M. Piantanida

发表

Prenatal diagnosis of metabolic diseases on chorionic villi obtained before the ninth week of pregnancy

B. Brambati, G. Simoni, C. Danesino, 1992, Prenatal diagnosis.

Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2.

E. Buscarini, L. Buscarini, C. Danesino, 1996, Journal of medical genetics.

The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications.

G. Gimelli, G. Floridia, O. Zuffardi, 1996, American journal of human genetics.

The breakpoints of a constitutional inversion of chromosome 9 associated with haemophagocytic lymphohistiocytosis are not linked to the disease gene

R. Clementi, H. Hasle, N. Santoro, 1999, British journal of haematology.

Gene dosage effect in acquired monosomy 7: Distinct behaviour of β‐glucuronidase and phosphoserine phosphatase

E. Campagnoli, C. Danesino, F. Pasquali, 1990, Genes, chromosomes & cancer.

Cerebro-reno-digital syndrome in two sibs.

A. Plebani, C. Danesino, A. Tiberti, 1993, American journal of medical genetics.

Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl

G. Camerino, B. Bardoni, F. Crosato, 1989, Human Genetics.

Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?

G. Floridia, S. Giglio, O. Zuffardi, 1997, Human Genetics.

A homozygous missense arginine to histidine substitution at position 482 of the β-galactosidase in an Italian infantile GM1-gangliosidosis patient

S. Brocca, E. Gianazza, C. Danesino, 1992, Human Genetics.

Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation

R. Tupler, O. Zuffardi, H. Rivera, 1990, Human Genetics.

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

R. Tupler, L. Tiepolo, P. Maraschio, 1989, Journal of medical genetics.

Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: imaging findings.

E. Buscarini, L. Buscarini, G. Civardi, 1994, AJR. American journal of roentgenology.

Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: Doppler sonographic screening in a large family.

S. Rossi, M. Di Stasi, E. Buscarini, 1997, Journal of hepatology.

Cyclophosphamide increases the frequency of sister chromatid exchange in direct preparations of human chorionic villi in the absence of supplementary enzymatic activation systems.

G. Simoni, M. Piantanida, M. Buscaglia, 1992, Journal of medical genetics.