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Page 1
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.
Nicchia E, Greco C, De Rocco D, Pecile V, D'Eustacchio A, Cappelli E, Corti P, Marra N, Ramenghi U, Pillon M, Farruggia P, Dufour C, Pallavicini A, Torelli L, Savoia A. Nicchia E, et al. Among authors: ramenghi u. Mol Genet Genomic Med. 2015 Jul 2;3(6):500-12. doi: 10.1002/mgg3.160. eCollection 2015 Nov. Mol Genet Genomic Med. 2015. PMID: 26740942 Free PMC article.
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.
De Rocco D, Bottega R, Cappelli E, Cavani S, Criscuolo M, Nicchia E, Corsolini F, Greco C, Borriello A, Svahn J, Pillon M, Mecucci C, Casazza G, Verzegnassi F, Cugno C, Locasciulli A, Farruggia P, Longoni D, Ramenghi U, Barberi W, Tucci F, Perrotta S, Grammatico P, Hanenberg H, Della Ragione F, Dufour C, Savoia A; Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. De Rocco D, et al. Among authors: ramenghi u. Haematologica. 2014 Jun;99(6):1022-31. doi: 10.3324/haematol.2014.104224. Epub 2014 Feb 28. Haematologica. 2014. PMID: 24584348 Free PMC article.
Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology-Oncology).
Svahn J, Bagnasco F, Cappelli E, Onofrillo D, Caruso S, Corsolini F, De Rocco D, Savoia A, Longoni D, Pillon M, Marra N, Ramenghi U, Farruggia P, Locasciulli A, Addari C, Cerri C, Mastrodicasa E, Casazza G, Verzegnassi F, Riccardi F, Haupt R, Barone A, Cesaro S, Cugno C, Dufour C. Svahn J, et al. Among authors: ramenghi u. Am J Hematol. 2016 Jul;91(7):666-71. doi: 10.1002/ajh.24373. Epub 2016 Apr 24. Am J Hematol. 2016. PMID: 27013026 Free article.
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.
Bottega R, Nicchia E, Cappelli E, Ravera S, De Rocco D, Faleschini M, Corsolini F, Pierri F, Calvillo M, Russo G, Casazza G, Ramenghi U, Farruggia P, Dufour C, Savoia A. Bottega R, et al. Among authors: ramenghi u. Haematologica. 2018 Mar;103(3):417-426. doi: 10.3324/haematol.2017.176131. Epub 2017 Dec 21. Haematologica. 2018. PMID: 29269525 Free PMC article.
NOLA1 gene mutations in acquired aplastic anemia.
Pigullo S, Pavesi E, Dianzani I, Santamaria G, Svahn J, Risso M, Van Lint MT, Pillon M, Iori AP, Longoni D, Ramenghi U, Lanciotti M, Dufour C. Pigullo S, et al. Among authors: ramenghi u. Pediatr Blood Cancer. 2009 Mar;52(3):376-8. doi: 10.1002/pbc.21813. Pediatr Blood Cancer. 2009. PMID: 18989882
Paroxysmal nocturnal hemoglobinuria clones in children with acquired aplastic anemia: a multicentre study.
Timeus F, Crescenzio N, Longoni D, Doria A, Foglia L, Pagliano S, Vallero S, Decimi V, Svahn J, Palumbo G, Ruggiero A, Martire B, Pillon M, Marra N, Dufour C, Ramenghi U, Saracco P. Timeus F, et al. Among authors: ramenghi u. PLoS One. 2014 Jul 9;9(7):e101948. doi: 10.1371/journal.pone.0101948. eCollection 2014. PLoS One. 2014. PMID: 25007335 Free PMC article.
Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP).
Barone A, Lucarelli A, Onofrillo D, Verzegnassi F, Bonanomi S, Cesaro S, Fioredda F, Iori AP, Ladogana S, Locasciulli A, Longoni D, Lanciotti M, Macaluso A, Mandaglio R, Marra N, Martire B, Maruzzi M, Menna G, Notarangelo LD, Palazzi G, Pillon M, Ramenghi U, Russo G, Svahn J, Timeus F, Tucci F, Cugno C, Zecca M, Farruggia P, Dufour C, Saracco P; Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association. Barone A, et al. Among authors: ramenghi u. Blood Cells Mol Dis. 2015 Jun;55(1):40-7. doi: 10.1016/j.bcmd.2015.03.007. Epub 2015 Mar 31. Blood Cells Mol Dis. 2015. PMID: 25976466
Autoimmune neutropenia of childhood secondary to other autoimmune disorders: Data from the Italian neutropenia registry.
Farruggia P, Puccio G, Fioredda F, Lanza T, Porretti L, Ramenghi U, Barone A, Bonanomi S, Finocchi A, Ghilardi R, Ladogana S, Marra N, Martire B, Notarangelo LD, Onofrillo D, Pillon M, Russo G, Lo Valvo L, Serafinelli J, Tucci F, Zunica F, Verzegnassi F, Dufour C. Farruggia P, et al. Among authors: ramenghi u. Am J Hematol. 2017 Sep;92(9):E546-E549. doi: 10.1002/ajh.24803. Epub 2017 Jul 7. Am J Hematol. 2017. PMID: 28567966 Free article. No abstract available.
Diagnosis and management of neutropenia in children: The approach of the Study Group on Neutropenia and Marrow Failure Syndromes of the Pediatric Italian Hemato-Oncology Association (Associazione Italiana Emato-Oncologia Pediatrica - AIEOP).
Fioredda F, Onofrillo D, Farruggia P, Barone A, Veltroni M, Notarangelo LD, Menna G, Russo G, Martire B, Finocchi A, Verzegnassi F, Bonanomi S, Ramenghi U, Pillon M, Dufour C. Fioredda F, et al. Among authors: ramenghi u. Pediatr Blood Cancer. 2022 Jun;69(6):e29599. doi: 10.1002/pbc.29599. Epub 2022 Mar 6. Pediatr Blood Cancer. 2022. PMID: 35253359
Idiopathic neutropenia of infancy: Data from the Italian Neutropenia Registry.
Farruggia P, Fioredda F, Puccio G, Onofrillo D, Russo G, Barone A, Bonanomi S, Boscarol G, Finocchi A, Ghilardi R, Giordano P, Ladogana S, Lassandro G, Luti L, Lanza T, Mandaglio R, Marra N, Martire B, Mastrodicasa E, Motta M, Notarangelo LD, Pillon M, Porretti L, Serafinelli J, Trizzino A, Tucci F, Veltroni M, Verzegnassi F, Ramenghi U, Dufour C. Farruggia P, et al. Among authors: ramenghi u. Am J Hematol. 2019 Feb;94(2):216-222. doi: 10.1002/ajh.25353. Epub 2018 Dec 18. Am J Hematol. 2019. PMID: 30456824 Free article.
187 results