M. Riboni

发表

Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.

X. Estivill, G. Borsani, A. Ballabio, 2001, Human molecular genetics.

Dietary intake of cyanidin-3-glucoside induces a long-lasting cardioprotection from ischemia/reperfusion injury by altering the microbiota.

M. Fornari, C. Tonelli, K. Petroni, 2021, The Journal of nutritional biochemistry.

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

J. Benítez, Å. Borg, R. Schmutzler, 2017, Genetics in Medicine.

Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system xc–

G. Borsani, M. Manzoni, M. Palacín, 2001, Pflügers Archiv.

Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane.

G. Borsani, A. Ballabio, M. Manzoni, 2000, The Biochemical journal.

The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers

P. Radice, P. Peterlongo, S. Manoukian, 2011, Breast Cancer Research and Treatment.

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

X. Estivill, D. Torrents, G. Borsani, 1999, Nature Genetics.

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats.

G. Borsani, A. Ballabio, P. Beighton, 1999, American journal of human genetics.

SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

G. Borsani, A. Ballabio, A. Grandi, 1999, Nature Genetics.

SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family.

G. Borsani, A. Ballabio, M. P. Sperandeo, 1999, Genomics.

is mutated in patients with lysinuric protein intolerance

G. Borsani, A. Ballabio, A. Grandi, 1999 .

Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family.

A Ballabio, G. Borsani, A. Ballabio, 2004, Genomics.

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.

G. Borsani, A. Ballabio, M. P. Sperandeo, 2000, American journal of human genetics.

Genomic characterization of asymptomatic CT-detected lung cancers

E. Venturini, G. Pelosi, G. Veronesi, 2011, Oncogene.

PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer

P. Radice, P. Peterlongo, S. Manoukian, 2011, Breast Cancer Research and Treatment.