Vairo, Filippo Pintoe: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Impact of integrated translational research on clinical exome sequencing

Klee, Eric W., Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R.

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 824 KB

2020

2

Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1

d'Avila Paskulin, Livia, Starosta, Rodrigo Tzovenos, Zizemer, Vitória Schütt, Basgalupp, Suélen, Bertholdo, Débora, Vairo, Filippo Pinto e, Siebert, Marina, Michelin-Tirelli, Kristiane, Schwartz, Ida

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

File:

PDF, 1.02 MB

2019

3

Liver involvement in patients with Gaucher disease types I and III

Starosta, Rodrigo Tzovenos, Vairo, Filippo Pinto e, Dornelles, Alícia Dorneles, Basgalupp, Suélen Porto, Siebert, Marina, Pedroso, Maria Lúcia Alves, Cerski, Carlos Thadeu Schmidt, Álvares-da-Silva, M

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

Language:

english

File:

PDF, 738 KB

english, 2020

4

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

Basgalupp, Suelen P., Siebert, Marina, Vairo, Filippo Pinto e, Chami, Anisse Marques, Pinto, Louise Lapagesse de Camargo, Carvalho, Gerson da S., Schwartz, Ida Vanessa D.

Journal:

Blood Cells, Molecules, and Diseases

Year:

2016

Language:

english

File:

PDF, 952 KB

english, 2016

5

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

Pinto e Vairo, Filippo, Bertsch, Nicole, Klee, Eric W., Gavrilova, Ralitza H.

Journal:

Acta Neuropathologica Communications

Year:

2018

Language:

english

File:

PDF, 894 KB

english, 2018

6

Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa

e Vairo, Filippo Pinto, Kroc, Sarah A., Bertsch, Nicole L., Sigafoos, Ashley N., Lee, Han B., Dsouza, Nikita R., Clark, Karl J., Pichurin, Pavel N., Zimmermann, Michael T., Klee, Eric W.

Journal:

Thrombosis Research

Year:

2020

File:

PDF, 1.23 MB

2020

7

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases

Blackburn, Patrick R., Barnett, Sarah S., Zimmermann, Michael T., Cousin, Margot A., Kaiwar, Charu, Pinto e Vairo, Filippo, Niu, Zhiyv, Ferber, Matthew J., Urrutia, Raul A., Selcen, Duygu, Klee, Eric

Journal:

Molecular Case Studies

Year:

2017

Language:

english

File:

PDF, 979 KB

english, 2017

8

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

Ashton-Prolla, Patrícia, Goldim, José Roberto, Vairo, Filippo Pinto e, da Silveira Matte, Ursula, Sequeiros, Jorge

Journal:

Journal of Community Genetics

Year:

2015

Language:

english

File:

PDF, 172 KB

english, 2015

9

Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls

Pinto e Vairo, Filippo, Conboy, Erin, de Souza, Carolina Fischinger Moura, Jones, Amie, Barnett, Sarah S., Klee, Eric W., Lanpher, Brendan C.

Journal:

Year:

2018

Language:

english

File:

PDF, 1.47 MB

english, 2018

10

Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes

Mangaonkar, Abhishek A., Ferrer, Alejandro, Pinto e Vairo, Filippo, Cousin, Margot A., Kuisle, Ryan J., Klee, Eric W., Kennedy, Cassie C., Peters, Steve G., Scott, J.P., Utz, James P., Baqir, Misbah,

Journal:

Mayo Clinic Proceedings

Year:

2018

Language:

english

File:

PDF, 163 KB

english, 2018

11

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

Vairo, Filippo Pintoe, Chwal, Bruna Cristine, Perini, Silvana, Ferreira, Maria Angélica Pires, de Freitas Lopes, Ana Carolina, Saute, Jonas Alex Morales

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 893 KB

english, 2018

12

Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias

Mangaonkar, Abhishek A., Ferrer, Alejandro, Pinto e Vairo, Filippo, Cousin, Margot A., Kuisle, Ryan J., Gangat, Naseema, Hogan, William J., Litzow, Mark R., McAllister, Tammy M., Klee, Eric W., Lazari

Journal:

Mayo Clinic Proceedings

Year:

2019

Language:

english

File:

PDF, 602 KB

english, 2019

13

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

Feier, Flavia, Schwartz, Ida Vanessa D., Benkert, Abigail R., Neto, Joao Seda, Miura, Irene, Chapchap, Paulo, da Fonseca, Eduardo Antunes, Vieira, Sandra, Zanotelli, Maria Lúcia, Vairo, Filippo Pinto

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 784 KB

english, 2016

14

Individualized medicine comes to the liver clinic

Pinto e Vairo, Filippo, Lazaridis, Konstantinos N.

Journal:

Journal of Hepatology

Year:

2019

Language:

english

File:

PDF, 292 KB

english, 2019

15

Individualized medicine comes to the liver clinic

Pinto e Vairo, Filippo, Lazaridis, Konstantinos N.

