R. de Franchis

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Cystathionine β‐synthase mutations in homocystinuria

R. Gordon, H. Blom, G. Boers, 1999 .

Cystathionine beta-synthase mutations in homocystinuria.

R. Gordon, H. Blom, G. Boers, 1999, Human mutation.

Elevated total plasma homocysteine and 677C-->T mutation of the 5,10-methylenetetrahydrofolate reductase gene in thrombotic vascular disease.

M. Margaglione, G. Andria, I. Fermo, 1996, American journal of human genetics.

The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

M. P. Sperandeo, G. Andria, M. Panico, 1995, American journal of human genetics.

Phenobarbitone increases rat-liver gamma-glutamyl transpeptidase.

E. del Ninno, R. de Franchis, N. Dioguardi, 1971, Lancet.

The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms.

W. Ansorge, Č. Vlček, D. Patterson, 1998, Genomics.

Increased expression of endothelin in bronchial epithelial cells of asthmatic patients and effect of corticosteroids.

R. Franchis, S. Mattoli, R. de Franchis, 1992, The American review of respiratory disease.

The Effect of Weaning with Adult Food Typical of the Mediterranean Diet on Taste Development and Eating Habits of Children: A Randomized Trial

F. De Filippis, D. Ercolini, G. Vitiello, 2022, Nutrients.

Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.

G. Boers, J. Kraus, V. Kožich, 1995, Human molecular genetics.

A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA.

M. P. Sperandeo, G. Andria, G. Sebastio, 1996, American journal of human genetics.

Role of synovectomy in hemophilic arthropathy.

P. Mannucci, R. de Franchis, G. Torri, 1977, Israel journal of medical sciences.

A simple technique for the estimation of mitochondrial glutamate-oxaloacetate transaminase in serum and tissues.

G. Fiorelli, E. del Ninno, R. de Franchis, 1970, Journal of chromatography.

Serum Cytosolic/Mitochondrial Enzyme Ratio: A Tool for the Estimation of the Severity of Acute Hepatitis

S. Sforzini, G. Idéo, R. de Franchis, 1972, Zeitschrift fur klinische Chemie und klinische Biochemie.

A potent inhibitor of Taq polymerase copurifies with human genomic DNA.

N. Cross, N. Foulkes, T. Cox, 1988, Nucleic acids research.

Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

N. Cross, G. Andria, P. Strisciuglio, 1991, Journal of medical genetics.

Four novel mutations in the cystathionine β‐synthase gene: Effect of a second linked mutation on the severity of the homocystinuric phenotype

J. Kraus, V. Kožich, G. Sebastio, 1999, Human mutation.

Folate pathway gene alterations in patients with neural tube defects.

R. Finnell, E. Merello, V. Capra, 2000, American journal of medical genetics.

Behaviour of some enzymes and isoenzymes in plasma liver and bile of rats treated with carbon tetrachloride.

E. del Ninno, R. de Franchis, G. Idéo, 1971, Enzyme.

Increase of some rat liver microsomal enzymes as a consequence of prolonged alcohol intake: comparison with the effect of phenobarbitone.

E. del Ninno, R. de Franchis, N. Dioguardi, 1971, Enzyme.

Clinical Improvement of Subacute and Chronic Otitis Media With Effusion Treated With Hyaluronic Acid Plus Hypertonic Solution via Nasal Lavage: A Randomized Controlled Trial

M. Sandomenico, G. Aloi, D. del Gaizo, 2017, