Publications of the Group (1990...) 


In the news or commentary:

Centromere on the move.
Genome Res. 2001 Apr;11(4):513-6. Review

Repetitive conundrums of centromere structure and function.
Hum Mol Genet. 1999 Feb;8(2):151-5. Review

In press


Albano F, Anelli L, Zagaria A, Archidiacono N, Liso V, Specchia G, Rocchi M: "Home-brew" FISH assay shows higher efficiency than BCR-ABL dual color, dual fusion probe in detecting microdeletions and complex rearrangements associated with t(9;22) in chronic myeloid leukemia. Cancer Genet Cytogenet 174:121-126 (2007).

Alkan C, Ventura M, Archidiacono N, Rocchi M, Sahinalp SC, Eichler EE: Organization and evolution of primate centromeric DNA from whole-genome shotgun sequence data. PLoS Comput Biol 3:1807-1818 (2007).

Bodega B, Cardone MF, Muller S, Neusser M, Orzan F, Rossi E, Battaglioni E, Marozzi A, Riva P, Rocchi M, Meneveri R, Ginelli E: Evolutionary genomic remodelling of the human 4q subtelomere (4q35.2). BMC Evol Biol 7:39 (2007).

Cardone MF, Lomiento M, Teti MG, Misceo D, Roberto R, Capozzi O, D'Addabbo P, Ventura M, Rocchi M, Archidiacono N: Evolutionary history of chromosome 11 featuring four distinct centromere repositioning events in Catarrhini. Genomics 90: 35-43 (2007)

Gibbs RA, .... Rocchi M, ...: Evolutionary and biomedical insights from the rhesus macaque genome. Science 316:222-234 (2007).

Giorda R, Ciccone R, Gimelli G, Pramparo T, Beri S, Bonaglia MC, Giglio S, Genuardi M, Argente J, Rocchi M, Zuffardi O: Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. Hum Mut 28:459-468 (2007).

Jiang Z, Tang H, Ventura M, Cardone MF, Marques-Bonet T, She X, Pevzner PA, Eichler EE: Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution. Nat Genet (2007).

Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C: Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet 81:1057-69 (2007).

Minervini CF, Marsano RM, Casieri P, Fanti L, Caizzi R, Pimpinelli S, Rocchi M, Viggiano L: Heterochromatin protein 1 interacts with 5'UTR of transposable element ZAM in a sequence-specific fashion. Gene 393:1-10 (2007).  

Roberto R, Capozzi O, Wilson RK, Mardis ER, Lomiento M, Tuzun E, Cheng Z, Mootnick AR, Archidiacono N, Rocchi M, Eichler EE: Molecular refinement of gibbon genome rearrangement. Genome Res 17:249-257 (2007)

Rossi F, Moschetti R, Caizzi R, Corradini N, Dimitri P: Cytogenetic and molecular characterization of heterochromatin gene models in Drosophila melanogaster. Genetics 175:195-607(2006).

Storlazzi CT, Albano F, Dencic-Fekete M, Djordjevic V, Rocchi M: Late-appearing pseudocentric fission event during chronic myeloid leukemia progression. Cancer Genet Cytogenet 174:61-7 (2007).

Storlazzi CT, Albano F, Lo Cunsolo C, Doglioni C, Guastadisegni MC, Impera L, Lonoce A, Funes S, Macri E, Iuzzolino P, Panagopoulos I, Specchia G, Rocchi M. Upregulation of the SOX5 by promoter swapping with the P2RY8 gene in primary splenic follicular lymphoma. Leukemia. 2007 Jun 7; [Epub ahead of print]

Ventura A, Antonacci F, Cardone MF, Stanyon R, D'Addabbo P, Cellamare A, Sprague LJ, Eichler EE, Archidiacono N, Rocchi M: Evolutionary formation of new centromeres in macaque. Science 316:243-246 (2007).

2006 ( top )

Albano F, Specchia G, Anelli L, Zagaria A, Archidiacono N, Liso V, Rocchi M: Molecular cytogenetic findings supporting the evidence of a biclonal origin in acute myeloid leukemia. Ann Hematol 85:129-31 (2006).

Blasi P, Palmerio F, Aiello A, Rocchi M, Malaspina P, Novelletto A: SSADH Variation in Primates: Intra- and Interspecific Data on a Gene with a Potential Role in Human Cognitive Functions. J Mol Evol 63:54-68 (2006).

Bodega B, Cardone MF, Rocchi M, Meneveri R, Marozzi A, Ginelli E: The boundary of macaque rDNA is constituted by low copy sequences conserved during evolution. Genomics 88:564-571 (2006).

Carbone L, Nergadzeb SG, Magnani E, Misceo D, Cardone MF, Roberto R, Bertoni L, Attolini C, Piras MF, de Jong P, Raudseppd T, Chowdharyd BP, Guérin G, Archidiacono N, Rocchi M, Giulotto E: Evolutionary movement of centromeres in horse, donkey, and zebra. Genomics 87:777-782 (2006).

Cardone MF, Alonso A, Pazienza P, Ventura M, Montemurro G, Carbone L, de Jong PJ, Stanyon R, D'Addabbo P, Archidiacono N, She X, Eichler EE, Warburton PE, and Rocchi M: Independent centromere formation in a capricious gene-free domain of chromosome 13q21 in Old World monkeys and pigs. Genome Biol 7:R91 (2006)

Ciccone R, Mattina T, Giorda R, Bonaglia MC, Rocchi M, Pramparo T, Zuffardi O. Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. J Med Genet. 2006 May;43(5):e19.

Johnson ME, Cheng Z, Morrison VA, Scherer S, Ventura M, Gibbs RA, Green ED, Eichler EE: Recurrent duplication-driven transposition of DNA during hominoid evolution. Proc Natl Acad Sci U S A 103:17626-17631 (2006)

Rocchi M, Archidiacono N, Stanyon R: Ancestral genomes reconstruction: an integrated, multi-disciplinary approach is needed. Genome Res 16:1566-1574 (2006).

Rocchi M. and Archidiacono N.: Genome Plasticity in Evolution. In “Genomic Disorders: The Genomic Basis of Disease”, pp. 153-165 P. Stankiewicz and J.R. Lupski Editors, Humana Press (2006) ISBN 1-58829-559-1

She X, Liu G, Ventura M, Zhao S, Misceo D, Roberto R, Cardone MF, Rocchi M, Comparative Sequencing Program, Green ED, Archidiacono N, Eichler EE: An initial comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications. Genome Res: 576-583 (2006)

Storlazzi CT, Albano F, Locunsolo C, Lonoce A, Funes S, Guastadisegni MC, Cimarosto L, Impera L, D'Addabbo P, Panagopoulos I, Specchia G, Rocchi M. t(3;12)(q26;q14) in polycythemia vera is associated with upregulation of the HMGA2 gene. Leukemia. 2006 Dec;20(12):2190-2. Epub 2006 Oct 5.

Storlazzi CT, Fioretos T, Surace C, Lonoce A, Mastrorilli A, Strömbeck B, D’Addabbo P, Iacovelli F, Minervini C, Aventin A, Dastugue N, Fonatsch C, Hagemeijer A, Jotterand M, Mühlematter D, Lafage-Pochitaloff M, Nguyen-Khac F, Schoch C, Slovak ML, Smith A, Solè F, Van Roy N, Johansson B, Rocchi M: MYC-containing double minutes in hematologic malignancies: evidence in favor of the episome model and exclusion of MYC as the target gene. Hum Mol Genet 15:933-942 (2006)

Trubia M, Albano F, Cavazzini F, Cambrin GR, Quarta G, Fabbiano F, Ciambelli F, Magro D, M. HJ, Mancini M, Diverio D, Pelicci PG, L. CF, Mecucci C, Specchia G, Rocchi M, Liso V, Cuneo A: Characterization of a recurrent translocation t(2;3)(p15–22;q26) occurring in acute myeloid leukaemia. Leukemia 20:48-54 (2006)

Van Roy N, Vandesompele J,  Menten B, Nilsson,  De Smet E,  Rocchi M, De Paepe A,  Påhlman S, Speleman F: Translocation-excision-deletion-amplification mechanism leading to non-syntenic co-amplification of MYC and ATBF1. Genes Chromosomes Cancer 45:107-117 (2006).

Zagaria A, Anelli L, Albano F, Vicari L, Schiavone EM, Annunziata M, Pane F, Liso V, Rocchi M, Specchia G. Molecular cytogenetic characterization of deletions on der(9) in chronic myelocytic leukemia. Cancer Genet Cytogenet. 2006 Jun;167(2):97-102.


Cheng Z, Ventura M, She X, Khaitovich P, Graves T, Osoegawa K, Church D, DeJong P, Wilson RK, Paabo S, Rocchi M and Eichler EE: A Genome-wide comparison of recent human and chimpanzee segmental duplications. Nature 437:88-93 (2005)

Chimpanzee Consortium: Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437:69-87 (2005)

Horvath JE, Gulden CL, Vallente RU, Eichler MY, Ventura M, McPherson, JD, Graves T, Wilson R, Schwartz S, Rocchi M, and Eichler EE: Punctuated duplication seeding events during the evolution of human chromosome 2p11. Genome Res 15:914-927 (2005)

Marzella R, Carrozzo C, Chiarappa P, Miolla V, Rocchi M: Panels of somatic cell hybrids specific for chimpanzee, gorilla, orangutan, and baboon. Cytogenet Genome Res 108:223-228 (2005).

