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1. Maraschio, P; Danesino, C; Antoccia, A; Ricordy, R; Tanzarella, C; Varon, R; Reis, A; Besana, D; Guala, A; Tiepolo, L
   A novel mutation and novel features in Nijmegen breakage syndrome
   JOURNAL OF MEDICAL GENETICS
   
   P. Maraschio et al., "A novel mutation and novel features in Nijmegen breakage syndrome", J MED GENET, 38(2), 2001, pp. 113-117
2. Hiel, JA; Weemaes, CM; van den Heuvel, LP; van Engelen, BG; Gabreels, FJ; Smeets, DF; van der Burgt, I; Chrzanovska, KH; Bernatowska, E; Krajewska-Walasek, M; Bialecka, M; Abramczuk, D; Gregorek, H; Michalkiewicz, I; Perek, D; Midro, AT; Seemanova, E; Belohradsky, BH; Solder, B; Barbi, G; Wegner, RD; Sperling, K; Dixon, J; Maraschio, P; Marseglia, GL; Green, A; Taylor, AM; Der Kaloustian, VM; Komatsu, K; Matsuura, S; Conley, ME; Concannon, P; Gatti, RA
   Nijmegen breakage syndrome
   ARCHIVES OF DISEASE IN CHILDHOOD
   
   J.A. Hiel et al., "Nijmegen breakage syndrome", ARCH DIS CH, 82(5), 2000, pp. 400-406
3. Antoccia, A; Stumm, M; Saar, K; Ricordy, R; Maraschio, P; Tanzarella, C
   Impaired p53-mediated DNA damage response, cell-cycle disturbance and chromosome aberrations in Nijmegen breakage syndrome lymphoblastoid cell lines
   INTERNATIONAL JOURNAL OF RADIATION BIOLOGY
   
   A. Antoccia et al., "Impaired p53-mediated DNA damage response, cell-cycle disturbance and chromosome aberrations in Nijmegen breakage syndrome lymphoblastoid cell lines", INT J RAD B, 75(5), 1999, pp. 583-591
4. Seghezzi, L; Maraschio, P; Bozzola, M; Maserati, E; Tupler, R; Marchi, A; Tiepolo, L
   Ring chromosome 9 with a 9p22.3-p24.3 duplication
   EUROPEAN JOURNAL OF PEDIATRICS
   
   L. Seghezzi et al., "Ring chromosome 9 with a 9p22.3-p24.3 duplication", EUR J PED, 158(10), 1999, pp. 791-793
5. Bourc'his, D; Miniou, P; Jeanpierre, M; Gomes, DM; Dupont, JM; De Saint-Basile, G; Maraschio, P; Tiepolo, L; Viegas-Pequignot, E
   Abnormal methylation does not prevent X inactivation in ICF patients
   CYTOGENETICS AND CELL GENETICS
   
   D. Bourc'his et al., "Abnormal methylation does not prevent X inactivation in ICF patients", CYTOG C GEN, 84(3-4), 1999, pp. 245-252
6. Maserati, E; Verri, A; Seghezzi, L; Tupler, R; Federico, A; Tiepolo, L; Maraschio, P
   Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangement
   ANNALES DE GENETIQUE
   
   E. Maserati et al., "Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangement", ANN GENET, 42(4), 1999, pp. 210-214
7. TUPLER R; BARBIERATO L; SEWRY CA; FERLINI A; MARASCHIO P; TIEPOLO L
   IDENTICAL DE-NOVO MUTATION AT D4F104S1 LOCUS IN MONOZYGOTIC MALE TWINS AFFECTED BY FSHD WITH DIFFERENT CLINICAL EXPRESSION
   European journal of human genetics
   
   R. Tupler et al., "IDENTICAL DE-NOVO MUTATION AT D4F104S1 LOCUS IN MONOZYGOTIC MALE TWINS AFFECTED BY FSHD WITH DIFFERENT CLINICAL EXPRESSION", European journal of human genetics, 6, 1998, pp. 1103-1103
8. TUPLER R; BARBIERATO L; MEMMI M; SEWRY CA; DEGRANDIS D; MARASCHIO P; TIEPOLO L; FERLINI A
   IDENTICAL DE-NOVO MUTATION AT THE D4F104S1 LOCUS IN MONOZYGOTIC MALE TWINS AFFECTED BY FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) WITH DIFFERENT CLINICAL EXPRESSION
   Journal of Medical Genetics
   
   R. Tupler et al., "IDENTICAL DE-NOVO MUTATION AT THE D4F104S1 LOCUS IN MONOZYGOTIC MALE TWINS AFFECTED BY FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) WITH DIFFERENT CLINICAL EXPRESSION", Journal of Medical Genetics, 35(9), 1998, pp. 778-783
9. MARASCHIO P; MASERATI E; SEGHEZZI L; TUPLER R
   INVOLVEMENT OF 9Q22.1-31.3 REGION IN PYLORIC-STENOSIS
   Clinical genetics
   
   P. Maraschio et al., "INVOLVEMENT OF 9Q22.1-31.3 REGION IN PYLORIC-STENOSIS", Clinical genetics, 54(2), 1998, pp. 159-160
10. ANTOCCIA A; RICORDY R; MARASCHIO P; PRUDENTE S; TANZARELLA C
    CHROMOSOMAL SENSITIVITY TO CLASTOGENIC AGENTS AND CELL-CYCLE PERTURBATIONS IN NIJMEGEN BREAKAGE SYNDROME LYMPHOBLASTOID CELL-LINES
    International journal of radiation biology
    
    A. Antoccia et al., "CHROMOSOMAL SENSITIVITY TO CLASTOGENIC AGENTS AND CELL-CYCLE PERTURBATIONS IN NIJMEGEN BREAKAGE SYNDROME LYMPHOBLASTOID CELL-LINES", International journal of radiation biology, 71(1), 1997, pp. 41-49
11. TUPLER R; MARSEGLIA GL; STEFANINI M; PROSPERI E; CHESSA L; NARDO T; MARCHI A; MARASCHIO P
    A VARIANT OF THE NIJMEGEN BREAKAGE SYNDROME WITH UNUSUAL CYTOGENETIC FEATURES AND INTERMEDIATE CELLULAR RADIOSENSITIVITY
    Journal of Medical Genetics
    
    R. Tupler et al., "A VARIANT OF THE NIJMEGEN BREAKAGE SYNDROME WITH UNUSUAL CYTOGENETIC FEATURES AND INTERMEDIATE CELLULAR RADIOSENSITIVITY", Journal of Medical Genetics, 34(3), 1997, pp. 196-202
12. MARASCHIO P; TUPLER R; BARBIERATO L; DAINOTTI E; LARIZZA D; BERNARDI F; HOELLER H; GARAU A; TIEPOLO L
    AN ANALYSIS OF XQ DELETIONS
    Human genetics
    
    P. Maraschio et al., "AN ANALYSIS OF XQ DELETIONS", Human genetics, 97(3), 1996, pp. 375-381
13. MARASCHIO P; TUPLER R; ROSSI E; BARBIERATO L; UCCELLATORE F; ROCCHI M; ZUFFARDI O; FRACCARO M
    A NOVEL MECHANISM FOR THE ORIGIN OF SUPERNUMERARY MARKER CHROMOSOMES
    Human genetics
    
    P. Maraschio et al., "A NOVEL MECHANISM FOR THE ORIGIN OF SUPERNUMERARY MARKER CHROMOSOMES", Human genetics, 97(3), 1996, pp. 382-386
14. TUPLER R; PAGLIANO E; BARBIERATO L; LANZI G; MARASCHIO P; FAZZI E
    MILD PHENOTYPE ASSOCIATED WITH INV DUP-8 (Q21.2-Q22.3) OF MATERNAL ORIGIN
    American journal of medical genetics
    
    R. Tupler et al., "MILD PHENOTYPE ASSOCIATED WITH INV DUP-8 (Q21.2-Q22.3) OF MATERNAL ORIGIN", American journal of medical genetics, 62(2), 1996, pp. 160-163
15. TUPLER R; VOS I; ZANARDI C; PELLEGRINO MA; BOTTINELLI R; CANEPARI M; BERARDINELLI A; LANZI G; MARASCHIO P; BARBIERATO L; REGGIANI C
    CONTRACTILE PROPERTIES OF SINGLE MUSCLE-FIBERS ISOLATED FROM PATIENTSAFFECTED BY FSHD
    Journal of muscle research and cell motility
    
