Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.

Por Maraschio, P, Zuffardi, O, Dalla Fior, T, Tiepolo, L
Publicado em 1988

Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts.

Por Maraschio, P, Tupler, R, Dainotti, E, Piantanida, M, Cazzola, G, Tiepolo, L
Publicado em 1989

A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1.

Por Tupler, R, Maraschio, P, Gerardo, A, Mainieri, R, Lanzi, G, Tiepolo, L
Publicado em 1992

Additional G-like chromosome in a malformed boy.

Por Fraccaro, M, Hultén, M, Jayakar, S D, Lindsjö, A, Lindsten, J, Tiepolo, L
Publicado em 1971

Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome

Por Chrzanowska, K, Bekiesinska-Figat..., M, Jozwiak, S, Maraschio, P, Danesino, C, Varon, R, Tiepolo, L
Publicado em 2002

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.

Por Tupler, R, Berardinelli, A, Barbierato, L, Frants, R, Hewitt, J E, Lanzi, G, Maraschio, P, Tiepolo, L
Publicado em 1996

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

Por Tupler, R, Barbierato, L, Memmi, M, Sewry, C A, De Grandis, D, Maraschio, P, Tiepolo, L, Ferlini, A
Publicado em 1998

A novel mutation and novel features in Nijmegen breakage syndrome

Por MARASCHIO, P, DANESINO, C, ANTOCCIA, A, RICORDY, R, TANZARELLA, C, VARON, R, REIS, A, BESANA, D, GUALA, A, TIEPOLO, L
Publicado em 2001