Misceo D, Cardone MF, Carbone L, D'Addabbo P, de Jong PJ, Rocchi M, Archidiacono N: Evolutionary history of chromosome 20. Mol Biol Evol 22:360-366 (2005).

Specchia G, Albano F, Anelli L, Zagaria A, Liso A, Pannunzio A, Archidiacono N, Liso V, Rocchi M: Molecular cytogenetic study of instability at 1q21 approximately q32 in adult acute lymphoblastic leukemia. Cancer Genet Cytogenet 156:54-8 (2005).


Anelli L., Albano F., Zagaria A., Liso A., Roberti M. G., Rocchi M., and Specchia G. (2004). A chronic myelocytic leukemia case bearing deletions on the three chromosomes involved in a variant t(9;22;11). Cancer Genet Cytogenet 148: 137-40.

Bailey JA, Church DM, Ventura M, Rocchi M, Eichler EE: An analysis of segmental duplications and genome assembly in the mouse. Gen. Res. 14:789-801 (2004).

Cardone MF, Ballarati L, Ventura M, Rocchi M, Marozzi A, Ginelli E, Meneveri R: Evolution of Beta satellite DNA sequences: evidence for duplication-mediated repeat amplification and spreading. Mol Biol Evol 21:1792-9 (2004). I.F. 6.050

Hamel P., Saint-Georges Y., de Pinto B., Lachacinski N., Altamura N. and Dujardin G. (2003). Redundancy in the function of mitochondrial phosphatetransport in Saccharomyces cerevisiae and Arabidopsis thaliana". Mol. Microbiol.51:307-17 (2004 ).

Nergadze S, Rocchi M, Azzalin CM, Mondello C, Giulotto E: Insertion of telomeric repeats at intrachromosomal break sites during primate evolution. Genome Res 14:1704-1710 (2004).

Panagopoulos I, Storlazzi CT, Fletcher CD, Fletcher JA, Nascimento A, Domanski HA, Wejde J, Brosjo O, Rydholm A, Isaksson M, Mandahl N, Mertens F: The chimeric FUS/CREB3l2 gene is specific for low-grade fibromyxoid sarcoma. Genes Chromosomes Cancer 40:218-28 (2004).

She X, Horvath JE, Jiang Z, Ge L, Furey T, Christ L, Clark R, Graves T, Gulden CL, Alkan C, Bailey JA, Sahinalp C, Rocchi M, Haussler D, Wilson R, Miller W, Schwartz S, Eichler EE: The structure and evolution of centromeric transition regions within the human genome. Nature 430:857-864 (2004).

Specchia G, Albano F, Anelli L, Storlazzi CT, Zagaria A, Liso A, Pannunzio A, Pastore D, Mestice A, Greco G, Liso V, Rocchi M: Derivative chromosome 9 deletions in chronic myeloid leukemia are associated with loss of tumor suppressor genes. Leuk Lymphoma 45:689-94 (2004).

Storlazzi CT, Anelli L, Albano F, Zagaria A, Ventura M, Rocchi M, Panagopoulos I, Pannunzio A, Ottaviani E, Liso V, Specchia G: A novel chromosomal translocation t(3;7)(q26;q21) in myeloid leukemia resulting in overexpression of EVI1. Ann Hematol 83: 78-83 (2004).

Storlazzi CT, Fioretos T, Paulsson K, Strombeck B, Lassen C, Ahlgren T, Juliusson G, Mitelman F, Rocchi M, Johansson B: Identification of a commonly amplified 4.3 Mb region with overexpression of C8FW, but not MYC in MYC-containing double minutes in myeloid malignancies. Hum Mol Genet 13:1479-85 (2004).

Ventura A, Weigl S, Carbone L, Cardone MF, Misceo D, Teti M, D'Addabbo P, Wandall A, Björck E, de Jong P, She X, Eichler EE, Archidiacono N, Rocchi M: Recurrent sites for new centromere seeding. Genome Res 14:1696-1703 (2004).

Ventura M, Boniotto M, Pazienza M, Palumbo V, Cardone MF, Rocchi M, Tossi A, Amoroso A, Crovella S: Localization of b-defensin genes in non human primates. Eur J Histochem 48:185-90 (2004).

Zagaria A, Anelli L, Albano F, Storlazzi CT, Liso A, Roberti MG, Buquicchio C, Liso V, Rocchi M, Specchia G: A fluorescence in situ hybridization study of complex t(9;22) in two chronic myelocytic leukemia cases with a masked Philadelphia chromosome. Cancer Genet Cytogenet 150:81-5 (2004).


C.T. Storlazzi, F. Mertens, A.Nascimento, M. Isaksson, J. Wejde, O. Brosjö, N. Mandahl, I. Panagopoulos: Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma. Hum. Mol. Genet. 12: 2349-2358 (2003)

M.Ventura, J.M.Mudge, V.Palumbo, S.Burn, E.Blennow, M.Pierluigi, O.Zuffardi, N.Archidiacono, M.S.Jackson, M.Rocchi: Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25. Genome Res. 13:2059–2068 (2003)

D.P.Locke, N.Archidiacono, D.Misceo, M.Rocchi, and E.E.Eichler: Refinement of a Chimpanzee Pericentric Inversion Breakpoint to a Site of Segmental Duplication. Genome Biol. 4(8):R50 (2003)

Horvath JE, Gulden CL, Bailey JA, Yohn C, McPherson JD, Prescott A, Roe BA, De Jong PJ, Ventura M, Misceo D, Archidiacono N, Zhao S, Schwartz S, Rocchi M, Eichler EE. Using a Pericentromeric Interspersed Repeat to Recapitulate the Phylogeny and Expansion of Human Centromeric Segmental Duplications. Mol. Biol. & Evol. 20:1463-1479 (2003)

V. Eder, M.Ventura, M.Ianigro, M.Teti, M.Rocchi, N.Archidiacono: Chromosome 6 phylogeny in primates and centromere repositioning. Mol. Biol. & Evol. 20:1506-1512 (2003)

D.Misceo, M.Ventura, V.Eder, M.Rocchi, and N.Archidiacono: Human chromosome 16 conservation in primates. Chromosome Res. 11:323-326 (2003)

M.-E.Brun, M.Ruault, M.Ventura, G.Roizes, A.De Sario: Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms. Gene 312:41-50

Storlazzi CT, Mertens F, Domanski H, Fletcher CD, Wiegant J, Mandahl N. Ring chromosomes and low-grade gene amplification in an atypical lipomatous tumor with minimal nuclear atypia. Int J Oncol. 23:67-71 (2003)

S.Fabris, C.T.Storlazzi, L.Baldini, L.Nobili, L.Lombardi, A.T.Maiolo, M.Rocchi, A.Neri. Heterogeneous pattern of chromosomal breakpoints involving the MYC locus in multiple myeloma. Genes Chrom. Cancer 37:261-269 (2003)

M.Ruault, M.Ventura, N.Galtier M.-E. Brun, N.Archidiacono, G.Roizès, A.De Sario: BAGE genes generated by juxtacentromeric reshuffling in the Hominidae lineage are under selective pressure. Genomics 81:391-399 (2003)

Specchia G, Albano F, Anelli L, Storlazzi CT, Zagaria A, Mancini M, Cuneo A, Pane F, Foa R, Manolelli F, Liso V, Rocchi M. Deletions on der(9) chromosome in adult Ph-positive acute lymphoblastic leukemia occur with a frequency similar to that observed in chronic myeloid leukemia. Leukemia. 2003 Mar;17(3):528-31.

Storlazzi CT, Mertens F, Mandahl N, Gisselsson D, Isaksson M, Gustafson P, Domanski HA, Panagopoulos I. A novel fusion gene, SS18L1/SSX1, in synovial sarcoma. Genes Chromosomes Cancer. 2003 Jun;37(2):195-200.

F.Albano, G.Specchia, L.Anelli, A.Zagaria, C.T.Storlazzi, C.Buquicchio, M.G.Roberti, V.Liso and M.Rocchi: Genomic deletions on the third chromosome involved in variant t(9;22) chronic myeloid leukemia cases. Genes Chrom Cancer 36:353–360 (2003)

Devin P. Locke, Richard Segraves, Lucia Carbone, Nicoletta Archidiacono, Donna G. Albertson, Daniel Pinkel, and Evan E. Eichler: Large-Scale Variation Among Human and Great Ape Genomes Determined by Array Comparative Genomic Hybridization. Genome Res. 2003 13: 341-346 (2003)

F.J.Charchar, M.Svartman., N.El-Mogharbel., M.Ventura, P.Kirby, M.R.Matarazzo, A.Ciccodicola, M.Rocchi , M.D’Esposito, J.A.M.Graves: Complex events in the evolution of the human pseudoautosomal region 2 (PAR2). Genome Research 13: 281-286 (2003)

FPG Silva, B Morolli, CT Storlazzi, L Anelli, H Wessels, V Bezrookove, HC Kluin-Nelemans, and M Giphart-Gassler: Identication of RUNX1/AML1 as a classical tumor suppressor gene. Oncogene 22:538-47 (2003)


M.F.Cardone, M.Ventura, S.Tempesta, M.Rocchi, and N.Archidiacono: Analysis of chromosome conservation in Lemur catta studied by WCPs and BAC/PAC probes. Chromosoma 111:348-56 (2002)

L.Carbone, M.Ventura, S.Tempesta, M.Rocchi, N.Archidiacono: Evolutionary history of phylogenetic chromosome 10 in primates. Chromosoma 111: 236-255 (2002)

Boniotto M, Ventura M, Cardone MF, Boaretto F, Archidiacono N, Rocchi M, Crovella S: Localization of a new highly repeated DNA sequence of Lemur cafta (Lemuridae, Strepsirhini). Genome 45:973-6 (2002)

G.Specchia F.Albano, L.Anelli, CT.Storlazzi, A.Zagaria, M.Mancini, A.Cuneo, F.Pane, R.Foa’, V.Liso, M.Rocchi: Deletions on der(9) chromosome in adult ph-positive acute lymphoblastic leukemia occur with a frequency similar to that observed in chronic myeloid leukemia. Br J Haematol 119:488-491 (2002)

C.T.Storlazzi, G.Specchia, L.Anelli, F.Albano, D.Pastore, M.Rocchi, and V.Liso: Breakpoint Characterization of der(9) deletions in CML patients. Genes Chrom Cancer 35:271-276 (2002)

Storlazzi CT, Anelli L, Surace C, Lonoce A, Zagaria A, Nanni M, Curzi P, Rocchi M.: Molecular cytogenetic characterization of a complex rearrangement involving chromosomes 9 and 22 in a case of Ph-negative chronic myeloid leukemia. Cancer Genet Cytogenet.136:141-145 (2002)

G.Saglio, C.T. Storlazzi, E.Giugliano, C.Surace, L.Anelli, G.Rege-Cambrin, A.Zagaria, A.Jimenez Velasco, A.Heiniger, P.Scaravaglio, A.Torres Gomez, J.Roman Gomez, N.Archidiacono, S.Banfi, M.Rocchi: A 76kb interchromosomal duplicon maps close to BCR gene on chromosome 22 and to ABL gene on chromosome 9: possible involvement in the genesis of the Philadelphia-chromosome translocation. P.N.A.S. 99:9882-9887 (2002)

G.Specchia, F.Albano, L.Anelli, C.T.Storlazzi, G.Cimino, A.Liso, A.Zagaria, M.Rocchi: Molecular cytogenetics characterization of a novel translocation involving chromosomes 17 and 19 in a Ph+ adult acute lymphoblastic leukaemia. British J. Haemat. 87:775-7 (2002)

S.Giglio, V.Calvari, G.Gregato, G.Gimelli, S.Camanini, R.Giorda, A.Ragusa, S.Guerneri, A.Selicorni, M.Stumm, H.Tonnies, M.Ventura, M.Zollino, G.Neri, J.Barber, D.Wieczorek, M.Rocchi, O.Zuffardii: Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am. J. Hum. Genet. 71:276-285 (2002)

J.A.Bailey, A.M.Yavor, L.Viggiano, D.Misceo, J.E.Horvath, N.Archidiacono, S.Schwartz, M.Rocchi and E.E.Eichler: Recent Paralogous Structure of Human Chromosome 22. Am. J. Hum. Genet. 70:83-100 (2002)

G.Specchia, F.Albano, C.T. Storlazzi, L.Anelli, A.Zagaria, V.Liso, M. Rocchi. t(15;17) in acute promyelocytic leukemia is not associated with submicroscopic deletions on der(17). Haematologica 87:775-7 (2002)

C.T.Storlazzi, L.Anelli, C.Surace, A. Lonoce, A.Zagaria , M.Nanni, P.Curzi, M.Rocchi: Molecular Cytogenetic Characterization of a Complex Rearrangement Involving Chromosomes 9 and 22 in a Case of Ph Negative Chronic Myeloid Leukemia. Cancer Genet Cytog. 134: 109-113 (2002)

M.Ruault, M.E.Brun, M.Ventura, G,Roizès, and A.De Sario: MLL3, a new human member of the TRX/MLL gene family, maps to 7q36, a chromosome region frequently deleted in myeloid leukemia. Gene. 284:73-81 (2002)

Meloni, I.; Vitelli, F.; Pucci, L.; Lowry, R. B.; Tonlorenzi, R.; Rossi, E.; Ventura, M.; Rizzoni, G.; Kashtan, C. E.; Pober, B., and Renieri, A.: Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR). J Med Genet. 39:359-365 (2002)

S.Pellegrini, S.Censini, S.Guidotti, P.Iacopetti, M.Rocchi, M.Bianchi, A.Covacci and F.Gabrielli: A human short-chain dehydrogenase/reductase gene: structure, chromosomal localization, tissue expression and subcellular localization of its product. Bioch. Bioph. Acta 1574: 215-22 (2002)

M. Crosier, L. Viggiano , J. Guy, D. Misceo1, R. Stones, T. Hearn, M. Ventura, N. Archidiacono, M. Rocchi, and M. S. Jackson: Human paralogues of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms. Genome Res. 12: 67-80 (2002)

L.Sainati, A.Leszl, C.Surace, G.Perilongo, M.Rocchi, G.Basso: Fluorescence in situ hybridization improves cytogenetic results in the analysis of hepatoblastoma. Cancer Genet. Cytog. 134:18-20 (2002)

Specchia G, Albano F, Anelli L, Storlazzi CT, Monaco M, Capalbo S, Rocchi M, Liso V.: Concomitant tetrasomy 3q and trisomy 18 in CD5(-), CD13(+) chronic lymphocytic leukemia. Cancer Genet Cytogenet. 133:160-3 (2002)

Vitale E, Cook S, Sun R, Specchia C, Subramanian K, Rocchi M, Nathanson D, Schwalb M, Devoto M, Rohowsky-Kochan C.: Linkage analysis conditional on HLA status in a large North American pedigree supports the presence of a multiple sclerosis susceptibility locus on chromosome 12p12. Hum Mol Genet. 11:295-300 (2002)


Eichler EE, Johnson ME, Alkan C, Tuzun E, Sahinalp C, Misceo D, Archidiacono N, Rocchi M.: Divergent Origins and Concerted Expansion of Two Segmental Duplications on Chromosome 16. J Hered. 92:462-468 (2001)

M.Rosati, M.Rocchi, C.T,Storlazzi, and G.Grimaldi: Gene organization, splicing and mapping to chromosome 12q24.33 of the human ZNF84 KRAB/FPB containing zinc finger gene. Cytog. cell Genet. 94:127-130 (2001)

F.Gianfrancesco, R.Sanges, T.Esposito, S.Tempesta , E.Rao, G.Rappold, N.Archidiacono, Jennifer A.M. Graves4, Antonino Forabosco and Michele D'Urso. Differential divergence of three human pseudoautosomal genes and their mouse homologues: implications for sex chromosome evolution. Genome Res. 11:2095-2100 (2001)

M.Ventura, M.Boniotto, M.F.Cardone, L.Fulizio, N.Archidiacono, M.Rocchi, S.Crovella: Characterization of a highly repeated DNA sequence family in five species of the genus Eulemur. Gene 275:305-310 (2001)

M.E. Johnson, L.Viggiano, J.A. Bailey, M.Abdul-Rauf, G. Goodwin, M.Rocchi, E.E. Eichler: Positive selection of a gene family during the emergence of humans and African apes. Nature 413: 514-519

L.Crisponi, M.Deiana, A.Loi, F.Chiappe, M.Uda, P.Amati, L.Bisceglia, L.Zelante, R.Nagaraja, S.Porcu, M.S.Ristaldi, R.Marzella, M.Rocchi, M.Nicolino, A.Lienhardt-Roussie, ANivelon, A.Verloes, D.Schlessinger, P.Gasparini, D.Bonneau, A.Cao, and G.Pilia. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat. Genet. 27: 159-166 (2001).

