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Marcella Zollino
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40
Neri, Giovanni
11
Genuardi, Maurizio
11
Lecce, Rosetta
10
Murdolo, Marina
7
Sica, Simona
6
Selicorni, Angelo
6
Pomponi, Maria Grazia
6
Zampino, Giuseppe
6
Laurenti, Luca
5
Madia, Francesca
5
Garavelli, Livia
5
Zini, Gina
5
Leone, Giuseppe
5
Opitz, John
5
Sabatelli, Mario
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All Publications
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2009: Luigetti Marco; Conte Amelia; Madia Francesca; Marangi Giuseppe; Zollino Marcella; Mancuso Irene; Dileone Michele; Del Grande Alessandra; Di Lazzaro Vincenzo; Tonali Pietro Attilio; Sabatelli Mario
Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2009;30(6):517-20.
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2009: Luigetti Marco; Madia Francesca; Conte Amelia; Marangi Giuseppe; Zollino Marcella; Del Grande Alessandra; Dileone Michele; Tonali Pietro Attilio; Sabatelli Mario
SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2009;10(5-6):479-82.
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2009: Sabatelli Mario; Eusebi Fabrizio; Al-Chalabi Ammar; Conte Amelia; Madia Francesca; Luigetti Marco; Mancuso Irene; Limatola Cristina; Trettel Flavia; Sobrero Fabrizia; Di Angelantonio Silvia; Grassi Francesca; Di Castro Amalia; Moriconi Claudia; Fucile Sergio; Lattante Serena; Marangi Giuseppe; Murdolo Marina; Orteschi Daniela; Del Grande Alessandra; Tonali Pietro; Neri Giovanni; Zollino Marcella
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis.
Human molecular genetics 2009;18(20):3997-4006.
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2009: Dickmann Anna; Parrilla Rosa; Salerni Annabella; Savino Gustavo; Vasta Isabella; Zollino Marcella; Petroni Sergio; Zampino Giuseppe
Ocular manifestations in Wolf-Hirschhorn syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2009;13(3):264-7.
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2009: Zollino Marcella; Seminara Laura; Orteschi Daniela; Gobbi Giuseppe; Giovannini Simona; Della Giustina Elvio; Frattini Daniele; Scarano Angela; Neri Giovanni
The ring 14 syndrome: clinical and molecular definition.
American journal of medical genetics. Part A 2009;149A(6):1116-24.
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2008: South Sarah T; Hannes Femke; Fisch Gene S; Vermeesch Joris Robert; Zollino Marcella
Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.
American journal of medical genetics. Part C, Seminars in medical genetics 2008;148C(4):270-4.
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2008: Zollino Marcella; Murdolo Marina; Marangi Giuseppe; Pecile Vanna; Galasso Cinzia; Mazzanti Laura; Neri Giovanni
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.
American journal of medical genetics. Part C, Seminars in medical genetics 2008;148C(4):257-69.
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2008: Mancini Antonio; Zollino Marcella; Leone Erika; Grande Giuseppe; Festa Roberto; Lecce Rosetta; Pontecorvi Alfredo; Neri Giovanni
A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age.
Fertility and sterility 2008;90(5):2011.e17-21.
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2008: Piccione Maria; Maresi Emiliano; Zollino Marcella; Sanfilippo Cinzia; Seminara Laura; Neri Giovanni; Corsello Giovanni
Sex reversal from functional disomy of Xp: prenatal and post-mortem findings.
American journal of medical genetics. Part A 2008;146A(20):2681-7.
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2008: Marangi Giuseppe; Leuzzi Vincenzo; Orteschi Daniela; Grimaldi Maria E; Lecce Rosetta; Neri Giovanni; Zollino Marcella
Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype.
American journal of medical genetics. Part A 2008;146A(18):2313-7.
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2008: Sabatelli M; Madia F; Conte A; Luigetti M; Zollino M; Mancuso I; Lo Monaco M; Lippi G; Tonali P
Natural history of young-adult amyotrophic lateral sclerosis.
Neurology 2008;71(12):876-81.
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2008: Luigetti Marco; Conte Amelia; Madia Francesca; Mereu Maria Lucia; Zollino Marcella; Marangi Giuseppe; Pomponi Maria Grazia; Liberatore Giuseppe; Tonali Pietro Altilio; Sabatelli Mario
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.
