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Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.
Published in:
Neurological Sciences, 2022, v. 43, n. 7, p. 4473, doi. 10.1007/s10072-022-05934-y
By:
- Winckler, Pablo Brea;
- Chwal, Bruna Cristine;
- Dos Santos, Marco Antonnio Rocha;
- Burguêz, Daniela;
- Polese-Bonatto, Marcia;
- Zanoteli, Edmar;
- Siebert, Marina;
- Vairo, Filippo Pinto e;
- Chaves, Márcia Lorena Fagundes;
- Saute, Jonas Alex Morales
Publication type:
Article
Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1477
By:
- 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.;
- Klee, Eric W.
Publication type:
Article
De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 919, doi. 10.1002/ajmg.a.62576
By:
- Safgren, Stephanie L.;
- Olson, Rory J.;
- Pinto e Vairo, Filippo;
- Bothun, Erick D.;
- Hanna, Christian;
- Klee, Eric W.;
- Schimmenti, Lisa A.
Publication type:
Article
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2417, doi. 10.1002/ajmg.a.62347
By:
- Bowles, Bradley;
- Ferrer, Alejandro;
- Nishimura, Carla J.;
- Pinto e Vairo, Filippo;
- Rey, Tristan;
- Leheup, Bruno;
- Sullivan, Jennifer;
- Schoch, Kelly;
- Stong, Nicholas;
- Agolini, Emanuele;
- Cocciadiferro, Dario;
- Williams, Abigail;
- Cummings, Alex;
- Loddo, Sara;
- Genovese, Silvia;
- Roadhouse, Chelsea;
- McWalter, Kirsty;
- Wentzensen, Ingrid M.;
- Li, Chumei;
- Babovic‐Vuksanovic, Dusica
Publication type:
Article
Elevated holo‐transcobalamin in Gaucher disease type II: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2471, doi. 10.1002/ajmg.a.62252
By:
- Basgalupp, Suelen Porto;
- Donis, Karina Carvalho;
- Siebert, Marina;
- e Vairo, Filippo Pinto;
- Artigalas, Osvaldo;
- Camargo Pinto, Louise L.;
- Behringer, Sidney;
- Spiekerkoetter, Ute;
- Hannibal, Luciana;
- Schwartz, Ida Vanessa D.
Publication type:
Article
Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients.
Published in:
British Journal of Haematology, 2020, v. 190, n. 5, p. e316, doi. 10.1111/bjh.16897
By:
- Saliba, Antoine N.;
- Ferrer, Alejandro;
- Gangat, Naseema;
- Pruthi, Rajiv K.;
- Tefferi, Ayalew;
- Higgins, Alexandra;
- Bezerra, Evandro D.;
- Buglioni, Alessia;
- Salama, Mohamed E.;
- Klee, Eric W.;
- Pinto e Vairo, Filippo;
- Mangaonkar, Abhishek;
- Majerus, Julie;
- Chen, Dong;
- Patnaik, Mrinal M.
Publication type:
Article
Cardiometabolic Risk Markers in Children With Obesity and Variants in MC4R Pathway-related Genes.
Published in:
Journal of the Endocrine Society, 2024, v. 8, n. 9, p. 1, doi. 10.1210/jendso/bvae137
By:
- Salama, Mostafa;
- Vairo, Filippo Pinto e;
- Hentz, Roland;
- Nofal, Alaa Al;
- Hassan, Sara;
- Ibrahim, Samar H;
- Lteif, Aida;
- Creo, Ana;
- Pittock, Siobhan;
- Kumar, Seema
Publication type:
Article
GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease.
Published in:
2018
By:
- Pinto e Vairo, Filippo;
- Bertsch, Nicole;
- Klee, Eric W.;
- Gavrilova, Ralitza H.
Publication type:
Letter to the Editor
Precision Medicine for Lysosomal Disorders.
Published in:
Biomolecules (2218-273X), 2020, v. 10, n. 8, p. 1110, doi. 10.3390/biom10081110
By:
- Pinto e Vairo, Filippo;
- Rojas Málaga, Diana;
- Kubaski, Francyne;
- Fischinger Moura de Souza, Carolina;
- de Oliveira Poswar, Fabiano;
- Baldo, Guilherme;
- Giugliani, Roberto
Publication type:
Article
Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis.
Published in:
Lung, 2024, v. 202, n. 2, p. 151, doi. 10.1007/s00408-024-00685-3
By:
- Alrehaili, Ghadah;
- Kemppainen, Jennifer;
- Kalra, Sanjay;
- Pinto e Vairo, Filippo;
- Moua, Teng;
- Yi, Eunhee S.;
- Ferrer, Alejandro;
- Patnaik, Mrinal M.;
- Carmona, Eva M.