De Benedictis L, Polizzi A, Cangiano G, Buttiglione M, Arbia S, Tiziana Storlazzi C, Rocchi M, Gennarini G.: Alternative promoters drive the expression of the gene encoding the mouse axonal glycoprotein F3/contactin. Brain Res Mol Brain Res. 95: 55-74 (2001)

A.Nietzel, M.Rocchi, H.Starke, A.Heller, W.Fiedler, I.Wlodarska, I.F.Loncarevic, V.Beensen, U.Claussen, T.Liehr: A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum. Genet. 108:199-204 (2001)

M.Ventura, N.Archidiacono, M.Rocchi: Centromere emergence in evolution. Genome Research 11: 595-599 (2001)

C.Alexander, S.L.Bernstein, M.Rocchi, GAuburger. Saturating Density of STSs (1/6 kb) in a 1.1 Mb Region on 3q28-q29: A Valuable Resource for Cloning of Disease Genes. Eur J Hum Genet 20307-310 (2001)

G.Specchia, A.Mestice, T.C.Storlazzi, L.Anelli, A.Pannunzio, M.G. Roberti, M.Rocchi, V.Liso: A novel translocation t(2;9)(q14;p12) in AML-M2 with an uncommon phenotype: myeloperoxidase-positive and myeloid antigen-negative. Leukemia Res. 25:501-507 (2001)

G.Specchia, C.T.Storlazzi, A.Cuneo, C.Surace, A.Mestice, A.Pannunzio, M.Rocchi, V.Liso: Acute promyelocytic leukemia with additional chromosome abnormalities in a renal transplant case. Ann. of Hemat. 80:246-250 (2001)

V.Iacobazzi, M.Ventura, G.Fiermonte, G.Prezioso, M.Rocchi and F.Palmieri: Genomic organization and mapping of the gene encoding the human deoxynucleotide carrier (DNC). 93:40-42 (2001)

Langer S, Fauth C, Rocchi M, Murken J, and Speicher MR. AcroM fluorescent in situ hybridization analyses of marker chromosomes. Hum Genet. 109:152-8 (2001)

S.Mumm, L.Herrera, P.W.Waeltz, A.Scardovi, R.Nagaraja, T.Esposito, M.T.Ross, D.Schlessinger, M.Rocchi, A.Forabosco: X/autosomal translocations in the Xq critical region associated with premature ovarian failure fall both within and outside genes. Genomics 1-3: 30-36 (2001)

E.Vitale,.C.Specchia, M.Devoto, A.Angius, S.Rong, M.Rocchi, M.Schwalb, L.Demelas, D.Paglietti, S.Manca, C.Mastropaolo, G.Serra: A novel X-linked mental retardation syndrome with short stature maps to Xq24. Am. J. Med. Genet. 103:1-8 (2001)

M.Ventura, M.Boniotto, M.F.Cardone, L.Fulizio, N.Archidiacono, M.Rocchi, S.Crovella: Characterization of a highly repeated DNA sequence family in five species of the genus Eulemur. Gene 275:305-310 (2001)

F. Gianfrancesco, G. Falco, T. Esposito, M. Rocchi and M. D'Urso: Characterization of the murine orthologue of a novel human subtelomeric multigene family . Cytog Cell Genet in press

G.Specchia, F.Albano, L.Anelli, C.T.Storlazzi, M.Monaco, S.Capalbo, M.Rocchi, V.Liso: Concomitant tetrasomy 3q and trisomy 18 in CD5- CD13+ chronic lymphocytic leukemia. Cancer Genet. Cytog. in press

L.De Benedictis, A.Polizzi, G.Cangiano, M.Buttiglione, S.Arbia, C.T.Storlazzi, M.Rocchi and G.Gennarini. Alternative Promoters Drive The Expression Of The Gene Encoding The Mouse Axonal Glycoprotein F3/Contactin. Mol. Brain Res. (2001) in press.

J.A.Bailey, A.M.Yavor, L.Viggiano, D.Misceo, J.E.Horvath, N.Archidiacono, S.Schwartz, M.Rocchi and E.E.Eichler: Recent Paralogous Structure of Human Chromosome 22. Am. J. Hum. Genet. in press

M. Crosier, L. Viggiano , J. Guy, D. Misceo, R. Stones, T. Hearn, M. Ventura, N. Archidiacono, M. Rocchi, and M. S. Jackson: Human paralogues of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms. Genome Res. in press


J. E. Horvath, L.Viggiano, B.J. Loftus, M.D.Adams, N.Archidiacono, M.Rocchi, E.E. Eichler: Molecular structure and evolution of an alpha-satellite junction at 16p11. Hum. Mol. Gen. 9:113-123 (2000)

A.Ciccodicola, M.D'Esposito, T.Esposito, F.Gianfrancesco, C.Migliaccio, M.G. Miano, M.R.Matarazzo, M.Vacca, A.Franzè, M.Cuccurese, M.Cocchia, A.Curci, A.Terracciano, A.Torino, S.Cocchia, G.Mercadante, E.Pannone, .Archidiacono, M.Rocchi, D.Schlessinger and M.D'Urso Differentially regulated and evolved genes in the fully sequenced Xq pseudoautosomal region. Hum.Mol.Genet. 12:395-401 (2000)

Muller S, Stanyon R, Finelli P, Archidiacono, N, & Wienberg J. Molecular cytogenetic dissection of human chromosome 3 and 21 evolution. PNAS 97: 206-211 (2000)

A.Cabibbo, M.Pagani, M.Fabbri, M.Rocchi, M.Farmery, N.Bulleid and R.Sitia: ERO1-L: a Human Functional homologue of S. cerevisiae Ero1p that interacts with protein disulfide isomerase in the endoplasmic reticulum of mammalian cells. J. Biol. Chem. 18:4827-4833 (2000)

R. Marzella, L. Viggiano, V. Miolla, C.T. Storlazzi, A.Ricco, E. Gentile, R. Roberto, A.Fratello, M. Mancini, N. Archidiacono, M. Rocchi: Molecular cytogenetic resources for chromosome 4 and comparative analysis of phylogenetic chromosome IV in great apes. Genomics 63:307-313 (2000)

G.Pruneri, Fabris S, Baldini L, Carboni N, Zagano S, Colombi MA, Ciceri G, Lombardi L Rocchi M, Buffa R, Maiolo AT, Neri A.: Immunohistochemical analysis of cyclin D1 shows deregulated expression in multiple myeloma with the t(11;14) and provides diagnostic marker Am. J. of Pathol. 156:1505-1513 (2000).

F. Vitelli, I. Meloni, S. Fineschi, F. Favara, C. T. Storlazzi, M. Rocchi, A. Renieri: Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3. Cytog. Cell Genet. 88,259-263 (2000).

Heller, A., Seidel, J., Hubler, A., Starke, H., Beensen, V., Senger, G., Rocchi, M., Wirth, J., Chudoba, I., Claussen, U., and Liehr, T.: Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review. J Med Genet, 37,529-532 (2000)

Bardoni, B., Giglio, S., Schenck, A., Rocchi, M., and Mandel, J.L.: Assignment of NUFIP1 (Nuclear FMRP Interacting Protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12. Cytogenet Cell Genet, 89,11-13 (2000)

J. Guy, C. Spalluto, A. McMurray, T. Hearn, M. Crosier, L. Viggiano, V. Miolla, N. Archidiacono, M. Rocchi, C. Scott, P.A. Lee, J. Sulston, J. Rogers, D. Bentley and M. S. Jackson: Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10q. Hum. Hum. Mol. Genet. 9: 2029-2042 (2000)

C.T.Storlazzi, V.Liso, F.Albano, G.Castoldi, M.Rocchi, G.Specchia. Acute myeloblastic leukemia with minimal myeloid differentiation featuring a three-way translocation t(8;13;14). Haematologica 85,1099-1100 (2000)

Bassi, C., Magnani, I., Sacchi, N., Saccone, S., Ventura, A., Rocchi, M., Marozzi, A., Ginelli, E., and Meneveri, R. Molecular structure and evolution of DNA sequences located at the alpha satellite boundary of chromosome 20. Gene, 256,43-50 (2000).


Jackson MS, Rocchi M, Thomson G, Hearn T, Crozier M, Guy J, Kirk D, Mulligan L, Ricco A, Marzella R, Viggiano and Archidiacono N: Sequences flanking the centromere of human chromosome 10 are a complex patchwork orf arm-specific sequences, stable duplications, and unstable sequences with homologies to telomeric and other centromeric locations. Hum. Mol. Genet. 8:205-215 (1999)

Ronchetti D, Finelli P, Richelda R, Baldini L, Rocchi M, Viggiano L, Cuneo A, Bogni S, Fabris S, Lombardi L, Maiolo AT, and Neri A: Molecular analysis of 11q13 breakpoints in multiple myeloma. Blood 93:1330-1337 (1999)

A Messina, M Oliva, C Rosato, M Huizing, W Ruitenbeek, L P. van den Heuvel, M Forte, M Rocchi and V De Pinto: Mapping of HVDAC1 and 2 reconsidered. Biochem. Biophys. Res. Comm. 255:707-710 (1999)

G.Specchia, A.Cuneo, V.Liso, R.Contino, D.Pastore, E.Gentile, M.Rocchi, G.L.Castoldi: A novel translocation t(1;7)(p36;q34) in three patients with acute myeloid leukemia. Brit. J. Haemat. 105:208-214 (1999)

E Montini, G Buchner, C Spalluto, G Andolfi, A Caruso, JT den Dunnen, D Trump, M Rocchi, A Ballabio, B Franco: Identification of SCML2, a second human gene homologous to the Drosophila Sex comb on midleg (Scm): a new gene cluster in Xp22. Genomics 58:65-72 (1999)

L. Viggiano, M. Rocchi, M. Svelto, and G. Calamita: Assignment of the Aquaporin-8 (hAQP8) water channel gene to human chromosome 16p12. Cytog. Cell Genet. 84:208-210 (1999)

B. Scognamiglio, G. Baldassarre, C. Cassano, M. Tucci, N. Montuori, R. Dono, G. Lembo, A. Barra, C.T. Lago, G. Viglietto, M. Rocchi, and M.G. Persico: Assignment of human teratocarcinoma derived growth factor (TDGF) sequences to chromosomes 2q37, 3q22, 6p25 and 19q13.1. Cytog. Cell Genet. 84:220-224 (1999)

Calamita G, Spalluto C, Rocchi M, and Maria Svelto: Cloning, structural organization and chromosomal localization of the mouse Aquaporin-8 gene. Cytog. Cell Genet. 85:237-241 (1999)

R Morello, LTonachini, M Monticone, L Viggiano, M Rocchi, R Cancedda and P Castagnola: cDNA cioning, characterization and chromosome mapping of Crtap encoding the mouse Cartilage Associated Protein. Matrix Biol. 18:319-324

Calabrese, G., Fischetto, R., Stuppia, L., Capodiferro, F., Mingarelli, R., Causio, F., Rocchi, M., Rappold, G. A., and Palka, G. X/Y translocation in a family with Leri-Weill dyschondrosteosis. Hum Genet 105, 367-8 (1999).