Journal:

Journal of Hepatology

Year:

2019

File:

PDF, 292 KB

2019

16

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients

Vairo, Filippo Pinto, Boczek, Nicole J., Cousin, Margot A., Kaiwar, Charu, Blackburn, Patrick R., Conboy, Erin, Lanpher, Brendan C., Gavrilova, Ralitza H., Pichurin, Pavel N., Lazaridis, Konstantinos

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 195 KB

english, 2017

17

Maple syrup urine disease: mechanisms and management

Blackburn, Patrick, Gass, Jennifer, Pinto e Vairo, Filippo, Farnham, Kristen, Atwal, Herjot, Macklin, Sarah, Klee, Eric, Atwal, Paldeep

Journal:

The Application of Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.47 MB

english, 2017

18

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

Biancini, Giovana Brondani, Jacques, Carlos Eduardo, Hammerschmidt, Tatiane, de Souza, Heryk Motta, Donida, Bruna, Deon, Marion, Vairo, Filippo Pinto, Lourenço, Charles Marques, Giugliani, Roberto, Va

Journal:

Clinica Chimica Acta

Year:

2016

Language:

english

File:

PDF, 524 KB

english, 2016

19

Precision Medicine for Lysosomal Disorders

Pinto e Vairo, Filippo, Rojas MÃ¡laga, Diana, Kubaski, Francyne, Fischinger Moura de Souza, Carolina, de Oliveira Poswar, Fabiano, Baldo, Guilherme, Giugliani, Roberto

Journal:

Year:

2020

File:

PDF, 363 KB

2020

20

Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohnâs Disease

Macke, Erica L., Pinto e Vairo, Filippo, Manian, Deepti Vellaichamy, Smith, Angela R., Kemppainen, Jennifer L., Klee, Eric W., Stephens, Michael C., Joshi, Avni Y.

Journal:

Journal of Clinical Immunology

Year:

2020

File:

PDF, 750 KB

2020

21

Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

Pinto e Vairo, Filippo, Pichurin, Pavel N., Fervenza, Fernando C., Nasr, Samih H., Mills, Kevin, Schmitz, Christopher T., Klee, Eric W., Herrmann, Sandra M.

Journal:

Year:

2020

File:

PDF, 708 KB

2020

22

Haploinsufficiency as a disease mechanism in GNB1 -associated neurodevelopmental disorder

Schultz-Rogers, Laura, Masuho, Ikuo, Pinto e Vairo, Filippo, Schmitz, Christopher T., Schwab, Tanya L., Clark, Karl J., Gunderson, Lauren, Pichurin, Pavel N., Wierenga, Klaas, Martemyanov, Kirill A.,

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 874 KB

2020

23

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype

Starosta, Rodrigo Tzovenos, Tarnowski, Jessica, Vairo, Filippo Pinto e, Raymond, Kimiyo, Preston, Graeme, Morava, Eva

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 295 KB

2020

24

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

Schultz-Rogers, Laura, Muthusamy, Karthik, Pinto e Vairo, Filippo, Klee, Eric W., Lanpher, Brendan

Journal:

BMC Medical Genetics

Year:

2020

File:

PDF, 746 KB

2020

25

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

Ashton-Prolla, Patrícia, Goldim, José Roberto, Vairo, Filippo Pinto e, da Silveira Matte, Ursula, Sequeiros, Jorge

Journal:

Journal of Community Genetics

Year:

2015

Language:

english

File:

PDF, 252 KB

english, 2015

26

Hepatocellular carcinoma in Gaucher disease: Reinforcing the proposed guidelines with an exemplary case

Starosta, Rodrigo Tzovenos, Vairo, Filippo Pinto e, Dornelles, Alícia Dorneles, Cerski, Carlos Thadeu Schmidt, Álvares-da-Silva, Mario Reis, Schwartz, Ida Vanessa Doederlein

Journal:

Blood Cells, Molecules, and Diseases

Year:

2018

Language:

english

File:

PDF, 2.39 MB

english, 2018

27

Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1

d'Avila Paskulin, Livia, Starosta, Rodrigo Tzovenos, Zizemer, Vitória Schütt, Basgalupp, Suélen, Bertholdo, Débora, Vairo, Filippo Pinto e, Siebert, Marina, Michelin-Tirelli, Kristiane, Schwartz, Ida

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

Language:

english

File:

PDF, 1.02 MB

english, 2019

28

Attention-deficit hyperactivity disorder in Brazilian patients with phenylketonuria

da Silva, Fernanda Gabriel Santos, e Vairo, Filippo Pinto, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Doederlein

Journal:

Acta Neurologica Belgica

Year:

2018

Language:

english

File:

PDF, 627 KB

english, 2018

29

Novel germline missense DDX41 variant in a patient with an adult-onset myeloid neoplasm with excess blasts without dysplasia

Vairo, Filippo Pinto e, Ferrer, Alejandro, Cathcart-Rake, Elizabeth, King, Rebecca L., Howard, Matthew T., Viswanatha, David S., Klee, Eric W., Mangaonkar, Abhishek A., Patnaik, Mrinal M.

Journal:

Leukemia and Lymphoma

Year:

2018

Language:

english

File:

PDF, 923 KB

english, 2018

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски