derived neurotrophic factor expression in Gaucher disease?

J Neuroimmunol 2015 Jun 5;283:63. Epub 2015 May 5.

Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, 2350 Porto Alegre, RS, Brazil; BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350 Porto Alegre, RS, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul, Av. Bento Gonçalves, 9500 Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1016/j.jneuroim.2015.05.004DOI Listing
June 2015

Serum -microglobulin is frequently elevated in type 1 Gaucher patients.

Mol Genet Metab Rep 2015 Mar 15;2:38-40. Epub 2014 Dec 15.

Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Brazil.

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http://dx.doi.org/10.1016/j.ymgmr.2014.11.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471151PMC
March 2015

Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases.

Neuroimaging Clin N Am 2015 Feb;25(1):31-51

Radiology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Post Graduation Program on Medical Sciences: Medicine, Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.nic.2014.09.004DOI Listing
February 2015

Brain-derived neurotrophic factor expression increases after enzyme replacement therapy in Gaucher disease.

J Neuroimmunol 2015 Jan 13;278:190-3. Epub 2014 Nov 13.

Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Brazil; BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul, Brazil.

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http://dx.doi.org/10.1016/j.jneuroim.2014.11.005DOI Listing
January 2015

A Case of Early Infantile Pompe Disease with Atypical Manifestation.

J Neuromuscul Dis 2015;2(s1):S15

Medical Genetic Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

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January 2015

Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III.

JIMD Rep 2014 17;14:37-42. Epub 2013 Dec 17.

Post-Graduate Program in Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1007/8904_2013_281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213328PMC
October 2014

Breastfeeding in Gaucher disease: is enzyme replacement therapy safe?

Clin Ther 2014 Jun 24;36(6):990-1. Epub 2014 Apr 24.

Department of Genetics, Universidade Federal do Rio Grande do Sul Av. Bento Gonçalves 9500 Prédio 43323M, CEP:91501-970/Caixa Postal 15053 Porto Alegre, RS, Brazil Porto Alegre, Brazil.

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http://dx.doi.org/10.1016/j.clinthera.2014.03.017DOI Listing
June 2014

The challenges of organizing an international course in Latin America.

Genet Mol Biol 2014 Mar;37(1 Suppl):149-50

Centro de Terapia Gênica, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil .

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983576PMC
March 2014

Human leukocyte antigens and Gaucher disease.

Blood Cells Mol Dis 2013 Mar 14;50(3):202-5. Epub 2012 Nov 14.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil.

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http://dx.doi.org/10.1016/j.bcmd.2012.10.008DOI Listing
March 2013

KIR genes and HLA class I ligands in Gaucher disease.

Gene 2013 Mar 21;516(1):53-7. Epub 2012 Dec 21.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil.

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http://dx.doi.org/10.1016/j.gene.2012.12.014DOI Listing
March 2013

Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.

Gene 2013 Jan 6;512(1):113-6. Epub 2012 Oct 6.

Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1016/j.gene.2012.09.106DOI Listing
January 2013

Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis.

Genet Mol Biol 2012 Dec 18;35(4 (suppl)):947-54. Epub 2012 Dec 18.

Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul,Porto Alegre, RS, Brazil.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3571424PMC
December 2012

The basis of inborn errors of metabolism for neuroradiologists.

Top Magn Reson Imaging 2011 Oct;22(5):209-14

From the *Medical Genetics Service, Hospital de Clínicas de Porto Alegre; †Post Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul; ‡Neuroradiology Service, Hospital Moinhos de Vento; and §Department of Internal Medicine, Universidade Federal do Rio Grande do Sul; Radiology Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.

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http://dx.doi.org/10.1097/RMR.0b013e31829689bdDOI Listing
October 2011