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1

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

Gambale, Antonella, Russo, Roberta, Andolfo, Immacolata, Quaglietta, Lucia, De Rosa, Gianluca, Contestabile, Valentina, De Martino, Lucia, Genesio, Rita, Pignataro, Piero, Giglio, Sabrina, Capasso, Ma

Journal:

Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 1.77 MB

english, 2019

2

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

Matte, Alessandro, Recchiuti, Antonio, Federti, Enrica, Koehl, Bérengère, Mintz, Thomas, El Nemer, Wassim, Tharaux, Pierre-Louis, Brousse, Valentine, Andolfo, Immacolata, Lamolinara, Alessia, Weinberg

Journal:

Year:

2018

Language:

english

File:

PDF, 1.63 MB

english, 2018

3

Advances in understanding the pathogenesis of red cell membrane disorders

Iolascon, Achille, Andolfo, Immacolata, Russo, Roberta

Journal:

British Journal of Haematology

Year:

2019

Language:

english

File:

PDF, 734 KB

english, 2019

4

Recommendations for Pregnancy in Rare Inherited Anemias

Taher, Ali T., Iolascon, Achille, Matar, Charbel F., Bou-Fakhredin, Rayan, de Franceschi, Lucia, Cappellini, Maria Domenica, Barcellini, Wilma, Russo, Roberta, Andolfo, Immacolata, Tyan, Paul, Gulbis,

Journal:

Year:

2020

File:

PDF, 607 KB

2020

5

Detection oferbB2copy number variations in plasma of patients with esophageal carcinoma

Immacolata Andolfo, Giuseppe Petrosino, Loredana Vecchione, Pasqualino De Antonellis, Mario Capasso, Donatella Montanaro, Marica Gemei, Giancarlo Troncone, Achille Iolascon, Michele Orditura, Fortunat

Journal:

Year:

2011

Language:

english

File:

PDF, 1.56 MB

english, 2011

6

Correlation of NM23-H1 cytoplasmic expression with metastatic stage in human prostate cancer tissue

Immacolata Andolfo, Daniela De Martino, Lucia Liguori, Giuseppe Petrosino, Giancarlo Troncone, Nicoletta Tata, Alessia Galasso, Cristin Roma, Francesco Chiancone, Stefano Zarrilli, Gianluigi Arrigoni,

Journal:

Naunyn-Schmiedeberg's Archives of Pharmacology

Year:

2011

Language:

english

File:

PDF, 469 KB

english, 2011

7

Identification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 gene

Luigia De Falco, Mariasole Bruno, Immacolata Andolfo, Beneitez Pastor David, Domenico Girelli, Francesca Di Noce, Clara Camaschella, Achille Iolascon

Journal:

British Journal of Haematology

Year:

2012

Language:

english

File:

PDF, 227 KB

english, 2012

8

Missense mutations in the ABCB6 transporter cause dominant familialpseudohyperkalemia

Andolfo, Immacolata, Alper, Seth L., Delaunay, Jean, Auriemma, Carla, Russo, Roberta, Asci, Roberta, Esposito, Maria Rosaria, Sharma, Alok K., Shmukler, Boris E., Brugnara, Carlo, De Franceschi, Lucia

Journal:

American Journal of Hematology

Year:

2013

Language:

english

File:

PDF, 921 KB

english, 2013

9

Trasferrin receptor 2 gene regulation by microRNA 221 in SH-SY5Y cells treated with MPP+ as Parkinson's disease cellular model

Asci, Roberta, Vallefuoco, Fara, Andolfo, Immacolata, Bruno, Mariasole, De Falco, Luigia, Iolascon, Achille

Journal:

Neuroscience Research

Year:

2013

Language:

english

File:

PDF, 1.07 MB

english, 2013

10

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, Roberta, Gambale, Antonella, Langella, Concetta, Andolfo, Immacolata, Unal, Sule, Iolascon, Achille

Journal:

American Journal of Hematology

Year:

2014

Language:

english

File:

PDF, 784 KB

english, 2014

11

Hereditary xerocytosis revisited

Archer, Natasha M., Shmukler, Boris E., Andolfo, Immacolata, Vandorpe, David H., Gnanasambandam, Radhakrishnan, Higgins, John M., Rivera, Alicia, Fleming, Mark D., Sachs, Frederick, Gottlieb, Philip A

Journal:

American Journal of Hematology

Year:

2014

Language:

english

File:

PDF, 571 KB

english, 2014

12

Chromosome 9q and 16q Loss Identified by Genome-Wide Pooled-Analysis Are Associated with Tumor Aggressiveness in Patients with Classic Medulloblastoma

