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Author/Creator Pinto e Vairo, Filippo

1. Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients. (22nd June 2020)

Authors:
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.
Journal:
British journal of haematology
Issue:
Volume 190:Number 5(2020)
Page Start:
e316
Record Type:
Journal Article
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3. Cytokine profiling in patients with hepatic glycogen storage disease: Are there clues for unsolved aspects?. (February 2023)

Authors:
Colonetti, Karina; Pinto e Vairo, Filippo; Siebert, Marina; Nalin, Tatiéle; Poloni, Soraia; Fernando Wurdig Roesch, Luiz; Fischinger Moura de Souza, Carolina; Cabral Pinheiro, Franciele; Vanessa Doederlein Schwartz, Ida
Journal:
Cytokine
Issue:
Volume 162(2023)
Page Start:
Record Type:
Journal Article
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4. De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype. Issue 3 (19th November 2021)

Authors:
Safgren, Stephanie L.; Olson, Rory J.; Pinto e Vairo, Filippo; Bothun, Erick D.; Hanna, Christian; Klee, Eric W.; Schimmenti, Lisa A.
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 3(2022)
Page Start:
919
Record Type:
Journal Article
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5. Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder. Issue 11 (12th September 2020)

Authors:
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.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 11(2020)
Page Start:
n/a
Record Type:
Journal Article
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6. Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder. Issue 11 (12th September 2020)

Authors:
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.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 11(2020)
Page Start:
n/a
Record Type:
Journal Article
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7. Incorporation of Genetic Studies in the Kidney Transplant Evaluation Clinic: The Value of a Multidisciplinary Approach. Issue 4 (31st March 2023)

Authors:
El Ters, Mireille; Pinto e Vairo, Filippo; Prochnow, Carri; Schinstock, Carrie; Dean, Patrick; Kemppainen, Jennifer; Lazaridis, Konstantinos; Cosio, Fernando; Fervenza, Fernando C.; Cornell, Lynn; Amer, Hatem; Hogan, Marie C.
Journal:
Transplantation
Issue:
Volume 107:Issue 4(2023)
Page Start:
952
Record Type:
Journal Article
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8. Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis. Issue 1 (21st March 2021)

Authors:
Reichert, Roberta; Pérez, Juliano A.; Dalla‐Corte, Amauri; Pinto e Vairo, Filippo; de Souza, Carolina F. M.; Giugliani, Roberto; Isolan, Gustavo R.; Stefani, Marco Antonio
Journal:
JIMD reports
Issue:
Volume 60:Issue 1(2021)
Page Start:
32
Record Type:
Journal Article
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9. RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas. Issue 3 (10th January 2019)

Authors:
Oliver, Gavin R.; Blackburn, Patrick R.; Ellingson, Marissa S.; Conboy, Erin; Pinto e Vairo, Filippo; Webley, Matthew; Thorland, Erik; Ferber, Matthew; Van Hul, Els; van der Werf, Ilse M.; Wuyts, Wim; Babovic‐Vuksanovic, Dusica; Klee, Eric W.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 3(2019)
Page Start:
n/a
Record Type:
Journal Article
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10. TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. Issue 8 (27th May 2021)

Authors:
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...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 8(2021)
Page Start:
2417
Record Type:
Journal Article
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