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Items: 1 to 50 of 312

1.

Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency.

Heeney MM, Guo D, De Falco L, Campagna DR, Olbina G, Kao PP, Schmitz-Abe K, Rahimov F, Gutschow P, Westerman K, Ostland V, Jackson T, Klaassen RE, Markianos K, Finberg KE, Iolascon A, Westerman M, London WB, Fleming MD.

Blood. 2018 Jul 26;132(4):448-452. doi: 10.1182/blood-2017-03-773028. Epub 2018 Jun 12. No abstract available.

PMID:
29895660
2.

Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias.

Mugnano M, Memmolo P, Miccio L, Merola F, Bianco V, Bramanti A, Gambale A, Russo R, Andolfo I, Iolascon A, Ferraro P.

Anal Chem. 2018 Jun 19;90(12):7495-7501. doi: 10.1021/acs.analchem.8b01076. Epub 2018 Jun 4.

PMID:
29792684
3.

Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.

Russo R, Andolfo I, Manna F, Gambale A, Marra R, Rosato BE, Caforio P, Pinto V, Pignataro P, Radhakrishnan K, Unal S, Tomaiuolo G, Forni GL, Iolascon A.

Am J Hematol. 2018 May;93(5):672-682. doi: 10.1002/ajh.25058. Epub 2018 Feb 24.

PMID:
29396846
4.

Microcytosis is important in screening of iron deficiency anemia.

De Franceschi L, Iolascon A, Taher A, Cappellini MD.

Eur J Intern Med. 2018 Feb;48:e39. doi: 10.1016/j.ejim.2017.08.021. Epub 2018 Feb 1. No abstract available.

PMID:
29361474
5.

The role of TMPRSS6 and HFE variants in iron deficiency anemia in celiac disease.

De Falco L, Tortora R, Imperatore N, Bruno M, Capasso M, Girelli D, Castagna A, Caporaso N, Iolascon A, Rispo A.

Am J Hematol. 2018 Mar;93(3):383-393. doi: 10.1002/ajh.24991. Epub 2017 Dec 18.

PMID:
29194702
6.

PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.

Andolfo I, Manna F, De Rosa G, Rosato BE, Gambale A, Tomaiuolo G, Carciati A, Marra R, De Franceschi L, Iolascon A, Russo R.

Haematologica. 2018 Mar;103(3):e94-e97. doi: 10.3324/haematol.2017.180687. Epub 2017 Nov 30. No abstract available.

7.

Data demonstrating the role of peroxiredoxin 2 as important anti-oxidant system in lung homeostasis.

Federti E, Matte A, Ghigo A, Andolfo I, James C, Siciliano A, Leboeuf C, Janin A, Manna F, Choi SY, Iolascon A, Beneduce E, Melisi D, Kim DW, Levi S, De Franceschi L.

Data Brief. 2017 Sep 30;15:376-381. doi: 10.1016/j.dib.2017.09.062. eCollection 2017 Dec.

8.

Hereditary stomatocytosis: An underdiagnosed condition.

Andolfo I, Russo R, Gambale A, Iolascon A.

Am J Hematol. 2018 Jan;93(1):107-121. doi: 10.1002/ajh.24929. Epub 2017 Oct 23. Review.

PMID:
28971506
9.

Kinome expression profiling of human neuroblastoma tumors identifies potential drug targets for ultra high-risk patients.

Russo R, Cimmino F, Pezone L, Manna F, Avitabile M, Langella C, Koster J, Casale F, Raia M, Viola G, Fischer M, Iolascon A, Capasso M.

Carcinogenesis. 2017 Oct 1;38(10):1011-1020. doi: 10.1093/carcin/bgx077.

PMID:
28968651
10.

Peroxiredoxin-2 plays a pivotal role as multimodal cytoprotector in the early phase of pulmonary hypertension.

Federti E, Matté A, Ghigo A, Andolfo I, James C, Siciliano A, Leboeuf C, Janin A, Manna F, Choi SY, Iolascon A, Beneduce E, Melisi D, Kim DW, Levi S, De Franceschi L.

Free Radic Biol Med. 2017 Nov;112:376-386. doi: 10.1016/j.freeradbiomed.2017.08.004. Epub 2017 Aug 9.