Publication type:
Article
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03213-x
By:
- Wilke, Matheus V. M. B.;
- Klee, Eric W.;
- Dhamija, Radhika;
- Fervenza, Fernando C.;
- Thomas, Brittany;
- Leung, Nelson;
- Hogan, Marie C.;
- Hager, Megan M.;
- Kolbert, Kayla J.;
- Kemppainen, Jennifer L.;
- Loftus, Elle C.;
- Leitzen, Katie M.;
- Vitek, Carolyn R.;
- McAllister, Tammy;
- Lazaridis, Konstantinos N.;
- Pinto e Vairo, Filippo
Publication type:
Article
Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Published in:
2024
By:
- Pinto e Vairo, Filippo;
- Kemppainen, Jennifer L.;
- Vitek, Carolyn R. Rohrer;
- Whalen, Denise A.;
- Kolbert, Kayla J.;
- Sikkink, Kaitlin J.;
- Kroc, Sarah A.;
- Kruisselbrink, Teresa;
- Shupe, Gabrielle F.;
- Knudson, Alyssa K.;
- Burke, Elizabeth M.;
- Loftus, Elle C.;
- Bandel, Lorelei A.;
- Prochnow, Carri A.;
- Mulvihill, Lindsay A.;
- Thomas, Brittany;
- Gable, Dale M.;
- Graddy, Courtney B.;
- Garzon, Giovanna G. Moreno;
- Ekpoh, Idara U.
Publication type:
Correction Notice
Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.
Published in:
2020
By:
- Pinto e Vairo, Filippo;
- Pichurin, Pavel N.;
- Fervenza, Fernando C.;
- Nasr, Samih H.;
- Mills, Kevin;
- Schmitz, Christopher T.;
- Klee, Eric W.;
- Herrmann, Sandra M.
Publication type:
journal article
Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report.
Published in:
BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01159-y
By:
- Schultz-Rogers, Laura;
- Muthusamy, Karthik;
- Pinto e Vairo, Filippo;
- Klee, Eric W.;
- Lanpher, Brendan
Publication type:
Article
Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 32, doi. 10.1002/jmd2.12212
By:
- Reichert, Roberta;
- Pérez, Juliano A.;
- Dalla‐Corte, Amauri;
- Pinto e Vairo, Filippo;
- Souza, Carolina F. M.;
- Giugliani, Roberto;
- Isolan, Gustavo R.;
- Stefani, Marco Antonio
Publication type:
Article
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Published in:
Journal of Translational Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12967-023-04183-7
By:
- Pinto e Vairo, Filippo;
- Kemppainen, Jennifer L.;
- Vitek, Carolyn R. Rohrer;
- Whalen, Denise A.;
- Kolbert, Kayla J.;
- Sikkink, Kaitlin J.;
- Kroc, Sarah A.;
- Kruisselbrink, Teresa;
- Shupe, Gabrielle F.;
- Knudson, Alyssa K.;
- Burke, Elizabeth M.;
- Loftus, Elle C.;
- Bandel, Lorelei A.;
- Prochnow, Carri A.;
- Mulvihill, Lindsay A.;
- Thomas, Brittany;
- Gable, Dale M.;
- Graddy, Courtney B.;
- Garzon, Giovanna G. Moreno;
- Ekpoh, Idara U.
Publication type:
Article
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.
Published in:
Jornal de Pediatria, 2020, v. 96, n. 6, p. 710, doi. 10.1016/j.jped.2019.05.008
By:
- Scholz de Magalhães, Ana Paula Pereira;
- Burin, Maira Graeff;
- Moura de Souza, Carolina Fischinger;
- Hendges de Bitencourt, Fernanda;
- Medeiros Sebastião, Fernanda;
- Oliveira Silva, Thiago;
- Pinto e Vairo, Filippo;
- Doederlein Schwartz, Ida Vanessa
Publication type:
Article
Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report.
Published in:
BMC Rheumatology, 2022, v. 6, n. 1, p. 1, doi. 10.1186/s41927-022-00281-z
By:
- Wilke, Matheus V. M. B.;
- Morava-Kozicz, Eva;
- Koster, Matthew J.;
- Schmitz, Christopher T.;
- Foster, Shannon Kaye;
- Patnaik, Mrinal;
- Warrington, Kenneth J.;
- Klee, Eric W.;
- Pinto e Vairo, Filippo
Publication type:
Article
Comment on: Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2).