M.Brancaccio, S.Guazzone, N.Menini, E.Sibona, E.Hirsch, M.Rocchi, F.Altruda, G.Tarone and L.Silengo: Melusin: a new muscle-specific interactor for b1 integrin cytoplasmic domain. J. Biol. Chem. 274(41):29282-29288 (1999)

L Viggiano,V Miolla, A Ricco, CT Storlazzi, M Pennacchia, A Fratello, M Mancini, R Marzella, N Archidiacono, M Rocchi : Molecular Cytogenetic Resources Specific For Chromosome 12. Am. J. Med. Genet. 87, 40-44 (1999)

Vaccari, T., Moroni, A., Rocchi, M., Gorza, L., Bianchi, M. E., Beltrame, M., and DiFrancesco, D.: The human gene coding for HCN2, a pacemaker channel of the heart. Biochim Biophys Acta 1446, 419-25 (1999)

A.W.I.Lo, G.C.-C. Liao, M.Rocchi, A.K.Choo: Extreme reduction of chromosome-specific a-satellite domain is unusually common in human chromosome 21. Genome Res. 9, 895-908 (1999)

E.E. Eichler, N.Archidiacono, M. Rocchi: Pericentromeric repeats and the pericentromeric duplication of the hominoid genome. Genome Res. 9:1048-1058 (1999).

M. Mariani, D. Baldessari, S. Francisconi, L. Viggiano, M. Rocchi, V. Zappavigna, N. Malgaretti, and G. G. Consalez: Two murine and human homologs of mab-21, a cell fate determination gene involved in C. elegans neural development Hum. Mol. Genet. 8:2397-2406 (1999).

A. Fogli, S. Giglio, Giulia Arrigo, C.Lo Nigro, M.Zollo, L.Viggiano, M.Rocchi, N.Archidiacono, O. Zuffardi, R. Carrozzo: Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes Cytig. Cell Genet. 86:225-232 (1999)

Rocchi, M., Gentile, E., Rosati, M., and Grimaldi, G. The human KRAB/FPB containing zinc finger gene ZNF2 maps to chromosome 2q11.2. Cytogenet Cell Genet 86:305-306 (1999)

M.Vacca , Matarazzo, M.R., Jones, J., Spalluto, C., Archidiacono, N., Rocchi, M., D'Urso, M., Chen, E.Y., D'Esposito, M., and S. Mumm. Evolution of the X-specific block embedded in the human Xq21.3/Yp11.1 homology region. Genomics, 62, 293-296, (1999).

Nieddu M, Rossino R,Pichiri G, Rocchi M, Setzu MD, Mezzanotte R: The efficiency of in situ hybridization of human chromosomes with alphoid DNAs is enhanced by previous digestion with AluI and TaqI. Chrom. Res. 7: 593-602 (1999)

Tiranti, V., Lamantea, E., Uziel, G., Zeviani, M., Gasparini, P., Marzella, R., Rocchi, M., and Fried, M.. Leigh syndrome transmitted by uniparental disomy of chromosome 9. J Med Genet 36:927-8 (1999)

G. Montefalcone, S. Tempesta, M. Rocchi and N.Archidiacono: Centromere repositioning. Genome Res. 9: 1184-1188 (1999)


De Capoa A, Di Leandro M, Grappelli C, Menendez F, Poggesi I, Giancotti P, Marotta MR, Spano' A, Rocchi M, Archidiacono M, Niveleau A: Computer-assisted analysis of methylation status of individual interphase nuclei in human cultured cells. Cytometry 31:1-8 (1998)

Sardella M, Navone F, Rocchi M, Rubartelli A, Viggiano L, Vignali G, Sitia R and Cabibbo A: Kif3C, KIF3C, a novel member of the kinesin superfamily: sequence, expression, and mapping to human chromosome 2 at 2p23. Genomics 47:405-408 (1998)

Berthelsen J, Viggiano L, Schulz H, Ferretti E, Consalez GG, Rocchi M, and Blasi F: pKNOX1, encoding a new regulator of Pbx activity, maps on human chromosome 21q22.3 and murine chromosome 17. Genomics 47:323-324 (1998)

Strazzullo M, Parisi T, Di Cristofano A, Rocchi M and La Mantia G: Characterization and genomic mapping of chimeric ERV9 endogenous retroviruses-host gene transcripts. Gene 206:77-83 (1998)

Panarello C, Rosanda C, Morerio C, Russo I, Dallorso S, Gambini C, Ricco AS, Storlazzi CT, Archidiacono N, Mariano Rocchi: Lipoblastoma: a case with t(7;8)(q31)(q13). Cancer Genet. Cytog. 102:12-14 (1998 )

Viggiano L, Marzella R, Ricco AS, Storlazzi TC, Fratello A, Varella-Garcia M, Archidiacono N, Rocchi M: A Panel of Partial Chromosome Paints and YAC probes Specific for Human Chromosome 2. Somat. Cell Mol. Genet. 24:13-21 (1998)

Zingoni A, Soto H, Hedrick J, Stoppacciaro A, Storlazzi CT, Sinigaglia F, D'Ambrosio D, O'Garra A, Robinson D, Rocchi M, Santoni A, Zlotnik A, and Napolitano M: The Chemokine Receptor CCR8 is Preferentially Expressed in T Helper 2 cells but not T Helper 1 cells. J. of Immunology 161:547-551 (1998)

Fiaschi T, Marzella R, Veggi D, R. Marzocchini R, Raugei G, Rocchi M, Ramponi G: Assignment of the Human Erythrocyte Acylphosphatase Gene (ACYPE-PEN) to Chromosome Band 14q24.3. Cytog. Cell Genet. 81:235-236 (1998)

Calabrese G, Stuppia L, Morizio E, Guanciali Franchi P, Pompetti F, Mingarelli R, Tarsilio T, Rocchi M, Gallenga PE, Palka G, Dallapiccola B: Detection of an insertion deletion region 8q13-q21.2 in a patient with Duane syngrome: implication for mapping and cloning of a Duane gene. Eur. J. Hum. Genet. 6:187-193 (1998)

Archidiacono A, Storlazzi CT, Spalluto C, Ricco AS, Marzella R, Rocchi M: Evolution of Chromosome Y in primates. Chromosoma 107:241-246 (1998)

Tiranti V, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Enriquez A, Uziel G, Bertini E, Dionisi-Vici C, Zeviani M: Identification of a locus for Leigh disease associated with cytochrome c oxidase deficiency on the subtelomeric region of chromosome 9q. Am.J.Hum.Genet. 63:1609-1621 (1998).

D'Esposito M, Strazzullo M, Cuccurese M, Spalluto C, Rocchi M, D'Urso M, Ciccodicola A: Identification and assignment of the human transient receptor potential channel 6 gene TRPC6 to chromosome 11q21Æq22. Cytog. Cell Genet. 83:46-47 (1998)

Piccininni S, Iacobazzi V, Lauria G, Rocchi M, Palmieri F: Assignment of the oxoglutarate carrier (OGC) gene to human chromosome 17p13.3. Cytog. Cell Genet. 83:256-7 (1998)

Pannone E, Fiermonte G, Dolce V, Rocchi M, and Palmieri F: The human dicarboxylate carrier gene (DIC) maps on chromosome 17, band 17q25.3 Cytog. Cell Genet. 83:238-9 (1998)


Tiranti V, Savoia A, Forti F, D'Apolito M-F, Centra M, Rocchi M, Zeviani M: Identification of the gene encoding the human mitochondrial RNA polymerase (H-MTRPOL) by cyberscreening of the expresssed sequence TAGs database. Hum Mol Genet 6:615-626 (1997)

Gianfrancesco F, Esposito T, Ruini L, Houlgatte R, Nagaraja R, D'Esposito M, Rocchi M, Auffray C, Schlessinger D, D'Urso M, Forabosco F: Mapping of 59 EST gene markers in 31 intervals spanning the human X chromosome. Gene 187:179-184 (1997)