PMID:
28801243
11.

Peroxiredoxin-2: A Novel Regulator of Iron Homeostasis in Ineffective Erythropoiesis.

Matte A, De Falco L, Federti E, Cozzi A, Iolascon A, Levi S, Mohandas N, Zamo A, Bruno M, Lebouef C, Janin A, Siciliano A, Ganz T, Federico G, Carlomagno F, Mueller S, Silva I, Carbone C, Melisi D, Kim DW, Choi SY, De Franceschi L.

Antioxid Redox Signal. 2018 Jan 1;28(1):1-14. doi: 10.1089/ars.2017.7051. Epub 2017 Sep 6.

PMID:
28793778
12.

Erratum to: Association Study between Coronary Artery Disease and rs1333049 Polymorphism at 9p21.3 Locus in Italian Population.

Pignataro P, Pezone L, Di Gioia G, Franco D, Iaccarino G, Iolascon A, Ciccarelli M, Capasso M.

J Cardiovasc Transl Res. 2017 Dec;10(5-6):459. doi: 10.1007/s12265-017-9762-0. No abstract available.

PMID:
28702920
13.

Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis.

Al-Riyami AZ, Iolascon A, Al-Zadjali S, Andolfo I, Al-Mammari S, Manna F, Al Rawas A, King MJ, Russo R.

Am J Hematol. 2017 Oct;92(10):E607-E609. doi: 10.1002/ajh.24853. Epub 2017 Jul 29. No abstract available.

PMID:
28699249
14.

Association Study Between Coronary Artery Disease and rs1333049 Polymorphism at 9p21.3 Locus in Italian Population.

Pignataro P, Pezone L, Di Gioia G, Franco D, Iaccarino G, Iolascon A, Ciccarelli M, Capasso M.

J Cardiovasc Transl Res. 2017 Dec;10(5-6):455-458. doi: 10.1007/s12265-017-9758-9. Epub 2017 Jun 21. Erratum in: J Cardiovasc Transl Res. 2017 Jul 12;:.

PMID:
28639227
15.

Diagnosis and molecular characterization of a novel α0 -thalassemia deletion (-Kozani) found in a Greek child with unexplained microcytic hypochromic anemia.

Makis A, Georgiou I, Traeger-Synodinos J, Chaliasos N, Grosso M, Gambale A, Iolascon A.

Int J Lab Hematol. 2017 Oct;39(5):e124-e126. doi: 10.1111/ijlh.12690. Epub 2017 Jun 12. No abstract available.

PMID:
28603861
16.

GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II.

Russo R, Andolfo I, Gambale A, De Rosa G, Manna F, Arillo A, Wandroo F, Bisconte MG, Iolascon A.

Haematologica. 2017 Sep;102(9):e371-e374. doi: 10.3324/haematol.2016.162966. Epub 2017 May 26. No abstract available.

17.

Recommendations regarding splenectomy in hereditary hemolytic anemias.

Iolascon A, Andolfo I, Barcellini W, Corcione F, Garçon L, De Franceschi L, Pignata C, Graziadei G, Pospisilova D, Rees DC, de Montalembert M, Rivella S, Gambale A, Russo R, Ribeiro L, Vives-Corrons J, Martinez PA, Kattamis A, Gulbis B, Cappellini MD, Roberts I, Tamary H; Working Study Group on Red Cells and Iron of the EHA.

Haematologica. 2017 Aug;102(8):1304-1313. doi: 10.3324/haematol.2016.161166. Epub 2017 May 26.

18.

Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma.

McDaniel LD, Conkrite KL, Chang X, Capasso M, Vaksman Z, Oldridge DA, Zachariou A, Horn M, Diamond M, Hou C, Iolascon A, Hakonarson H, Rahman N, Devoto M, Diskin SJ.

PLoS Genet. 2017 May 18;13(5):e1006787. doi: 10.1371/journal.pgen.1006787. eCollection 2017 May.

19.

Clinical management of iron deficiency anemia in adults: Systemic review on advances in diagnosis and treatment.

De Franceschi L, Iolascon A, Taher A, Cappellini MD.