Published in:
Rheumatology, 2021, v. 60, n. 6, p. e218, doi. 10.1093/rheumatology/keab081
By:
- Vairo, Filippo Pinto e;
- Koster, Matthew J;
- Kemppainen, Jennifer L;
- Thomas, Brittany C;
- Warrington, Kenneth J
Publication type:
Article
Attention-deficit hyperactivity disorder in Brazilian patients with phenylketonuria.
Published in:
Acta Neurologica Belgica, 2020, v. 120, n. 4, p. 893, doi. 10.1007/s13760-018-0972-2
By:
- da Silva, Fernanda Gabriel Santos;
- e Vairo, Filippo Pinto;
- de Souza, Carolina Fischinger Moura;
- Schwartz, Ida Vanessa Doederlein
Publication type:
Article
Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn's Disease.
Published in:
2020
By:
- 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.
Publication type:
Letter
RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.560
By:
- Oliver, Gavin R.;
- Blackburn, Patrick R.;
- Ellingson, Marissa S.;
- Conboy, Erin;
- Pinto e Vairo, Filippo;
- Webley, Matthew;
- Thorland, Erik;
- Ferber, Matthew;
- Van Hul, Els;
- Werf, Ilse M.;
- Wuyts, Wim;
- Babovic‐Vuksanovic, Dusica;
- Klee, Eric W.
Publication type:
Article
Clinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengths.
Published in:
2021
By:
- Mangaonkar, Abhishek A.;
- Ferrer, Alejandro;
- Vairo, Filippo Pinto E.;
- Hammel, Caleb W.;
- Prochnow, Carri;
- Gangat, Naseema;
- Hogan, William J.;
- Litzow, Mark R.;
- Peters, Steve G.;
- Scott, J. P.;
- Utz, James P.;
- Baqir, Misbah;
- Carmona-Porquera, Eva M.;
- Kalra, Sanjay;
- Sekiguchi, Hiroshi;
- Khan, Shakila P.;
- Simonetto, Douglas A.;
- Klee, Eric W.;
- Kamath, Patrick S.;
- Roden, Anja C.
Publication type:
Letter
ANÁLISE DA DENSIDADE MINERAL ÓSSEA EM PACIENTES COM FENILCETONÚRIA E SUA CORRELAÇÃO COM PARÂMETROS NUTRICIONAIS.
Published in:
Clinical & Biomedical Research, 2019, v. 39, n. 1, p. 24, doi. 10.4322/2357-9730.88599
By:
- Stocker Pérsico, Raquel;
- Nalin, Tatiéle;
- Farret Refosco, Lilia;
- Pinto e Vairo, Filippo;
- Moura de Souza, Carolina Fischinger;
- Bento dos Santos, Bruna;
- Doederlein Schwartz, Ida Vanessa
Publication type:
Article
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult‐Onset Demyelinating Leukodystrophy.
Published in:
Annals of Neurology, 2024, v. 96, n. 5, p. 855, doi. 10.1002/ana.27038
By:
- Dimartino, Paola;
- Zadorozhna, Mariia;
- Yumiceba, Verónica;
- Basile, Anna;
- Cani, Ilaria;
- Melo, Uirá Souto;
- Henck, Jana;
- Breur, Marjolein;
- Tonon, Caterina;
- Lodi, Raffaele;
- Brusco, Alfredo;
- Pippucci, Tommaso;
- Koufi, Foteini‐Dionysia;
- Boschetti, Elisa;
- Ramazzotti, Giulia;
- Manzoli, Lucia;
- Ratti, Stefano;
- Pinto E Vairo, Filippo;
- Delatycki, Martin B.;
- Vaula, Giovanna
Publication type:
Article
Maple syrup urine disease: mechanisms and management.
Published in:
Application of Clinical Genetics, 2017, v. 10, p. 57, doi. 10.2147/tacg.s125962
By:
- Blackburn, Patrick R.;
- Gass, Jennifer M.;
- Vairo, Filippo Pinto e.;
- Farnham, Kristen M.;
- Atwal, Herjot K.;
- Macklin, Sarah;
- Klee, Eric W.;
- Atwal, Paldeep S.
Publication type:
Article
Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis.
Published in:
PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0184065
By:
- Dornelles, Alícia Dorneles;
- Artigalás, Osvaldo;
- da Silva, André Anjos;
- Ardila, Dora Lucia Vallejo;
- Alegra, Taciane;
- Pereira, Tiago Veiga;
- Vairo, Filippo Pinto e;
- Schwartz, Ida Vanessa Doederlein
Publication type:
Article

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