Malaspina P, Ciminelle B, Viggiano L, Jodice C, Cruciani F, Santolamazza P, Sellitto D, Scozzari R, Terrenato L, Rocchi M, Novelletto A: Polymorphic X-Y homologous loci reveal a non-reduced mutability of the human Y chromosome. J. Mol. Evol. 44:652-659 (1997)

Eichler EE, Budarf M, Rocchi M, Deaven L, Doggett NA, Baldini A, Nelson DL, Mohrenweiser HW: Interchromosomal duplication of the adrenoleukodystrophy locus: a phenomenon of pericentric plasticity. Hum. Mol. Genet. 6: 991-1002 (1997)

Zingoni A, Rocchi M, Storlazzi TC, Bernardini G, Santoni A, Napolitano M: Isolation and chromosomal localization of a human gene encoding a novel G-protein coupled receptor. Genomics 42:519-523 (1997)

Marzella R, Viggiano L, Ricco A, Tanzariello A, Fratello A, Archidiacono N, Rocchi M: A panel of radiation hybrids and YAC clones specific for chromosome 5. Cytog. Cell Genet. 77:232-237 (1997)

Muller S, Rocchi M, Ferguson-Smith MA, Wienberg J: Toward a multicolor chromosome bar code for the entire human karyotype by fluorescence in situ hybridization. Hum. Genet. 100:271-278 (1997)

D'Esposito M, M R. Matarazzo, Ciccodicola A, Strazzullo M, Mazzarella R, Quaderi NA, Fujiwara H, Ko MSH, Rowe LB, A. Ricco, Archidiacono N, Rocchi M, Schlessinger D, D'Urso M: Differential expression pattern of XqPAR-linked genes SYBL1 and IL9R correlates with the structure and evolution of the region. Hum. Mol. Genet. 6:1917-1923 (1997)

Kehrer-Sawatzki H, Schwickardt T, Assum G, Rocchi M, Krone W: A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2. Hum.Genet. 100:595-600 (1997)

Jolly C, Michelland S, Rocchi M, Robert-Nicoud M, and Vourc'h C: Analysis of the transcriptional activity of amplified genes in tumor cells by fluorescence in situ hybridization. Hum. Genet. 101:81-87 (1997)

Canu N, Possenti R, Ricco AS, Rocchi M and Levi A: Cloning, structural organization analysis, and chromosomal assignment of the human gene for the neurosecretory protein VGF. Genomics 45:443-446 (1997)

Richelda R, Ronchetti D, Baldini L, Cro L, Viggiano L, Marzella R, Rocchi M, Otsuki T, Lombardi L, Maiolo AT, and Neri A: A novel chromosomal translocation t(4;14)(p16.3;q32) in multiple myeloma involves the fibroblast growth-factor receptor 3 gene. Blood 90:4062-4070 (1997)

Viggiano L, Iacobazzi V, Marzella R, Cassano C, Rocchi M, Palmieri: Chromosomal localization of the human mitochondrial carnitine/acylcarnitine carrier (CAC) gene to 3p21.31. Cytog. Cell Genet. 79:62-63 (1997)

Marzella R, Kokkinaki MA, Kapsetaki M, Ricco AS, Argyrokastritis A, Kamakari S, Sarafidou T, Archidiacono N, Roussou A, Pasparaki A, Rocchi M, Moschonas NK: Molecular and cytogenetic characterization of a panel of somatic cell hybrids and genomic clones specific for human chromosome 10. Cytog. Cell Genet. 79:257-265 (1997)

Zelante L, Dallapiccola B, Calvano S, Memeo E, Gasparini P, Simi P, Rossi S, Finelli P, Rocchi M, Archidiacono N: Two mosaic-YY males carrying asymmetric Y chromosomes. Clin Genet 51:65-8 (1997)


Muller S, Koehler U, Wienberg J, Marzella R, Finelli P, Antonacci R, Rocchi M, Archidiacono N: Comparative fluorescence in situ hybridization mapping of primate chromosomes with Alu-PCR generated probes from human/rodent somatic cell hybrids. Chrom. Res. 4:38-42 (1996)

Meroni G, Franco B, Archidiacono N, Messsali S, Andolfi G, Rocchi M and Ballabio A. Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. Hum Mol Genet 5:423-432 (1996)

Maraschio P, Tupler R, Rossi E, Barbierato L, Uccellatore F, Rocchi M, Zuffardi O and Fraccaro M. A novel mechanism for the origin of supernumerary chromosomes. Hum.Genet. 97:382-386 (1996)

Barbetti F, Rocchi M, Bossolasco M, Cordera R, Sbraccia P, Finelli P, Consalez GG: The human skeletal muscle glycogenin gene: cDNA, tissue expression, and chromosomal localization. Biochem Biophys Res Comm 220: 72-77 (1996)

Vincenti V, Cassano C, Rocchi M, Persico G: Assignment of the Vascular Endothelial Growth Factor (VEGF) Gene to Human Chromosome 6p21.3. Circulation 93:1493-1495 (1996)

Nelis E, Van Broeckhoven C, ...Archidiacono N, Rocchi M and al.: Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP): a European collaborative study. Eur. J. Hum. Genet. 4:425-433 (1996)

Robledo R, Melis P, Siniscalco M, Marchi J, Laficara F, Rinaldi A, Rocchi M, Filippi G: +2.71 LOD score at zero recombination is not sufficient for establishing linkage between X-linked mental retardation and X-chromosome markers. Am.J.Med.Genet. 64:134-136 (1996)

Ferrari S, Finelli P, Rocchi M, Bianchi ME: The active gene that encodes human high mobility group 1 protein contains introns and maps to chromosome 13. Genomics 35:367-371 (1996)

Villa A, Strina D, Frattini A, Faranda S, Macchi P, Bozzi F, Susani L, Archidiacono N, Rocchi M, P Vezzoni: The ZNF75 zinc finger gene subfamily: isolation and mapping of the four members in human and great apes. Genomics 35:312-320 (1996)

Spurr NK, Bashir R, Bushby K, Cox A, Cox S, Hildebrandt F, Hill N, Kao F-T, Krols L, Marzella R, Miller N, Nothwang HG, Rocchi M, Sarfarazi M, Stratakis CA, Wallgren-Pettersson C, Naylor S: Report of the four international workshop on human chromosome 2 mapping 1996. Cytogenet. Cell. Genet. 73:255-273 (1996)

Rocchi M, Antonacci R, Marzella R, Finelli P, Cassano C, Lonoce A, Cino C, Forabosco A, Archidiacono N: Subchromosomal painting libraries (SCPLs) from somatic cell hybrids. Chromosomes Today Vol. 12 : 56-64 (1996)

Finelli P, Antonacci R, Marzella R, Lonoce A, Archidiacono N and Rocchi M: Structural organization of multiple alphoid subsets coexisting on human chromosomes 1, 4, 5, 7, 9, 15, 18, and 19. Genomics 38:325-330 (1996)

Jones A-M, Marzella R, Rocchi M, Hewitt JE: Mapping of the human ribosomal protein gene RPS24 to the chromosome 10q22-q23 boundary. Genomics 39:121-122 (1966)

Napolitano M, Zingoni A, Bernardini G, Spinetti G, Nista A, Storlazzi CT, Rocchi M, Santoni A: Molecular cloning of CHR2, a cytokine receptor-like gene expressed by lymphoid cells. J. of Immunology 157:2759-2763 (1996)


Antonacci R, Marzella R, Finelli P, Lonoce A, Forabosco A, Archidiacono N, Rocchi M: A panel of subchromosomal painting libraries representing over 300 regions of the human genome. Cytogenet. Cell. Genet. 68:25-32 (1995)

Ottone F, Raimondi E, Rocchi M, Giussani F, Malcovati M, Tenchini M: Refined localization of human peroxisomal 3-oxoacyl-CoA thiolase (ACAA) to 3p22. Hum. Hered. 45:75-79 (1995)

Archidiacono N, Antonacci R, Marzella R, Finelli P, Lonoce A, Rocchi M: Comparative mapping of human alphoid sequences in great apes, using fluorescence in situ hybridization. Genomics 25:477-484 (1995)

Tiranti V, Rossi E, Ruiz-Carrillo A, Rossi G, Rocchi M, Di Donato S, Zuffardi O, Zeviani M: Chromosomal localization of mitochondiral transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis. Genomics 25: 559-564 (1995)

Antonacci R, Rocchi M, Archidiacono N, Baldini A: Ordered mapping of three alpha satellite DNA subsets on the human chromosome 22. Chrom. Res. 3:134-127 (1995)

Meneveri R, Agresti A, Rocchi M, Marozzi A, Ginelli E: Analysis of GC-rich repetitive nucleotide sequences in great apes. J. Mol. Evol. 40:405-412 (1995)

Mandich P, James R, Nassani S, Defferrari R, Bellone E, Mancardi GL, Schenone A, Abbruzzese M, Rocchi M, Ajmar F, Archidiacono N: Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian HNPP families. J. Neur. 242:295-298 (1995)