Eur J Intern Med. 2017 Jul;42:16-23. doi: 10.1016/j.ejim.2017.04.018. Epub 2017 May 18. Review.

PMID:
28528999
20.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

Novara F, Rinaldi B, Sisodiya SM, Coppola A, Giglio S, Stanzial F, Benedicenti F, Donaldson A, Andrieux J, Stapleton R, Weber A, Reho P, van Ravenswaaij-Arts C, Kerstjens-Frederikse WS, Vermeesch JR, Devriendt K, Bacino CA, Delahaye A, Maas SM, Iolascon A, Zuffardi O.

Eur J Hum Genet. 2017 Jun;25(6):694-701. doi: 10.1038/ejhg.2017.49. Epub 2017 Apr 19.

21.

Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.

Falco M, Franzè A, Iossa S, De Falco L, Gambale A, Marciano E, Iolascon A.

Am J Med Genet A. 2017 May;173(5):1348-1352. doi: 10.1002/ajmg.a.38146. Epub 2017 Mar 21.

PMID:
28322498
22.

Pesticide toxicogenomics across scales: in vitro transcriptome predicts mechanisms and outcomes of exposure in vivo.

Porreca I, D'Angelo F, De Franceschi L, Mattè A, Ceccarelli M, Iolascon A, Zamò A, Russo F, Ravo M, Tarallo R, Scarfò M, Weisz A, De Felice M, Mallardo M, Ambrosino C.

Sci Rep. 2016 Dec 1;6:38131. doi: 10.1038/srep38131.

23.

New insights on hereditary erythrocyte membrane defects.

Andolfo I, Russo R, Gambale A, Iolascon A.

Haematologica. 2016 Nov;101(11):1284-1294. Epub 2016 Oct 18. Review.

24.

Proteomic Alterations in Response to Hypoxia Inducible Factor 2α in Normoxic Neuroblastoma Cells.

Cimmino F, Pezone L, Avitabile M, Persano L, Vitale M, Sassi M, Bresolin S, Serafin V, Zambrano N, Scaloni A, Basso G, Iolascon A, Capasso M.

J Proteome Res. 2016 Oct 7;15(10):3643-3655. Epub 2016 Sep 28.

PMID:
27596920
25.

Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II.

Russo R, Andolfo I, Manna F, De Rosa G, De Falco L, Gambale A, Bruno M, Mattè A, Ricchi P, Girelli D, De Franceschi L, Iolascon A.

Blood. 2016 Oct 6;128(14):1899-1902. doi: 10.1182/blood-2016-06-724328. Epub 2016 Aug 18. No abstract available.

26.

A comprehensive characterization of rare mitochondrial DNA variants in neuroblastoma.

Calabrese FM, Clima R, Pignataro P, Lasorsa VA, Hogarty MD, Castellano A, Conte M, Tonini GP, Iolascon A, Gasparre G, Capasso M.

Oncotarget. 2016 Aug 2;7(31):49246-49258. doi: 10.18632/oncotarget.10271.

27.

An 18 gene expression-based score classifier predicts the clinical outcome in stage 4 neuroblastoma.

Formicola D, Petrosino G, Lasorsa VA, Pignataro P, Cimmino F, Vetrella S, Longo L, Tonini GP, Oberthuer A, Iolascon A, Fischer M, Capasso M.

J Transl Med. 2016 May 17;14(1):142. doi: 10.1186/s12967-016-0896-7.

28.

Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia.

Andolfo I, Russo R, Manna F, De Rosa G, Gambale A, Zouwail S, Detta N, Pardo CL, Alper SL, Brugnara C, Sharma AK, De Franceschi L, Iolascon A.

Haematologica. 2016 Aug;101(8):909-17. doi: 10.3324/haematol.2016.142372. Epub 2016 May 5.

29.

Next generation research and therapy in red blood cell diseases.

Russo R, Andolfo I, Iolascon A.

Haematologica. 2016 May;101(5):515-7. doi: 10.3324/haematol.2015.139238. No abstract available.

30.

CD55 is a HIF-2α marker with anti-adhesive and pro-invading properties in neuroblastoma.

Cimmino F, Avitabile M, Pezone L, Scalia G, Montanaro D, Andreozzi M, Terracciano L, Iolascon A, Capasso M.

