Cesare Danesino

发表

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects.

J. Korenberg, G. Gimelli, M. Digilio, 2000, Circulation.

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.

Novel Munc13–4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis

L. Notarangelo, F. Dieli, L. Moretta, 2006, Journal of Medical Genetics.

Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene.

R. Clementi, D. Haber, K. Nichols, 2001, Blood.

Twenty‐five novel mutations including duplications in the ATP7A gene

S. Blesson, C. Moraine, E. Bieth, 2011, Clinical genetics.

Management and treatment of glycogenosis type II

B. Bembi, L. Morandi, G. Parenti, 2008, Neurology.

Enzyme replacement therapy in adult‐onset glycogenosis II: Is quantitative muscle MRI helpful?

A. Pichiecchio, M. Ponzio, E. Tavazzi, 2009, Muscle & nerve.

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.

Isochromosome (7)(q10) in Shwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders.

C. Olivieri, C. Danesino, F. Pasquali, 2000, Cancer genetics and cytogenetics.

Agenesis of the corpus callosum with mosaicism 46,XY/47,XY, extra ring chromosome.

F. Bernardi, B. Bernardina, G. Zamboni, 1980, Journal of medical genetics.

Breast cancer and genetics.

C. Danesino, L. Boeri, C. Canzonieri, 2011, Journal of ultrasound.

Genetic heterogeneity for a Nijmegen breakage‐like syndrome

I. Demuth, A. di Masi, A. Antoccia, 2003, Clinical genetics.