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Items: 1 to 50 of 331

1.

Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene.

Avitabile M, Succoio M, Testori A, Cardinale A, Vaksman Z, Lasorsa VA, Cantalupo S, Esposito M, Cimmino F, Montella A, Formicola D, Koster J, Andreotti V, Ghiorzo P, Romano MF, Staibano S, Scalvenzi M, Ayala F, Hakonarson H, Corrias MV, Devoto M, Law MH, Iles MM, Brown K, Diskin S, Zambrano N, Iolascon A, Capasso M.

Carcinogenesis. 2019 Sep 7. pii: bgz153. doi: 10.1093/carcin/bgz153. [Epub ahead of print]

PMID:
31605138
2.

Bitopertin, a selective oral GLYT1 inhibitor, improves anemia in a mouse model of beta-thalassemia.

Matte A, Federti E, Winter M, Koerner A, Harmeier A, Mazer N, Tomka T, Di Paolo ML, De Falco L, Andolfo I, Beneduce E, Iolascon A, Macias-Garcia A, Chen JJ, Janin A, Leboeuf C, Turrini F, Brugnara C, De Franceschi L.

JCI Insight. 2019 Oct 8. pii: 130111. doi: 10.1172/jci.insight.130111. [Epub ahead of print]

3.

Hematopoietic Stem Cell Transplantation in Congenital Dyserythropetic Anemia Type II: A Case Report and Review of the Literature.

Uygun V, Russo R, Karasu G, Daloğlu H, Iolascon A, Yeşilipek A.

J Pediatr Hematol Oncol. 2019 Oct 4. doi: 10.1097/MPH.0000000000001612. [Epub ahead of print]

PMID:
31593005
4.

CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia.

Tornador C, Sánchez-Prados E, Cadenas B, Russo R, Venturi V, Andolfo I, Hernández-Rodriguez I, Iolascon A, Sánchez M.

Front Physiol. 2019 Sep 13;10:1063. doi: 10.3389/fphys.2019.01063. eCollection 2019.

5.

Exploring Shared Susceptibility between Two Neural Crest Cells Originating Conditions: Neuroblastoma and Congenital Heart Disease.

Testori A, Lasorsa VA, Cimmino F, Cantalupo S, Cardinale A, Avitabile M, Limongelli G, Russo MG, Diskin S, Maris J, Devoto M, Keavney B, Cordell HJ, Iolascon A, Capasso M.

Genes (Basel). 2019 Aug 30;10(9). pii: E663. doi: 10.3390/genes10090663.

6.

The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant.

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

Am J Hematol. 2019 Nov;94(11):1227-1235. doi: 10.1002/ajh.25613. Epub 2019 Aug 30.

PMID:
31400017
7.

Advances in understanding the pathogenesis of red cell membrane disorders.

Iolascon A, Andolfo I, Russo R.

Br J Haematol. 2019 Oct;187(1):13-24. doi: 10.1111/bjh.16126. Epub 2019 Jul 31. Review.

PMID:
31364155
8.

Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition.

Gambale A, Russo R, Andolfo I, Quaglietta L, De Rosa G, Contestabile V, De Martino L, Genesio R, Pignataro P, Giglio S, Capasso M, Parasole R, Pasini B, Iolascon A.

Clin Genet. 2019 Oct;96(4):359-365. doi: 10.1111/cge.13600. Epub 2019 Jul 15.

PMID:
31278746
9.

Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein.

Russo R, Marra R, Andolfo I, De Rosa G, Rosato BE, Manna F, Gambale A, Raia M, Unal S, Barella S, Iolascon A.

Front Physiol. 2019 May 22;10:621. doi: 10.3389/fphys.2019.00621. eCollection 2019.

10.

Molecular diagnosis of MODY3 permitted to reveal a de novo 12q24.31 deletion and to explain a complex phenotype in a young diabetic patient.

Iafusco F, De Sanctis P, Pirozzi D, Capone S, Lombardo B, Gambale A, Confetto S, Zanfardino A, Iolascon A, Pastore L, Iafusco D, Tinto N.

Clin Chem Lab Med. 2019 Jun 11. pii: /j/cclm.ahead-of-print/cclm-2019-0137/cclm-2019-0137.xml. doi: 10.1515/cclm-2019-0137. [Epub ahead of print] No abstract available.

PMID:
31188748
11.

Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ hereditary xerocytosis red cells.