Oncogenesis. 2016 Apr 4;5:e212. doi: 10.1038/oncsis.2016.20.

31.

Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression.

Lasorsa VA, Formicola D, Pignataro P, Cimmino F, Calabrese FM, Mora J, Esposito MR, Pantile M, Zanon C, De Mariano M, Longo L, Hogarty MD, de Torres C, Tonini GP, Iolascon A, Capasso M.

Oncotarget. 2016 Apr 19;7(16):21840-52. doi: 10.18632/oncotarget.8187.

32.

The European Hematology Association Roadmap for European Hematology Research: a consensus document.

Engert A, Balduini C, Brand A, Coiffier B, Cordonnier C, Döhner H, de Wit TD, Eichinger S, Fibbe W, Green T, de Haas F, Iolascon A, Jaffredo T, Rodeghiero F, Salles G, Schuringa JJ; EHA Roadmap for European Hematology Research.

Haematologica. 2016 Feb;101(2):115-208. doi: 10.3324/haematol.2015.136739. Epub 2016 Jan 27.

33.

The role of Matriptase-2 during the early postnatal development in humans.

De Falco L, Bruno M, Yilmaz-Keskin E, Sal E, Büyükavci M, Kaya Z, Girelli D, Iolascon A.

Haematologica. 2016 Apr;101(4):e126-8. doi: 10.3324/haematol.2015.139808. Epub 2016 Jan 22. No abstract available.

34.

NCOA4 Deficiency Impairs Systemic Iron Homeostasis.

Bellelli R, Federico G, Matte' A, Colecchia D, Iolascon A, Chiariello M, Santoro M, De Franceschi L, Carlomagno F.

Cell Rep. 2016 Jan 26;14(3):411-421. doi: 10.1016/j.celrep.2015.12.065. Epub 2016 Jan 14.

35.

Diagnosis and management of congenital dyserythropoietic anemias.

Gambale A, Iolascon A, Andolfo I, Russo R.

Expert Rev Hematol. 2016 Mar;9(3):283-96. doi: 10.1586/17474086.2016.1131608. Epub 2016 Jan 6. Review.

PMID:
26653117
36.

Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism.

Oldridge DA, Wood AC, Weichert-Leahey N, Crimmins I, Sussman R, Winter C, McDaniel LD, Diamond M, Hart LS, Zhu S, Durbin AD, Abraham BJ, Anders L, Tian L, Zhang S, Wei JS, Khan J, Bramlett K, Rahman N, Capasso M, Iolascon A, Gerhard DS, Guidry Auvil JM, Young RA, Hakonarson H, Diskin SJ, Look AT, Maris JM.

Nature. 2015 Dec 17;528(7582):418-21. doi: 10.1038/nature15540. Epub 2015 Nov 11.

37.

How I Diagnose Non-thalassemic Microcytic Anemias.

Bruno M, De Falco L, Iolascon A.

Semin Hematol. 2015 Oct;52(4):270-8. doi: 10.1053/j.seminhematol.2015.05.002. Epub 2015 Jun 3. Review.

PMID:
26404439
38.

Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).

Andolfo I, Russo R, Manna F, Shmukler BE, Gambale A, Vitiello G, De Rosa G, Brugnara C, Alper SL, Snyder LM, Iolascon A.

Am J Hematol. 2015 Oct;90(10):921-6. doi: 10.1002/ajh.24117.

39.

Protease inhibitors-based therapy induces acquired spherocytic-like anaemia and ineffective erythropoiesis in chronic hepatitis C virus patients.

Lupo F, Russo R, Iolascon A, Ieluzzi D, Siciliano A, Toniutto P, Matté A, Piovesan S, Raffetti E, Turrini F, Dissegna D, Donato F, Alberti A, Zuliani V, Fattovich G, De Franceschi L.

Liver Int. 2016 Jan;36(1):49-58. doi: 10.1111/liv.12900. Epub 2015 Jul 14.

PMID:
26104535
40.

The Interplay Between Peroxiredoxin-2 and Nuclear Factor-Erythroid 2 Is Important in Limiting Oxidative Mediated Dysfunction in β-Thalassemic Erythropoiesis.