Coco, Simona, Valdora, Francesca, Bonassi, Stefano, Scaruffi, Paola, Stigliani, Sara, Oberthuer, André, Berthold, Frank, Andolfo, Immacolata, Servidei, Tiziana, Riccardi, Riccardo, Basso, Eleonora, Io

Journal:

Omics A Journal of Integrative Biology

Year:

2011

Language:

english

File:

PDF, 207 KB

english, 2011

13

The metallophosphodiesterase Mpped2 impairs tumorigenesis in neuroblastoma

Liguori, Lucia, Andolfo, Immacolata, De Antonellis, Paqualino, Aglio, Veruska, di Dato, Valeria, Marino, Natascia, Ivan Orlotti, Nicola, De Martino, Daniela, Capasso, Mario, Petrosino, Giuseppe, Schra

Journal:

Year:

2012

Language:

english

File:

PDF, 2.34 MB

english, 2012

14

SOCS3 and IRS-1 gene expression differs between genotype 1 and genotype 2 hepatitis C virus-infected HepG2 cells

Persico, Marcello, Russo, Roberta, Persico, Eliana, Svelto, Monica, Spano, Daniela, Andolfo, Immacolata, La Mura, Vincenzo, Capasso, Mario, Tiribelli, Claudio, Torella, Roberto, Iolascon, Achille

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2009

Language:

english

File:

PDF, 308 KB

english, 2009

15

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

Cimmino, Flora, Pezone, Lucia, Avitabile, Marianna, Acierno, Giovanni, Andolfo, Immacolata, Capasso, Mario, Iolascon, Achille

Journal:

Scientific Reports

Year:

2015

Language:

english

File:

PDF, 1.91 MB

english, 2015

16

Diagnosis and management of congenital dyserythropoietic anemias

Gambale, Antonella, Iolascon, Achille, Andolfo, Immacolata, Russo, Roberta

Journal:

Expert Review of Hematology

Year:

2016

Language:

english

File:

PDF, 1.64 MB

english, 2016

17

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

Andolfo, Immacolata, Russo, Roberta, Manna, Francesco, Shmukler, Boris E., Gambale, Antonella, Vitiello, Giuseppina, De Rosa, Gianluca, Brugnara, Carlo, Alper, Seth L., Snyder, L. Michael, Iolascon, A

Journal:

American Journal of Hematology

Year:

2015

Language:

english

File:

PDF, 589 KB

english, 2015

18

Recommendations for splenectomy in hereditary hemolytic anemias

Iolascon, Achille, Andolfo, Immacolata, Barcellini, Wilma, Corcione, Francesco, Garçon, Loïc, De Franceschi, Lucia, Pignata, Claudio, Graziadei, Giovanna, Pospisilova, Dagmar, Rees, David C., de Monta

Journal:

Year:

2017

Language:

english

File:

PDF, 162 KB

english, 2017

19

GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of Congenital Dyserythropoietic Anemia type II

Russo, Roberta, Andolfo, Immacolata, Gambale, Antonella, De Rosa, Gianluca, Manna, Francesco, Arillo, Alessandra, Wandroo, Farooq, Bisconte, Maria Grazia, Iolascon, Achille

Journal:

Year:

2017

Language:

english

File:

PDF, 1.07 MB

english, 2017

20

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

Al-Riyami, Arwa Z., Iolascon, Achille, Al-Zadjali, Shoaib, Andolfo, Immacolata, Al-Mammari, Sahima, Manna, Francesco, Al Rawas, AbdulHakim, King, May-Jean, Russo, Roberta

Journal:

American Journal of Hematology

Year:

2017

Language:

english

File:

PDF, 655 KB

english, 2017

21

PEROXIREDOXIN-2 PLAYS A PIVOTAL ROLE AS MULTIMODAL CYTOPROTECTOR IN THE EARLY PHASE OF PULMONARY HYPERTENSION

Federti, Enrica, Matte’, Alessandro, Ghigo, Alessandra, Andolfo, Immacolata, James, Cimino, Siciliano, Angela, Leboeuf, Christophe, Janin, Anne, Manna, Francesco, Choi, Soo Young, Iolascon, Achille, B

Journal:

Free Radical Biology and Medicine

Year:

2017

Language:

english

File:

PDF, 1.21 MB

english, 2017

22

Hereditary Stomatocytosis: An underdiagnosed condition

Andolfo, Immacolata, Russo, Roberta, Gambale, Antonella, Iolascon, Achille

Journal:

American Journal of Hematology

Year:

2017

Language:

english

File:

