Giuseppe Zampino

发表

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Michael A. Patton, Han G. Brunner, Andrew H. Crosby, 2001, Nature Genetics.

Mutation in SHOC2 promotes aberrant protein N-myristoylation and underlies Noonan-like syndrome with loose anagen hair

Ravi Iyengar, Avi Ma'ayan, Wendy Schackwitz, 2009, Nature Genetics.

Recognizable facial features in patients with alternating hemiplegia of childhood

G. Neri, G. Zampino, F. Tiziano, 2016, American journal of medical genetics. Part A.

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Ravi Iyengar, Avi Ma’ayan, Wendy Schackwitz, 2009 .

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Gabriele Gillessen-Kaesbach, Maria Kousi, Alessandro Bruselles, 2015, American journal of human genetics.

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Michael J Ackerman, Wendy Schackwitz, Claudio Carta, 2007, Nature Genetics.

Erratum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome (Nature Genetics DOI: 10.1038/ng1939)

Cynthia J. R. Curry, Wendy Schackwitz, Len A. Pennacchio, 2007 .

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Wendy Schackwitz, Claudio Carta, Bruno Dallapiccola, 2006, Nature Genetics.

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

Monia Magliozzi, Bruno Dallapiccola, Alessandro Sartorio, 2017, Human mutation.

Significant Modifications of the Salivary Proteome Potentially Associated with Complications of Down Syndrome Revealed by Top-down Proteomics*

Massimo Castagnola, Irene Messana, Tiziana Cabras, 2013, Molecular & Cellular Proteomics.

Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome

Claudio Carta, Rosanna Weksberg, Bruno Dallapiccola, 2007, Human mutation.