Matte A, De Falco L, Iolascon A, Mohandas N, An X, Siciliano A, Leboeuf C, Janin A, Bruno M, Choi SY, Kim DW, De Franceschi L.

Antioxid Redox Signal. 2015 Dec 1;23(16):1284-97. doi: 10.1089/ars.2014.6237. Epub 2015 Jul 14.

41.

Inhibition of hypoxia inducible factors combined with all-trans retinoic acid treatment enhances glial transdifferentiation of neuroblastoma cells.

Cimmino F, Pezone L, Avitabile M, Acierno G, Andolfo I, Capasso M, Iolascon A.

Sci Rep. 2015 Jun 9;5:11158. doi: 10.1038/srep11158.

42.

Dietary ω-3 fatty acids protect against vasculopathy in a transgenic mouse model of sickle cell disease.

Kalish BT, Matte A, Andolfo I, Iolascon A, Weinberg O, Ghigo A, Cimino J, Siciliano A, Hirsch E, Federti E, Puder M, Brugnara C, De Franceschi L.

Haematologica. 2015 Jul;100(7):870-80. doi: 10.3324/haematol.2015.124586. Epub 2015 May 1.

43.

ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.

King MJ, Garçon L, Hoyer JD, Iolascon A, Picard V, Stewart G, Bianchi P, Lee SH, Zanella A; International Council for Standardization in Haematology.

Int J Lab Hematol. 2015 Jun;37(3):304-25. doi: 10.1111/ijlh.12335. Epub 2015 Mar 18.

PMID:
25790109
44.

Red cells in post-genomic era: impact of personalized medicine in the treatment of anemias.

Iolascon A, Andolfo I, Russo R.

Haematologica. 2015 Jan;100(1):3-6. doi: 10.3324/haematol.2014.120733. No abstract available.

45.

Identification of a novel variant of epsilon-gamma-delta-beta thalassemia highlights limitations of next generation sequencing.

Zebisch A, Schulz E, Grosso M, Lombardo B, Acierno G, Sill H, Iolascon A.

Am J Hematol. 2015 Mar;90(3):E52-4. doi: 10.1002/ajh.23913. Epub 2015 Jan 16. No abstract available.

46.

Transfer RNA and syndromic sideroblastic anemia.

Iolascon A.

Blood. 2014 Oct 30;124(18):2763-4. doi: 10.1182/blood-2014-09-600197. No abstract available.

47.

Common genetic variants in NEFL influence gene expression and neuroblastoma risk.

Capasso M, Diskin S, Cimmino F, Acierno G, Totaro F, Petrosino G, Pezone L, Diamond M, McDaniel L, Hakonarson H, Iolascon A, Devoto M, Maris JM.

Cancer Res. 2014 Dec 1;74(23):6913-24. doi: 10.1158/0008-5472.CAN-14-0431. Epub 2014 Oct 13.

48.

Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.

Di Pierro E, Russo R, Karakas Z, Brancaleoni V, Gambale A, Kurt I, Winter SS, Granata F, Czuchlewski DR, Langella C, Iolascon A, Cappellini MD.

Eur J Haematol. 2015 Jun;94(6):491-7. doi: 10.1111/ejh.12452. Epub 2014 Oct 25.

PMID:
25251786
49.

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.

Caridi G, Lugani F, Dagnino M, Gigante M, Iolascon A, Falco M, Graziano C, Benetti E, Dugo M, Del Prete D, Granata A, Borracelli D, Moggia E, Quaglia M, Rinaldi R, Gesualdo L, Ghiggeri GM.

Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv80-6. doi: 10.1093/ndt/gfu071.

PMID:
25165188
50.

Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.

De Falco L, Silvestri L, Kannengiesser C, Morán E, Oudin C, Rausa M, Bruno M, Aranda J, Argiles B, Yenicesu I, Falcon-Rodriguez M, Yilmaz-Keskin E, Kocak U, Beaumont C, Camaschella C, Iolascon A, Grandchamp B, Sanchez M.

Hum Mutat. 2014 Nov;35(11):1321-9. doi: 10.1002/humu.22632. Epub 2014 Sep 10.

PMID:
25156943

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