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Page 1
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Bury L, Megy K, Stephens JC, Grassi L, Greene D, Gleadall N, Althaus K, Allsup D, Bariana TK, Bonduel M, Butta NV, Collins P, Curry N, Deevi SVV, Downes K, Duarte D, Elliott K, Falcinelli E, Furie B, Keeling D, Lambert MP, Linger R, Mangles S, Mapeta R, Millar CM, Penkett C, Perry DJ, Stirrups KE, Turro E, Westbury SK, Wu J, BioResource N, Gomez K, Freson K, Ouwehand WH, Gresele P, Simeoni I. Bury L, et al. Among authors: bonduel m. Hum Mutat. 2020 Jan;41(1):277-290. doi: 10.1002/humu.23927. Epub 2019 Oct 15. Hum Mutat. 2020. PMID: 31562665 Free PMC article.
Phenotypic and genotypic characterization of glucose-6-phosphate dehydrogenase deficiency in Argentina. Retrospective and descriptive study.
Eandi Eberle S, Pepe C, Chaves A, Aguirre F, Milanesio B, Fernández D, Ávalos Gómez V, Sciuccati G, Díaz LA, Candas A, Cervio C, Bonduel M, Feliu Torres A. Eandi Eberle S, et al. Among authors: bonduel m. Arch Argent Pediatr. 2019 Aug 1;117(4):263-270. doi: 10.5546/aap.2019.eng.267. Arch Argent Pediatr. 2019. PMID: 31339274 Free article. English, Spanish.
Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.
Nurden AT, Pillois X, Fiore M, Alessi MC, Bonduel M, Dreyfus M, Goudemand J, Gruel Y, Benabdallah-Guerida S, Latger-Cannard V, Négrier C, Nugent D, Oiron RD, Rand ML, Sié P, Trossaert M, Alberio L, Martins N, Sirvain-Trukniewicz P, Couloux A, Canault M, Fronthroth JP, Fretigny M, Nurden P, Heilig R, Vinciguerra C. Nurden AT, et al. Among authors: bonduel m. Hum Mutat. 2015 May;36(5):548-61. doi: 10.1002/humu.22776. Hum Mutat. 2015. PMID: 25728920 Free article.
[Beta thalassemia intermedia: clinical characteristics and molecular analysis. Case series].
Eandi Eberle S, Pepe C, Aguirre F, Milanesio B, Fernández D, Mansini A, Chávez A, Sciuccati G, Díaz L, Candás A, Avalos Gómez V, Bonduel M, Feliú Torres A. Eandi Eberle S, et al. Among authors: bonduel m. Arch Argent Pediatr. 2015 Oct;113(5):e294-8. doi: 10.5546/aap.2015.e294. Arch Argent Pediatr. 2015. PMID: 26294166 Free article. Spanish.
[Glucose 6 phosphate dehydrogenase deficiency: a case series].
Eandi Eberle S, García Rosolen N, Urtasun C, Sciuccati G, Díaz L, Savietto V, Candás A, Avalos Gómez V, Cervio C, Bonduel M, Feliú Torres A. Eandi Eberle S, et al. Among authors: bonduel m. Arch Argent Pediatr. 2011 Aug;109(4):354-6. doi: 10.5546/aap.2011.354. Arch Argent Pediatr. 2011. PMID: 21829878 Spanish.
[Severe hemolytic anemia due to hemoglobin Southampton: case report].
Avalos Gómez V, Eandi Eberle S, Pepe C, Sciuccati G, García Rosolen N, Cervio C, Díaz L, Candás A, Bonduel M, Piazza G, Chaves D, Feliú Torres A. Avalos Gómez V, et al. Among authors: bonduel m. Arch Argent Pediatr. 2012 Oct;110(5):e91-4. doi: 10.5546/aap.2012.e91. Arch Argent Pediatr. 2012. PMID: 23070193 Free article. Spanish.
A new β(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in an Argentinean family associated with secondary genetic modifiers of β-thalassemia.
Pepe C, Eberle SE, Chaves A, Milanesio B, Aguirre FM, Gómez VA, Diaz L, Mansini AP, Fernandez DA, Sciuccati G, Candas A, Cervio C, Bonduel M, Feliú-Torres A. Pepe C, et al. Among authors: bonduel m. Hemoglobin. 2014;38(6):444-6. doi: 10.3109/03630269.2014.964361. Epub 2014 Sep 30. Hemoglobin. 2014. PMID: 25268796
Impact of inherited thrombophilia on venous thromboembolism in children: a systematic review and meta-analysis of observational studies.
Young G, Albisetti M, Bonduel M, Brandao L, Chan A, Friedrichs F, Goldenberg NA, Grabowski E, Heller C, Journeycake J, Kenet G, Krümpel A, Kurnik K, Lubetsky A, Male C, Manco-Johnson M, Mathew P, Monagle P, van Ommen H, Simioni P, Svirin P, Tormene D, Nowak-Göttl U. Young G, et al. Among authors: bonduel m. Circulation. 2008 Sep 23;118(13):1373-82. doi: 10.1161/CIRCULATIONAHA.108.789008. Epub 2008 Sep 8. Circulation. 2008. PMID: 18779442 Free article. Review.
54 results