    R. Tupler et al., "CONTRACTILE PROPERTIES OF SINGLE MUSCLE-FIBERS ISOLATED FROM PATIENTSAFFECTED BY FSHD", Journal of muscle research and cell motility, 17(1), 1996, pp. 109-109
16. TUPLER R; BERARDINELLI A; BARBIERATO L; FRANTS R; HEWITT JE; LANZI G; MARASCHIO P; TIEPOLO L
    MONOSOMY OF DISTAL 4Q DOES NOT CAUSE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY
    Journal of Medical Genetics
    
    R. Tupler et al., "MONOSOMY OF DISTAL 4Q DOES NOT CAUSE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY", Journal of Medical Genetics, 33(5), 1996, pp. 366-370
17. TUPLER R; BARBIERATO L; LARIZZA D; SAMPAOLO P; PIOVELLA F; MARASCHIO P
    BALANCED AUTOSOMAL TRANSLOCATIONS AND OVARIAN DYSGENESIS
    Human genetics
    
    R. Tupler et al., "BALANCED AUTOSOMAL TRANSLOCATIONS AND OVARIAN DYSGENESIS", Human genetics, 94(2), 1994, pp. 171-176
18. MARASCHIO P; TUPLER R; DAINOTTI E; CORTINOVIS M; TIEPOLO L
    MOLECULAR ANALYSIS OF A HUMAN-Y 1-TRANSLOCATION IN AN AZOOSPERMIC MALE
    Cytogenetics and cell genetics
    
    P. Maraschio et al., "MOLECULAR ANALYSIS OF A HUMAN-Y 1-TRANSLOCATION IN AN AZOOSPERMIC MALE", Cytogenetics and cell genetics, 65(4), 1994, pp. 256-260
19. TUPLER R; HOELLER A; PEZZOLO A; MARASCHIO P
    MATERNAL DERIVATION OF INV-DUP(22) AND CLINICAL VARIATION IN CAT-EYE-SYNDROME
    Annales de genetique
    
    R. Tupler et al., "MATERNAL DERIVATION OF INV-DUP(22) AND CLINICAL VARIATION IN CAT-EYE-SYNDROME", Annales de genetique, 37(3), 1994, pp. 153-155
20. MINELLI A; FLORIDIA G; ROSSI E; CLEMENTI M; TENCONI R; CAMURRI L; BERNARDI F; HOELLER H; RE CP; MARASCHIO P; WOOD S; ZUFFARDI O; DANESINO C
    D8S7 IS CONSISTENTLY DELETED IN INVERTED DUPLICATIONS OF THE SHORT ARM OF CHROMOSOME-8 (INV DUP 8P)
    Human genetics
    
    A. Minelli et al., "D8S7 IS CONSISTENTLY DELETED IN INVERTED DUPLICATIONS OF THE SHORT ARM OF CHROMOSOME-8 (INV DUP 8P)", Human genetics, 92(4), 1993, pp. 391-396
21. LARIZZA D; MARASCHIO P; MAGHNIE M; SAMPAOLO P
    HYPOGONADISM IN A PATIENT WITH BALANCED X 18 TRANSLOCATION AND PITUITARY-HORMONE DEFICIENCY/
    European journal of pediatrics
    
    D. Larizza et al., "HYPOGONADISM IN A PATIENT WITH BALANCED X 18 TRANSLOCATION AND PITUITARY-HORMONE DEFICIENCY/", European journal of pediatrics, 152(5), 1993, pp. 424-427
22. MARASCHIO P; PEZZOLO A; BRANDI ML; CORTINOVIS M; DAINOTTI E; SCAPPATICCI S; FRACCARO M
    CYTOGENETICS OF MULTIPLE ENDOCRINE NEOPLASIA SYNDROMES .3. ANALYSIS OF AN INSULINOMA FROM A SUBJECT WITH MEN-1 BY CHROMOSOME PAINTING
    Cancer genetics and cytogenetics
    
    P. Maraschio et al., "CYTOGENETICS OF MULTIPLE ENDOCRINE NEOPLASIA SYNDROMES .3. ANALYSIS OF AN INSULINOMA FROM A SUBJECT WITH MEN-1 BY CHROMOSOME PAINTING", Cancer genetics and cytogenetics, 70(1), 1993, pp. 68-70