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Page 1
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Bonora E, et al. Among authors: raiola g. Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. Brain. 2021. PMID: 33855352 Free article.
T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.
Brigida I, Zoccolillo M, Cicalese MP, Pfajfer L, Barzaghi F, Scala S, Oleaga-Quintas C, Álvarez-Álvarez JA, Sereni L, Giannelli S, Sartirana C, Dionisio F, Pavesi L, Benavides-Nieto M, Basso-Ricci L, Capasso P, Mazzi B, Rosain J, Marcus N, Lee YN, Somech R, Degano M, Raiola G, Caorsi R, Picco P, Moncada Velez M, Khourieh J, Arias AA, Bousfiha A, Issekutz T, Issekutz A, Boisson B, Dobbs K, Villa A, Lombardo A, Neven B, Moshous D, Casanova JL, Franco JL, Notarangelo LD, Scielzo C, Volpi S, Dupré L, Bustamante J, Gattorno M, Aiuti A. Brigida I, et al. Among authors: raiola g. Blood. 2018 Nov 29;132(22):2362-2374. doi: 10.1182/blood-2018-07-863431. Epub 2018 Sep 25. Blood. 2018. PMID: 30254128 Free PMC article.
Hereditary red blood cell membrane defects. Detection of PIEZO1 mutations associated with SPTA1 mutations. An unusual clinical case of hereditary xerocytosis.
Fortugno C, Galea E, Cantaffa R, Gigliotti F, Fabiano RL, Talarico V, Raiola G, Galati MC. Fortugno C, et al. Among authors: raiola g. Pediatr Hematol Oncol. 2021 Mar;38(2):184-190. doi: 10.1080/08880018.2020.1829219. Epub 2020 Nov 2. Pediatr Hematol Oncol. 2021. PMID: 33136529 No abstract available.
Short stature and body proportion in thalassaemia.
Caruso-Nicoletti M, De Sanctis V, Capra M, Cardinale G, Cuccia L, Di Gregorio F, Filosa A, Galati MC, Lauriola A, Malizia R, Mangiagli A, Massolo F, Mastrangelo C, Meo A, Messina MF, Ponzi G, Raiola G, Ruggiero L, Tamborino G, Saviano A. Caruso-Nicoletti M, et al. Among authors: raiola g. J Pediatr Endocrinol Metab. 1998;11 Suppl 3:811-6. J Pediatr Endocrinol Metab. 1998. PMID: 10091151
[Chest pain in adolescents].
Raiola G, Galati MC, De Sanctis V, Salerno D, Arcuri VM, Mussari A. Raiola G, et al. Minerva Pediatr. 2002 Dec;54(6):623-30. Minerva Pediatr. 2002. PMID: 12388953 Review. Italian.
Growth and puberty in thalassemia major.
Raiola G, Galati MC, De Sanctis V, Caruso Nicoletti M, Pintor C, De Simone M, Arcuri VM, Anastasi S. Raiola G, et al. J Pediatr Endocrinol Metab. 2003 Mar;16 Suppl 2:259-66. J Pediatr Endocrinol Metab. 2003. PMID: 12729401 Review.
Effects of acarbose in patients with beta-thalassaemia major and abnormal glucose homeostasis.
Mangiagli A, Campisi S, De Sanctis V, Nicoletti MC, Cardinale G, Galati MC, Raiola G, Rigano P, Saviano A; Study Group of the Italian Pediatric and Diabetes Soceity (SIEDP) on Endocrine Complicaionts in Non-Endocrine Disease. Mangiagli A, et al. Among authors: raiola g. Pediatr Endocrinol Rev. 2004 Dec;2 Suppl 2:276-8. Pediatr Endocrinol Rev. 2004. PMID: 16462708 Clinical Trial.
Effects of acarbose in beta-thalassaemia major patients with normal glucose tolerance and hyperinsulinism.
Mangiagli A, Campisi S, De Sanctis V, Nicoletti MC, Cardinale G, Galati MC, Raiola G, Rigano P, Saviano A; Study Group of the Italian Pediatric and Diabetes Soceity (SIEDP) on Endocrine Complicaionts in Non-Endocrine Disease. Mangiagli A, et al. Among authors: raiola g. Pediatr Endocrinol Rev. 2004 Dec;2 Suppl 2:272-5. Pediatr Endocrinol Rev. 2004. PMID: 16462710 Clinical Trial.
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