Muscle & nerve 2008;38(2):1060-4.
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2008: Laurenti Luca; Tarnani Michela; Chiusolo Patrizia; La Torre Giuseppe; Garzia Mariagrazia; Zollino Marcella; Zini Gina; Balducci Mario; Leone Giuseppe; Sica Simona
Low incidence of secondary neoplasia after autotransplantation for lymphoproliferative disease: the role of pre-transplant therapy.
Clinical transplantation 2008;22(2):191-9.
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2007: Zollino Marcella; Lecce Rosetta; Murdolo Marina; Orteschi Daniela; Marangi Giuseppe; Selicorni Angelo; Midro Alina; Sorge Giovanni; Zampino Giuseppe; Memo Luigi; Battaglia Domenica; Petersen Michael; Pandelia Effie; Gyftodimou Yolanda; Faravelli Francesca; Tenconi Romano; Garavelli Livia; Mazzanti Laura; Fischetto Rita; Cavalli Pietro; Savasta Salvatore; Rodriguez Laura; Neri Giovanni
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
Human genetics 2007;122(5):423-30.
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2007: Garavelli L; Guareschi E; Errico S; Simoni A; Bergonzini P; Zollino M; Gurrieri F; Mancini G M; Schot R; Van Der Spek P J; Frigieri G; Zonari P; Albertini E; Giustina E Della; Amarri S; Banchini G; Dobyns W B; Neri G
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.
Neuropediatrics 2007;38(4):200-3.
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2007: Faravelli Francesca; Murdolo Marina; Marangi Giuseppe; Bricarelli Franca Dagna; Di Rocco Maja; Zollino Marcella
Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes.
American journal of medical genetics. Part A 2007;143A(11):1169-73.
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2007: Rodríguez L; Zollino M; Mansilla E; Martínez-Fernández M L; Pérez P; Murdolo M; Martínez-Frías M L
The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history.
American journal of medical genetics. Part A 2007;143A(9):995-8.
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2007: Righini A; Ciosci R; Selicorni A; Bianchini E; Parazzini C; Zollino M; Lodi M; Triulzi F
Brain magnetic resonance imaging in Wolf-Hirschhorn syndrome.
Neuropediatrics 2007;38(1):25-8.
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2006: Lecce Rosetta; Murdolo Marina; Gelli Gianfranco; Steindl Katharina; Coppola Livia; Romano Anna; Cupelli Elisa; Neri Giovanni; Zollino Marcella
The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12.
Human genetics 2006;118(6):760-6.
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2005: Rodríguez Laura; Zollino Marcella; Climent Salvador; Mansilla Elena; López-Grondona Fermina; Martínez-Fernández María Luisa; Murdolo Marina; Martínez-Frías María Luisa
The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.
American journal of medical genetics. Part A 2005;136(2):175-8.
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2005: Tabolacci Elisabetta; Zollino Marcella; Lecce Rosetta; Sangiorgi Eugenio; Gurrieri Fiorella; Leuzzi Vincenzo; Opitz John M; Neri Giovanni
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome.
Clinical dysmorphology 2005;14(3):127-32.
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2005: De Rosa Gabriella; Pardeo Manuela; Bria Serena; Caresta Elena; Vasta Isabella; Zampino Giuseppe; Zollino Marcella; Zuppa Antonio Alberto; Piastra Marco
Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy.
European journal of pediatrics 2005;164(4):255-6.
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2005: Lucci-Cordisco E; Zollino M; Baglioni S; Mancuso I; Lecce R; Gurrieri F; Crucitti A; Papi L; Neri G; Genuardi M
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer.
Clinical genetics 2005;67(2):178-82.
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2005: Garavelli L; Cerruti-Mainardi P; Virdis R; Pedori S; Pastore G; Godi M; Provera S; Rauch A; Zweier C; Zollino M; Banchini G; Longo N; Mowat D; Neri G; Bernasconi S
Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review.
Hormone research 2005;63(4):187-92.
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2004: Leuzzi V; Di Sabato M L; Zollino M; Montanaro M L; Seri S
Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation.
Neurology 2004;63(10):1968-70.