Uncini A, Di Guglielmo G, Di Muzio A, Gambi D, Sabatelli M, Mignogna T, Tonali P, Marzella R, Finelli P, Archidiacono N and Rocchi M: Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication. Muscle Nerve 18:628-635 (1995)

Tiranti V, Rossi E, Rocchi M, DiDonato S, Zuffardi O, Zeviani M: The gene (NFE2L1)for human NRF-1, an activator involved in nuclear-mitochondrial interactions, maps to 7q32. Genomics 27:555-557 (1995)

Hulsebos TJM, Cerosaletti KM, Fournier REK, Sinke RJ, Rocchi M, Marzella R, Jenkins NA, Gilbert DJ, Copeland NG: Identification of the human bA2 cristallin gene; localization of the gene on human chromosome 2 and of the homologous gene on mouse chromosome 1. Genomics 28:543-548 (1995)


Antonacci R, Colombo I, Archidiacono N, Volta M, DiDonato S, Finocchiaro G, Rocchi M: Assignment of the gene encoding the beta-subunit of the electron-transfer flavoprotein (beta-ETF) to human chromosome 19, band q13.3. Genomics 19:177-179 (1994)

Archidiacono N, Antonacci R, Forabosco A, Rocchi M: Preparation of human chromosome painting probes from somatic cell hybrids. In: Methods in Molecular Biology, Vol. XX: In situ Hybridization Protocols. Choo KHA, ed. Totowa, NJ: Humana Press Inc., 1-13 (1994)

Finelli P, Archidiacono N, Antonacci R, Marzella R, Walter M, Spillett D, Rocchi M: Cytogenetic characterization of a panel of somatic cell hybrids representing over 90 fragments of human chromosome 2. . Cytogenet. Cell. Genet. 67:239 (1994)

Mandich P, Schito AM, Bellone E, Antonacci R, Finelli P, Rocchi M, Ajmar F: Mapping of human NMDA receptor subunit (NMDAR2B) to chromosome 12p12. Genomics 22:216-218 (1994)

Migliazza A, Lombardi L, Rocchi M, Trecca D, Chang C-C, Antonacci R, Fracchiolla NS, Ciana P, Maiolo AT, Neri A: Heterogeneous chromosomal aberrations generate 3' truncations of the NFKB2/lyt-10 gene in lymphoid malignancies. Blood 84:3850-3860 (1994)

Murru S, Casula L, Casarino L, Moi P, Rocchi M, Loi A, Figus A, Mannella M, Poddie D, Kenwrick S, Mori P, Cao A, Pirastu M: A DNA fragment from Xq21 replaces a deleted region containing the entire FVIII gene in a severe hemophilia A patient. Genomics 23:352-361 (1994)

Rocchi M, Archidiacono N, Antonacci R, Finelli P, D'Aiuto L, Carbone R, Lindsay E, Baldini A: Cloning and comparative mapping of a recently evolved human chromosome 22-specific alpha satellite DNA. Somatic. Cell and Mol. Genet. 20:443-448 (1994)

Scupoli MT, Cestari T, Nicolis M, Cambiaggi C, Rocchi M, Accolla RS: Interspecies somatic T-cell hybrids as biological tools for studying gene expression during T-cell development. Int J. Clin. Lab. Res. 24:203-207 (1994)

Spurr NK, Barton H, Bashir R, Bryson GM, Bushby K, Cox S, Gringrich JC, Hentati A, Hildebrandt F, Kao F-T, Kruse T, Lai E, Liu J, Menke M, Naylor S, Nicklin M, Read A, Rocchi M, Summar M: Report of the third international workshop on human chromosome 2 mapping 1994. Cytogenet. Cell. Genet. 67:216-244 (1994)

Szpirer C, Molne MM, Antonacci R, Jrmkins N, Finelli P, Szpirer J, Riviere M, Rocchi M, Gilbert DJ, Copeland NG, Gallo V: The genes encoding the glutamate receptor subunit KA1 anf KA2 (GRIK4 and GRIK5) are located on separate chromosomes in human, mouse, and rat. Proc. Natl. Acad. Sci. (USA) 91:11849-11853 (1994)

Zelante L, Calvano S, Dallapiccola B, Antonacci R, Rocchi M: Patient with de novo 12p+ syndrome identified as dir dup (12)p13.1-pter) using subchromosomal painting libraries from somatic cell hybrids. Clin. Genet. 46:368-371 (1994)

Volinia S, Hiles J, Ormondroyd E, Nizetic D, Antonacci R, Rocchi M, Waterfield MD: Molecular cloning, cDNA sequence, and chromosomal localization of the human phosphatidylnositol 3-kinase p110 alpha gene. Genomics 24:472-477 (1994)

Uncini A, Di Muzio A, Chiavaroli F, Gambi D, Sabatelli M, Archidiacono N, Antonacci R, Marzella R, Rocchi M: Hereditary motor and sensory neuropathy with calf hypertrophy is associated to 17p11.2 duplication. Ann. Neurol. 35:552-558 (1994)

Archidiacono N, Marzella R, Finelli P, Antonacci R, Jones C, Rocchi M: Characterization of chimpanzee-hamster hybrids by chromosome painting. Somatic. Cell. and Mol. Genet. 20:439-442 (1994)


Baldini A, Ried T, Shridhar V, Ogura K, D'Aiuto L, Rocchi M, Ward DC: An alphoid DNA sequence conserved in all human and great ape chromosomes: evidence for ancient centromeric sequences at human chromosomal regions 2q21 and 9q13. Hum. Genet. 90:577-583 (1993)

D'Aiuto L, Antonacci R, Marzella R, Archidiacono N, Rocchi M: Cloning and comparative mapping of a human chromosome 4-specific alpha satellite DNA sequence. Genomics 18:230-235 (1993)

Gasparini P, Grifa A, Origone P, Coviello D, Antonacci R, Rocchi M: Detection of a neurofibromatosis Type I (Nf1) homologous sequence by PCR - Implications for the diagnosis and screening of genetic diseases. Mol. Cell Probe. 7:415-418 (1993)

Grollino MG, CAvallo D, Di Silverio F, Rocchi M, De Vita R: Interphase cytogenetics and flow cytometry analyses of renal tumors. . Anticancer Res. 13:2239-2244 (1993)

Kamat AK, Rocchi M, Smith DI, Miller OJ: Lamin-A/C Gene and a Related Sequence Map to Human Chromosome- 1q12.1-q23 and Chromosome-10. Somat. Cell Mol. Genet. 19:203-208 (1993)

Maestrini E, Patrosso C, Mancini M, Rivella S, Rocchi M, Repetto M, Villa A, Frattini A, Zoppe M, Vezzoni P, Toniolo D: Mapping of 2 Genes Encoding Isoforms of the Actin Binding Protein ABP-280, a Dystrophin Like Protein, to Xq28 and to Chromosome-7. Hum. Mol. Genet. 2:761-766 (1993)

Marino M, Archidiacono N, Franze' A, Rosati M, Rocchi M, Ballabio A, Grimaldi G: A novel X-linked member of the human zinc finger protein gene family: isolation mapping and expression. Mamm. Genome 4:252-258 (1993)

Meneveri R, Agresti A, Marozzi A, Saccone S, Rocchi M, Archidiacono N, Corneo G, Della Valle G, Ginelli E: Molecular organization and chromosomal location of human GC-rich heterochromatic clocks. Gene 123:227-234 (1993)

Schaefer L, Ferrero GB, Grillo A, Bassi MT, Roth EJ, Wapenaar MC, van Ommen G-JB, Mohandas TK, Rocchi M, Zoghbi HY, Ballabio A: A high resolution deletion map of the human Xp22 region. . Nat. Genet. 4:272-279 (1993)

Superti-Furga A, Rocchi M, Schafer BW, Gitzelmann R: cDNA sequence and chromosomal mapping of a human extracellular proteoglycan-binding cell-adhesion protein (dermopontin). Genomics 17:463-467 (1993)

Tiranti V, Rocchi M, Di Donato S, Zeviani M: Cloning of human and rat cDNAs encoding the mitochondrial single-stranded-DNA binding protein (SSB). Gene 126:219-225 (1993)


A.Baldini, N.Archidiacono, R.Carbone, A.Bolino, V.Shridhar, O.J.Miller, D.A.Miller, D.C.Ward, M.Rocchi: Isolation of a human chromosome 20-specific alpha satellite DNA clone. Cytog.Cell Genet. 59:12-16 (1992)

E.Maestrini, S.Rivella, C.Tribioli, M.Rocchi, G.Camerino, P.Santachiara-Benerecetti, O.Parolini, L.D.Notarangelo, D.Toniolo: Identification of novel restriction fragment length polymmorphisms in the vicinity of CpG islands at Xq28: application to the analysis of the pattern of X chromosome inactivation. Am.J.Hum.Genet.50:156-163 (1992)

A.Daniele, F.Altruda, M.Ferrone, L.Silengo, G.Romeo, N.Archidiacono and M.Rocchi: Mapping of human hexokinase 1 gene to 10q11-qter. Human. Hered. 42:107-110 (1992)

