Iolascon A - Search Results

1

RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism.

Errichiello E, Giorda R, Gambale A, Iolascon A, Zuffardi O, Giglio S. Errichiello E, et al. Among authors: iolascon a. Mol Genet Genomic Med. 2021 Jan;9(1):e1561. doi: 10.1002/mgg3.1561. Epub 2020 Dec 19. Mol Genet Genomic Med. 2021. PMID: 33340270 Free PMC article.

2

MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness.

Capasso M, Ayala F, Avvisati RA, Russo R, Gambale A, Mozzillo N, Ascierto PA, Iolascon A. Capasso M, et al. Among authors: iolascon a. J Hum Genet. 2010 Aug;55(8):518-24. doi: 10.1038/jhg.2010.62. Epub 2010 Jun 10. J Hum Genet. 2010. PMID: 20535124

3

Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.

Russo R, Esposito MR, Asci R, Gambale A, Perrotta S, Ramenghi U, Forni GL, Uygun V, Delaunay J, Iolascon A. Russo R, et al. Among authors: iolascon a. Am J Hematol. 2010 Dec;85(12):915-20. doi: 10.1002/ajh.21866. Am J Hematol. 2010. PMID: 20941788 Free PMC article.

4

Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.

Russo R, Gambale A, Esposito MR, Serra ML, Troiano A, De Maggio I, Capasso M, Luzzatto L, Delaunay J, Tamary H, Iolascon A. Russo R, et al. Among authors: iolascon a. Am J Hematol. 2011 Sep;86(9):727-32. doi: 10.1002/ajh.22096. Am J Hematol. 2011. PMID: 21850656 Free PMC article.

5

Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.

Russo R, Langella C, Esposito MR, Gambale A, Vitiello F, Vallefuoco F, Ek T, Yang E, Iolascon A. Russo R, et al. Among authors: iolascon a. Blood Cells Mol Dis. 2013 Jun;51(1):17-21. doi: 10.1016/j.bcmd.2013.02.003. Epub 2013 Mar 1. Blood Cells Mol Dis. 2013. PMID: 23453696 Free PMC article.

6

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

Andolfo I, Alper SL, De Franceschi L, Auriemma C, Russo R, De Falco L, Vallefuoco F, Esposito MR, Vandorpe DH, Shmukler BE, Narayan R, Montanaro D, D'Armiento M, Vetro A, Limongelli I, Zuffardi O, Glader BE, Schrier SL, Brugnara C, Stewart GW, Delaunay J, Iolascon A. Andolfo I, et al. Among authors: iolascon a. Blood. 2013 May 9;121(19):3925-35, S1-12. doi: 10.1182/blood-2013-02-482489. Epub 2013 Mar 11. Blood. 2013. PMID: 23479567 Free article.

7

Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.

Russo R, Gambale A, Langella C, Andolfo I, Unal S, Iolascon A. Russo R, et al. Among authors: iolascon a. Am J Hematol. 2014 Oct;89(10):E169-75. doi: 10.1002/ajh.23800. Epub 2014 Jul 22. Am J Hematol. 2014. PMID: 25044164 Free article.

8

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. Di Pierro E, et al. Among authors: iolascon a. Eur J Haematol. 2015 Jun;94(6):491-7. doi: 10.1111/ejh.12452. Epub 2014 Oct 25. Eur J Haematol. 2015. PMID: 25251786

9

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. Andolfo I, et al. Among authors: iolascon a. Am J Hematol. 2015 Oct;90(10):921-6. doi: 10.1002/ajh.24117. Am J Hematol. 2015. PMID: 26178367 Free article. Clinical Trial.

10

Diagnosis and management of congenital dyserythropoietic anemias.

Gambale A, Iolascon A, Andolfo I, Russo R. Gambale A, et al. Among authors: iolascon a. Expert Rev Hematol. 2016 Mar;9(3):283-96. doi: 10.1586/17474086.2016.1131608. Epub 2016 Jan 6. Expert Rev Hematol. 2016. PMID: 26653117 Review.

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