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2004: Chiurazzi P; Bajer J; Tabolacci E; Pomponi M G; Lecce R; Zollino M; Neri G
Assisted reproductive technology and congenital overgrowth: some speculations on a case of Pallister-Killian syndrome.
American journal of medical genetics. Part A 2004;130A(3):315-6.
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2004: Zollino Marcella; Lecce Rosetta; Selicorni Angelo; Murdolo Marina; Mancuso Irene; Marangi Giuseppe; Zampino Giuseppe; Garavelli Livia; Ferrarini Alessandra; Rocchi Mariano; Opitz John M; Neri Giovanni
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.
European journal of human genetics : EJHG 2004;12(10):797-804.
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2003: Battaglia Domenica; Zampino Giuseppe; Zollino Marcella; Mariotti Paolo; Acquafondata Celeste; Lettori Donatella; Pane Marika; Vasta Isabella; Neri Giovanni; Dravet Charlotte; Guzzetta Francesco
Electroclinical patterns and evolution of epilepsy in the 4p- syndrome.
Epilepsia 2003;44(9):1183-90.
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2003: Kavamura M I; Zollino M; Lecce R; Murdolo M; Brunoni D; Alchorne M M A; Opitz J M; Neri G
Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients.
American journal of medical genetics. Part A 2003;119A(2):177-9.
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2003: Zollino Marcella; Lecce Rosetta; Fischetto Rita; Murdolo Marina; Faravelli Francesca; Selicorni Angelo; Buttè Cinzia; Memo Luigi; Capovilla Giuseppe; Neri Giovanni
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.
American journal of human genetics 2003;72(3):590-7.
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2003: Zollino Marcella; Colosimo Cesare; Zuffardi Orsetta; Rossi Elena; Tosolini Alessandra; Walsh Christopher A; Neri Giovanni
Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait.
American journal of medical genetics. Part A 2003;117A(1):65-71.
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2003: Neri Giovanni; Kavamura Maria Ines; Zollino Marcella; Opitz John M
CFC syndrome.
American journal of medical genetics. Part A 2003;116A(4):410.
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2003: Garavelli L; Donadio A; Zanacca C; Banchini G; Della Giustina E; Bertani G; Albertini G; Del Rossi C; Zweier C; Rauch A; Zollino M; Neri G
Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.
American journal of medical genetics. Part A 2003;116A(4):385-8.
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2003: Kavamura M I; Pomponi M G; Zollino M; Lecce R; Murdolo M; Brunoni D; Alchorne M M A; Opitz J M; Neri G
PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.
European journal of human genetics : EJHG 2003;11(1):64-8.
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2002: Giglio Sabrina; Calvari Vladimiro; Gregato Giuliana; Gimelli Giorgio; Camanini Silvia; Giorda Roberto; Ragusa Angela; Guerneri Silvana; Selicorni Angelo; Stumm Marcus; Tonnies Holger; Ventura Mario; Zollino Marcella; Neri Giovanni; Barber John; Wieczorek Dagmar; Rocchi Mariano; Zuffardi Orsetta
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.
American journal of human genetics 2002;71(2):276-85.
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2002: Laurenti Luca; Chiusolo Patrizia; Garzia Maria Grazia; Zini Gina; Sorà Federica; Piccirillo Nicola; Piccioni Paola; Zollino Marcella; Leone Giuseppe; Sica Simona
Periodic morphologic, cytogenetic and clonality evaluation after autologous peripheral blood progenitor cell transplantation in patients with lymphoproliferative malignancies.
Haematologica 2002;87(1):59-66.
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2001: Sica S; Chiusolo P; Zollino M; Sora F; Piccirillo N; Laurenti L; Reddiconto G; Leone G
The association of severe aplastic anaemia with the Philadelphia chromosome and the bcr/abl transcript.
British journal of haematology 2001;114(4):961-2.
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2001: Rossi E; Piccini F; Zollino M; Neri G; Caselli D; Tenconi R; Castellan C; Carrozzo R; Danesino C; Zuffardi O; Ragusa A; Castiglia L; Galesi O; Greco D; Romano C; Pierluigi M; Perfumo C; Di Rocco M; Faravelli F; Dagna Bricarelli F; Bonaglia M; Bedeschi M; Borgatti R
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations.
