M. Patrosso

发表

ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations

A. Ciccodicola, F. Gianfrancesco, T. Esposito, 2008, Neuroscience.

Idiopathic recurrent acute pericarditis: familial Mediterranean fever mutations and disease evolution in a large cohort of Caucasian patients

Y. Shoenfeld, A. Doria, A. Moreo, 2005, Lupus.

X–linked thrombocytopenia and Wiskott–Aldrich syndrome are allelic diseases with mutations in the WASP gene

L. Notarangelo, P. Macchi, A. Villa, 1995, Nature Genetics.

Bilateral carcinoma in situ of the testis and cystic fibrosis transmembrane conductance regulator (CFTR) mutation in an azoospermic patient with late-onset 21β-hydroxylase deficiency

F. Minuto, M. Giusti, S. Penco, 2004, Journal of endocrinological investigation.

The exon-intron organization of the human X-linked gene (FLN1) encoding actin-binding protein 280.

E. Maestrini, L. Milanesi, A. Villa, 1994, Genomics.

Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis.

F. Salvi, D. De Grandis, A. Ferlini, 1998, American journal of medical genetics.

Electromyographic findings in transthyretin (TTR)-related familial amyloid polyneuropathy (FAP).

F. Salvi, A. Ferlini, P. Montagna, 1996, Electroencephalography and clinical neurophysiology.

Molecular strategies in genetic diagnosis of transthyretin‐related hereditary amyloidosis

F. Salvi, A. Ferlini, P. Vezzoni, 1992, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Fidelity of a YAC clone in the region of human MCF-2 gene.

A. Villa, P. Vezzoni, A. Frattini, 1991, Biochemical and biophysical research communications.

X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family

A. Ferlini, D. Guidetti, M. Patrosso, 1996, Journal of the Neurological Sciences.

Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management

L. Tassi, G. Tredici, S. Bacigaluppi, 2013, Clinical Genetics.

C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by Hyper IgM syndrome

A. Villa, S. Giliani, P. Macchi, 1994, Human mutation.

Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders.

A. Ferlini, D. Guidetti, P. Vezzoni, 1995, American journal of medical genetics.

Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28.

A. Villa, P. Vezzoni, I. Zucchi, 1994, Genomics.