L.Varesco, M.A.Caligo, P.Simi, D.M.Black, V.Nardini, L.Casarino, M.Rocchi, G.B.Ferrara, E.Solomon, G.Bevilacqua: The NM23-gene maps to human chromosome band 17q22, and shows a restriction fragment length polymorphism with BglII. Genes, Chrom. and Cancer 4:84-88 (1992)

G.Novelli, M.Gennarelli, M.Rocchi, B.Dallapiccola: Assignment of the slow Troponin (TNNT1) gene to chromosome 19 using polymerase chain reaction. Hum. Genet. 88:697-698 (1992)

H.Traupe, A.M.W van den Ouweland, B.A.van Oost, W. Vogel, U.Vetter, S.T.Warren, M.Rocchi, M.G.Darlison, H.-H. Ropers: Fine mapping of the human biglycan gene (proteoglycan 1) within the Xq28 region employing a hybrid cell panel. Genomics 13:481-483 (1992)

T.Gress, A.Baldini, M.Rocchi, H.Furneaux, J.B.Posner, M.Siniscalco: In situ mapping of the gene coding for a leucine zipper DNA binding protein (CDR62) to the regio between two rare fragile sites of autosome 16 (16p12-16p13.1) Genomics 13:1340-1342 (1992)

A.M.W. van den Ouweland, M.T.Knoop, V.V.A.M.Knoers, P.W.B. Markslag, M.Rocchi, S.T.Warren, H.H.Ropers, F.Fahrenholz, L.A.H.Monnens, B.A.van Oost: Colocalization of the gene for nephrogenic diabetes insipidus and the vasopressin type-2 receptor gene in the Xq28 region. Genomics 13:1350-1352 (1992)

A.M.W. van den Ouweland, J.C.F.M. Dreesen, M.Verdijk, V.V.A.M.Knoers, L.A.H. Monnens, M.Rocchi, B.A.van Oost: Mutation in the vasopressin type 2 receptor gene (AVPR2) are associated with nephrogenic diabetes insipidus. Nature Genetics 2:99-102 (1992)

F.Breviario, E.M.d'Aniello, J.Golay, G.Peri, B.Bottazzi, A.Bairoch, S.Saccone, R.Marzella, V.Predazzi, M.Rocchi, G.Della Valle, E.Dejana, A.Mantovani, M.Introna. Interleukin-1 inducible genes in endotelial cells: cloning of a new gene related to C-reactive protein and serum amyloid P component. J.Biolog. Chem. 267:22190-22197 (1992)

M.Rocchi: Ibridazione in situ non radioattiva. Prospettive in Pediatria 22:263-267 (1992)

N.Malgaretti, F.Acquati, P.Magnaghi, L.Bruno, M.Pontoglio, M.Rocchi, S.Saccone, G.Dellavalle, M.D'Urso, D.Lepaslier, S.Ottolenghi, R.Taramelli: Characterization by yeast artificial chromosome cloning of the linked apolipoprotein(a) and plasminogen genes and identification of apolipoprotein(a) 5' flanking region. P.N.A.S. 89:11584-11588 (1992)

R.Dante, M.E.Percy, A.Baldini, V.D.Markovic, D.A.Miller, M.Rocchi, A.Niveleau, O.J.Miller: Methylation of the 5' flanking sequences of the ribosomal DNA in human cell lines and in a somatic hybrid cell line. J. of Cellular Biochem. 50:357-362 (1992)


M.Rocchi, N.Archidiacono, D.C.Ward, A.Baldini: A human chromosome 9-specific alphoid DNA repeat spatially resolvable from satellite 3 DNA by fluorescent in situ hybridization. Genomics 9:517-523 (1991)

A.Franze', N.Archidiacono, M.Rocchi, M.Marino, G.Grimaldi: Isolation and expression analysis of a human zinc finger protein gene located on the short arm of the X chromosome. Genomics 9:728-736 (1991)

M.Alcalay, D.Zangrilli, P.P.Pandolfi, L.Longo, A.Mencarelli, A.Giacomucci, M.Rocchi, A.Biondi, A.Rambaldi, F.Lo Coco, D.Diverio, E.Donti, F.Grignani, P.G.Pelicci: Translocation breakpoint of acute promyelocytic leukemia lies within the retinoic acid receptor alpha locus. P.N.A.S. (USA) 88:1977-1981 (1991)

N.Archidiacono, M.Rocchi, M.Anvret, U.Francke, T.Oczelik, G.Romeo: Exclusion mapping of the X chromosome of Rett syndrome following the hypothesis of X-linked new mutation. Hum.Genet. 86:604-606 (1991)

M.Rocchi, N.Archidiacono, G.Romeo, M.Saginati and L.Zardi: Assignment of the gene for human tenascin to the region q32-q34 of chromosome 9. Hum.Genet. 86:621-623 (1991)

G.Finocchiaro, F.Taroni, M.Rocchi, A.L.Martin, I.Colombo, G.Torri Tarelli, S.DiDonato: cDNA cloning, sequence analysis and chromosomal localization of human carnitine palmitoyl-transferase. P.N.A.S. (USA) 88:661-665 (1991)

G.Filippi, A.Arslanian, F.Dagna-Bricarelli, M.Pierluigi, M.Grasso, A.Rinaldi, M.Rocchi, M.Siniscalco: The premutation for the Martin-Bell syndrome analyzed in a large pedigree segregating also for G6PD-defiency. I: a working hypothesis on the nature of the FRAX mutations. Am.J.Med.Genet. 40:387-394 (1991)

R.Dono, N.Montuori, M.Rocchi, L.De Ponti-Zilli, A.Ciccodicola, G.Persico: Isolation and characterization of the CRIPTO autosomal gene and its X-linked related sequence. Am.J.Hum.Genet. 49:555-565 (1991)

A.Zunino, G.Arena, O.Rossi, N.Archidiacono, M.Rocchi, G.Romeo, A.Abbondandolo: Chromosomal assignment of human 6-methylguanine-DNA-methyltransferase gene by hamster-human somatic cell hybrids. Mutagenesis 6:395-397 (1991)

A.Baldini, D.A.Miller, V.Shridhar, M.Rocchi, O.J.Miller, D.C.Ward: Comparative mapping of a gorilla-derived alpha satellite DNA clone on great ape and human chromosomes. Chromosoma 101:109-114 (1991)

R.Cervini, M.Rocchi, S.Di Donato, and G.Finocchiaro: Isolation and sub-chromosomal localization of a DNA fragment of the human choline acetyl-transferase gene. Neuroscience Letters 132:191-194 (1991)

M.Rocchi, N.Archidiacono, R.Carbone, A.Bolino, V.Shridhar, D.C.Ward, A.Baldini: Isolation of a human chromosome 22-specific alpha satellite clone. Cytog. Cell Genet. 58:2050-2051 (1991) 


R.M.Kotin, M.Siniscalco, R.J.Samulski, X.Zhu, L.Hunter, C.A.Laughlin, S.McLaughlin, N.Muzyczka, M.Rocchi, and K.I.Berns: Site specific integration by adeno-associated virus. P.N.A.S. 87:2211-2215 (1990)

S.Wei, M.Rocchi, N.Archidiacono, N.Sacchi, G.Romeo, R.Gatti: Physical mapping of chromoosme 11q23 region containing the ataxia-telangiectasia locus. Cancer Genet.Cytog. 46:1-8 (1990)

M.Rocchi, N.Archidiacono, A.Rinaldi, G. Filippi, G.Bartolucci, G.Fancello, and M.Siniscalco. Mental retardation in heterozygotes fragile-X mutation; evidence in favor of an X-inactivation-dependent effect. Am.J.Hum.Genet. 46:738-743 (1990)

J.M.Couvreur, T.Azuma, D.A.Miller, M.Rocchi, T.K.Mohandas, F.A.Boudi, R.T.Taggart. Cathepsin E: assignment to chromosome 1 by in situ hybridization and somatic cell hybrid analysis. Cytogenet.Cell Genet. 53:137-139 (1990)

A.Baldini, M.Rocchi, N. Archidiacono,O.J. Miller, D.A. Miller: A human alpha satellite DNA subset specific for chromosome 12. Am.J.Hum.Genet. 46:784-788 (1990)

G.K.Suthers, V.J.Hyland, D.F. Callen, I.Oberle, M.Rocchi M, N.S.Thomas, C.P.Morris, C.E.Schwartz, M.Schmidt, H.H.Ropers, E.Baker, B.A.Oostra, N.Dahl, P.J.Wilson, J.J.Hopwood, and G.R.Sutherland: Physical mapping of new DNA probes near the fragile X (FRAXA) with a panel of cell lines. Am.J.Hum.Genet. 47:187-195 (1990).

M.Rocchi, A.Baldini, N.Archidiacono, S.Lainwala, O.J.Miller, D.A.Miller: Chromosome-specific subset of human alphoid DNA identified by a chromosome 2-derived clone. Genomics 8:705-709 (1990).

E.Maestrini, S.Rivella, C.Tribioli, D.Purtilo, M.Rocchi, N.Archidiacono, and D.Toniolo: Probes for CpG islands on the distal long arm of the human X chromosome are clustered in Xq24 and Xq28. Genomics 8:664-670 (1990)