PDF, 1.08 MB

english, 2017

23

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

Federti, Enrica, Matte, Alessandro, Ghigo, Alessandra, Andolfo, Immacolata, James, Cimino, Siciliano, Angela, Leboeuf, Christophe, Janin, Anne, Manna, Francesco, Choi, Soo Young, Iolascon, Achille, Be

Journal:

Year:

2017

Language:

english

File:

PDF, 596 KB

english, 2017

24

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

Andolfo, Immacolata, Manna, Francesco, De Rosa, Gianluca, Rosato, Barbara Eleni, Gambale, Antonella, Tomaiuolo, Giovanna, Carciati, Antonio, Marra, Roberta, De Franceschi, Lucia, Iolascon, Achille, Ru

Journal:

Year:

2017

Language:

english

File:

PDF, 721 KB

english, 2017

25

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

Russo, Roberta, Andolfo, Immacolata, Manna, Francesco, Gambale, Antonella, Marra, Roberta, Rosato, Barbara Eleni, Caforio, Paola, Pinto, Valeria, Pignataro, Piero, Radhakrishnan, Kottayam, Unal, Sule,

Journal:

American Journal of Hematology

Year:

2018

Language:

english

File:

PDF, 1.12 MB

english, 2018

26

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

Mugnano, Martina, Memmolo, Pasquale, Miccio, Lisa, Merola, Francesco, Bianco, Vittorio, Bramanti, Alessia, Gambale, Antonella, Russo, Roberta, Andolfo, Immacolata, Iolascon, Achille, Ferraro, Pietro

Journal:

Analytical Chemistry

Year:

2018

Language:

english

File:

PDF, 1022 KB

english, 2018

27

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

Gnanasambandam, Radhakrishnan, Rivera, Alicia, Vandorpe, David H., Shmukler, Boris E., Brugnara, Carlo, Snyder, L. Michael, Andolfo, Immacolata, Iolascon, Achille, Silveira, Paulo A., Hamerschlak, Nel

Journal:

Year:

2018

Language:

english

File:

PDF, 4.34 MB

english, 2018

28

MicroRNA-199b-5p Impairs Cancer Stem Cells through Negative Regulation of HES1 in Medulloblastoma

Garzia, Livia, Andolfo, Immacolata, Cusanelli, Emilio, Marino, Natascia, Petrosino, Giuseppe, De Martino, Daniela, Esposito, Veronica, Galeone, Aldo, Navas, Luigi, Esposito, Silvia, Gargiulo, Sara, Fa

Journal:

Year:

2009

Language:

english

File:

PDF, 890 KB

english, 2009

29

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

Immacolata, Andolfo, Roberta, Russo, Barbara, Rosato Eleni, Francesco, Manna, Antonella, Gambale, Brugnara, Carlo, Achille, Iolascon

Journal:

American Journal of Hematology

Year:

2018

Language:

english

File:

PDF, 1.40 MB

english, 2018

30

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

Andolfo, Immacolata, De Rosa, Gianluca, Errichiello, Edoardo, Manna, Francesco, Rosato, Barbara Eleni, Gambale, Antonella, Vetro, Annalisa, Calcaterra, Valeria, Pelizzo, Gloria, De Franceschi, Lucia,

Journal:

Frontiers in Physiology

Year:

2019

File:

PDF, 1.09 MB

2019

31

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

Andolfo, Immacolata, De Rosa, Gianluca, Errichiello, Edoardo, Manna, Francesco, Rosato, Barbara Eleni, Gambale, Antonella, Vetro, Annalisa, Calcaterra, Valeria, Pelizzo, Gloria, De Franceschi, Lucia,

Journal:

Frontiers in Physiology

Year:

2019

Language:

english

File:

PDF, 1.09 MB

english, 2019

32

Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ Hereditary Xerocytosis (HX) red cells.

Rivera, Alicia, Vandorpe, David H., Shmukler, Boris E., Andolfo, Immacolata, Iolascon, Achille, Archer, Natasha M., Shabani, Estela, Auerbach, Michael, Hamerschlak, Nelson, Morton, James, Wohlgemuth,

Journal:

American journal of physiology. Cell physiology

Year:

2019

Language:

english

File:

PDF, 522 KB

english, 2019

33

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

Russo, Roberta, Marra, Roberta, Andolfo, Immacolata, De Rosa, Gianluca, Rosato, Barbara Eleni, Manna, Francesco, Gambale, Antonella, Raia, Maddalena, Unal, Sule, Barella, Susanna, Iolascon, Achille

Journal:

Frontiers in Physiology

Year:

2019

Language:

english

File:

PDF, 1.35 MB

english, 2019

34

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

Andolfo, Immacolata, Rosato, Barbara Eleni, Marra, Roberta, De Rosa, Gianluca, Manna, Francesco, Gambale, Antonella, Iolascon, Achille, Russo, Roberta

Journal:

American Journal of Hematology

Year:

2019

Language:

english

File:

PDF, 1.86 MB

english, 2019

35

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

Tornador, Cristian, Sánchez-Prados, Edgar, Cadenas, Beatriz, Russo, Roberta, Venturi, Veronica, Andolfo, Immacolata, Hernández-Rodriguez, Ines, Iolascon, Achille, Sánchez, Mayka

Journal:

Frontiers in Physiology

Year:

2019

Language:

english

File:

PDF, 1.27 MB

english, 2019

36

Gain‐of‐function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway

Andolfo, Immacolata, Rosato, Barbara Eleni, Manna, Francesco, De Rosa, Gianluca, Marra, Roberta, Gambale, Antonella, Girelli, Domenico, Russo, Roberta, Iolascon, Achille

Journal:

American Journal of Hematology

Year:

2019

Language:

english

File:

PDF, 2.46 MB

english, 2019

37

A Novel εγδβ-Thalassemia Deletion Associated with Severe Anemia at Birth and a β-Thalassemia Intermedia Phenotype Later in Life in Three Generations of a Greek Family

Makis, Alexandros, Georgiou, Ioannis, Traeger-Synodinos, Jan, Storino, Maria Rosaria, Giuliano, Mariarosaria, Andolfo, Immacolata, Hatzimichael, Eleftheria, Chaliasos, Nikolaos, Giapros, Vasileios, Iz

Journal:

Year:

2019

File:

PDF, 1.13 MB

2019

38

Hereditary spherocytosis and allied disorders

Russo, Roberta, Andolfo, Immacolata

Journal:

Year:

2019

Language:

english

File:

PDF, 259 KB

english, 2019

39

Kinome multigenic panel identified novel druggable EPHB4âV871I somatic variant in highârisk neuroblastoma

Andolfo, Immacolata, Lasorsa, Vito A., Manna, Francesco, Rosato, Barbara E., Formicola, Daniela, Iolascon, Achille, Capasso, Mario

Journal:

Journal of Cellular and Molecular Medicine

Year:

2020

File:

PDF, 1.56 MB

2020

40

Congenital Dyserythropoietic Anemias

Iolascon, Achille, Andolfo, Immacolata, Russo, Roberta

Journal:

Year:

2020

File:

PDF, 3.88 MB

2020

41

A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature

Zama, Daniele, Giulietti, Giulia, Muratore, Edoardo, Andolfo, Immacolata, Russo, Roberta, Iolascon, Achille, Pession, Andrea

Journal:

Italian Journal of Pediatrics

Year:

2020

File:

PDF, 573 KB

2020

42

RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway

De Rosa, Gianluca, Andolfo, Immacolata, Marra, Roberta, Manna, Francesco, Rosato, Barbara Eleni, Iolascon, Achille, Russo, Roberta

Journal:

International Journal of Molecular Sciences

Year:

2020

File:

PDF, 1.66 MB

2020

43

Genetic Analysis of the Coronavirus SARS-CoV-2 Host Protease TMPRSS2 in Different Populations

Russo, Roberta, Andolfo, Immacolata, Lasorsa, Vito Alessandro, Iolascon, Achille, Capasso, Mario

Journal:

Frontiers in Genetics

Year:

2020

File:

PDF, 810 KB

2020

44

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

Russo, Roberta, Marra, Roberta, Andolfo, Immacolata, De Rosa, Gianluca, Rosato, Barbara Eleni, Manna, Francesco, Gambale, Antonella, Raia, Maddalena, Unal, Sule, Barella, Susanna, Iolascon, Achille

Journal:

Frontiers in Physiology

Year:

2020

File:

PDF, 81 KB

2020

45

Uridine treatment normalizes the congenital dyserythropoietic anemia typeII âlike hematological phenotype in a patient with homozygous mutation in the CAD gene

Russo, Roberta, Marra, Roberta, Andolfo, Immacolata, Manna, Francesco, De Rosa, Gianluca, Rosato, Barbara Eleni, Radhakrishnan, Kottayam, Fahey, Michael, Iolascon, Achille

Journal:

American Journal of Hematology

Year:

2020

File:

PDF, 2.29 MB

2020

46

Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias

Russo, Roberta, Marra, Roberta, Rosato, Barbara Eleni, Iolascon, Achille, Andolfo, Immacolata

Journal:

Frontiers in Physiology

Year:

2020

File:

PDF, 862 KB

2020