Rivera A, Vandorpe DH, Shmukler BE, Andolfo I, Iolascon A, Archer NM, Shabani E, Auerbach M, Hamerschlak N, Morton J, Wohlgemuth JG, Brugnara C, Snyder LM, Alper SL.

Am J Physiol Cell Physiol. 2019 Aug 1;317(2):C287-C302. doi: 10.1152/ajpcell.00074.2019. Epub 2019 May 15.

PMID:
31091145
12.

PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells.

Andolfo I, De Rosa G, Errichiello E, Manna F, Rosato BE, Gambale A, Vetro A, Calcaterra V, Pelizzo G, De Franceschi L, Zuffardi O, Russo R, Iolascon A.

Front Physiol. 2019 Mar 15;10:258. doi: 10.3389/fphys.2019.00258. eCollection 2019.

13.

Increased Red Cell KCNN4 Activity in Sporadic Hereditary Xerocytosis Associated With Enhanced Single Channel Pressure Sensitivity of PIEZO1 Mutant V598M.

Gnanasambandam R, Rivera A, Vandorpe DH, Shmukler BE, Brugnara C, Snyder LM, Andolfo I, Iolascon A, Silveira PA, Hamerschlak N, Gottlieb P, Alper SL.

Hemasphere. 2018 Oct;2(5):e55. doi: 10.1097/HS9.0000000000000055. Epub 2018 Oct 2.

14.

HIF-1 transcription activity: HIF1A driven response in normoxia and in hypoxia.

Cimmino F, Avitabile M, Lasorsa VA, Montella A, Pezone L, Cantalupo S, Visconte F, Corrias MV, Iolascon A, Capasso M.

BMC Med Genet. 2019 Feb 26;20(1):37. doi: 10.1186/s12881-019-0767-1.

15.

Resolution of sickle cell disease-associated inflammation and tissue damage with 17R-resolvin D1.

Matte A, Recchiuti A, Federti E, Koehl B, Mintz T, El Nemer W, Tharaux PL, Brousse V, Andolfo I, Lamolinara A, Weinberg O, Siciliano A, Norris PC, Riley IR, Iolascon A, Serhan CN, Brugnara C, De Franceschi L.

Blood. 2019 Jan 17;133(3):252-265. doi: 10.1182/blood-2018-07-865378. Epub 2018 Nov 7.

PMID:
30404812
16.

Fyn kinase is a novel modulator of erythropoietin signaling and stress erythropoiesis.

Beneduce E, Matte A, De Falco L, Mbiandjeu S, Chiabrando D, Tolosano E, Federti E, Petrillo S, Mohandas N, Siciliano A, Babu W, Menon V, Ghaffari S, Iolascon A, De Franceschi L.

Am J Hematol. 2019 Jan;94(1):10-20. doi: 10.1002/ajh.25295. Epub 2018 Oct 25.

PMID:
30252956
17.

Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients.

Andolfo I, Russo R, Rosato BE, Manna F, Gambale A, Brugnara C, Iolascon A.

Am J Hematol. 2018 Dec;93(12):1509-1517. doi: 10.1002/ajh.25276. Epub 2018 Oct 2.

PMID:
30187933
18.

Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor.

Cimmino F, Avitabile M, Diskin SJ, Vaksman Z, Pignataro P, Formicola D, Cardinale A, Testori A, Koster J, de Torres C, Devoto M, Maris JM, Iolascon A, Capasso M.

Int J Cancer. 2018 Dec 1;143(11):2828-2837. doi: 10.1002/ijc.31822. Epub 2018 Oct 4.

PMID:
30132831
19.

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 RJ, 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. Erratum in: Blood. 2018 Sep 20;132(12):1355.

20.

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
21.

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.

22.

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
23.

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.

24.

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.

25.

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.

26.

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.

27.

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
28.

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
29.

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
30.

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
31.

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.

32.

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
33.

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
34.

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.

35.

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.

36.

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.

37.

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
38.

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.

39.

Tomographic flow cytometry by digital holography.

Merola F, Memmolo P, Miccio L, Savoia R, Mugnano M, Fontana A, D'Ippolito G, Sardo A, Iolascon A, Gambale A, Ferraro P.

Light Sci Appl. 2017 Apr 7;6(4):e16241. doi: 10.1038/lsa.2016.241. eCollection 2017 Apr.

40.

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
41.

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.

42.

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.

43.

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
44.

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.

PMID:
27540014
45.

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.

46.

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.

47.

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.

48.

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.

49.

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.

50.

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.

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