Journal of medical genetics 2001;38(6):417-20.
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2000: Zollino M; Di Stefano C; Zampino G; Mastroiacovo P; Wright T J; Sorge G; Selicorni A; Tenconi R; Zappalà A; Battaglia A; Di Rocco M; Palka G; Pallotta R; Altherr M R; Neri G
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.
American journal of medical genetics 2000;94(3):254-61.
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2000: Laurenti L; d'Onofrio G; Sica S; Chiusolo P; Zini G; Piccirillo N; Zollino M; Garzia M; Sora F; Leone G
Secondary myelodysplastic syndromes following peripheral blood stem cell transplantation: morphological, cytogenetic and clonality evaluation and the limitation of FAB criteria.
Bone marrow transplantation 2000;26(2):241-2.
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1999: Zollino M; Tiziano F; Di Stefano C; Neri G
Partial duplication of the long arm of chromosome 15: confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome.
American journal of medical genetics 1999;87(5):391-4.
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1999: Zollino M; Bajer J; Neri G
Chromosome instability limited to the aneuploid clone in the Pallister-Killian syndrome: a pitfall in prenatal diagnosis.
Prenatal diagnosis 1999;19(2):184-5.
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1999: Zollino M; Wright T J; Di Stefano C; Tosolini A; Battaglia A; Altherr M R; Neri G
"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype.
American journal of medical genetics 1999;82(5):371-5.
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1998: Laurenti L; Salutari P; Sica S; Piccirillo N; Zini G; Zollino M; Leone G
Acute myeloid leukemia after iodine-131 treatment for thyroid disorders.
Annals of hematology 1998;76(6):271-2.
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1996: Zollino M; Bova R; Neri G
From Pitt-Rogers-Danks syndrome to Wolf-Hirschhorn syndrome and back?
American journal of medical genetics 1996;66(1):113-5.
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1996: Neri G; Zollino M
More on the Noonan-CFC controversy.
American journal of medical genetics 1996;65(2):100.
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1995: Zollino M; Genuardi M; Bajer J; Tornesello A; Mastrangelo S; Zampino G; Mastrangelo R; Neri G
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature.
Leukemia research 1995;19(10):733-6.
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1995: Zollino M; Zampino G; Torrioli G; Pomponi M G; Neri G
Further contribution to the description of phenotypes associated with partial 4q duplication.
American journal of medical genetics 1995;57(1):69-73.
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1995: Cox-Froncillo M C; Zollino M; Del Poeta G; Bajer J; Stasi R; Venditti A; Tribalto M; Neri G; Papa G
Trisomy 4 as the sole karyotypic anomaly in acute biphenotypic leukemia with B lineage markers and in acute minimally differentiated myeloid leukemia (M0).
Cancer genetics and cytogenetics 1995;80(1):66-7.
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1995: Mastrangelo R; Tornesello A; Mastrangelo S; Zollino M; Neri G
Constitutional trisomy 8 mosaicism evolving to primary myelodysplastic syndrome: a new subset of biologically related patients?
American journal of hematology 1995;48(1):67-8.
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1995: Genuardi M; Bardoni B; Floridia G; Chiurazzi P; Scarano G; Zollino M; Garcea N; Martini-Neri M E; Neri G
Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal.
Clinical genetics 1995;47(1):38-41.
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1994: Pagano L; Ortu-La Barbera E O; Voso M T; Zollino M; Laurenti L; Marra R; Leone G
Salvage chemotherapy with pentostatin in prolymphocytic leukemia.
Haematologica 1994;79(6):542-5.
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1994: Zollino M; Battaglia A; D'Avanzo M G; Della Bruna M M; Marini R; Scarano G; Cappa M; Neri G
Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria.
American journal of medical genetics 1994;52(3):302-7.
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1993: Genuardi M; Pomponi M G; Sammito V; Bellussi A; Zollino M; Neri G
Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1.
American journal of medical genetics 1993;47(6):823-31.
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1993: Kozák L; Chiurazzi P; Genuardi M; Pomponi M G; Zollino M; Neri G
Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3.
Journal of medical genetics 1993;30(10):866-9.
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1993: Zampino G; Mastroiacovo P; Ricci R; Zollino M; Segni G; Martini-Neri M E; Neri G
Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology.
American journal of medical genetics 1993;47(2):176-83.
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1993: Zollino M; Leone G; Sica S; Bajer J; Neri G
Trisomy 4 in acute myeloblastic and acute lymphoblastic leukemia.
Cancer genetics and cytogenetics 1993;65(2):115-9.
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1992: Leone G; Sica S; De Stefano V; Teofili L; Larocca L M; D'Onofrio G; Zollino M
Acute onset of juvenile myelodysplastic syndrome mimicking thrombotic thrombocytopenic purpura and rapidly evolving in overt myeloid leukemia.
American journal of hematology 1992;41(1):64-5.
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1992: Leone G; La Rocca L M; Teofili L; De Candia E; Landolfi R; Sica S; Zini G; Zollino M; Tabilio A
Lymph node blast crisis in chronic myeloid leukemia mimicking T-immunoblastic lymphoma.
Haematologica 1992;77(4):311-4.
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1992: Zollino M; Mastroiacovo P; Zampino G; Mariotti P; Neri G
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria.
American journal of medical genetics 1992;43(1-2):452-7.
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1991: Pagano L; Larocca L M; Zollino M; Sica S; Storti S; Rotoli M; Marra R; Leone G
Apparent isolated skin relapse in acute monocytic leukemia. A case report.
Tumori 1991;77(2):172-4.
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1991: Zollino M; Genuardi M; Tanci P; Mango G; Rumi C; Mancini R; Neri G
Chronic myelogenous leukemia in the course of chronic lymphocytic leukemia: evidence for an independent clonal origin.
Leukemia research 1991;15(4):269-73.
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1990: Genuardi M; Zollino M; Bellussi A; Fuhrmann W; Neri G
Brachy/ectrodactyly and absence or hypoplasia of the fibula: an autosomal dominant condition with low penetrance and variable expressivity.
Clinical genetics 1990;38(5):321-6.
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1990: Zollino M; Genuardi M; Neri G
Differential expression of FRA16B in peripheral lymphocytes and bone marrow cells.
Cancer genetics and cytogenetics 1990;49(2):229-33.
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1989: Larocca L M; Zollino M; Carbone A; Eboli M L; Mango G; Leone G
Chronic myeloid leukemia with monoclonal gammopathy terminating in myeloid crisis and immunoblastic lymphoma.
Tumori 1989;75(2):106-9.
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1988: Zollino M; Eboli M L; Targaglione R; Marra R; Leone G
Double gammopathy during L-3 lymphoblastic leukemia.
Haematologica 1988;73(5):411-3.
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1988: Genuardi M; Zollino M; Serra A; Leone G; Mancini R; Mango G; Neri G
Long-term cytogenetic effects of antineoplastic treatment in relation to secondary leukemia.
Cancer genetics and cytogenetics 1988;33(2):201-11.
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1988: Zollino M; Genuardi M; De Santis R; Leone G; Marra R; Mancini R; Mango G; Neri G
Partial duplication of chromosome 1q preceding the development of an L3 lymphoblastic leukemia with t(8;14), secondary to treatment for Hodgkin's disease.
European journal of haematology 1988;40(3):193-7.
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1988: Leone G; Marra R; Pagano L; Storti S; Zollino M; Ricerca B M; Mango G
Ph1-chromosome-positive chronic myelogenous leukemia following a 1-year 'off-therapy' acute lymphoblastic leukemia.
Oncology 1988;45(5):389-91.
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1987: Genuardi M; Zollino M; Mancini R; Neri G
Chromosome alterations in individuals at risk for treatment-induced leukemia.
Haematologica 1987;72(6 Suppl):60-1.
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1987: Zollino M; Neri G
Protective effect of S-adenosylmethionine against the induction of chromosome fragile sites.
Acta haematologica 1987;78 Suppl 1():100-3.
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1986: Larussa F M; Larocca L M; Venier A; Zollino M; Rusciani L; Serri F
Distribution of circulating mononuclear cells in short-term PUVA-treated psoriatic patients and healthy subjects.
Acta dermato-venereologica 1986;66(5):398-403.
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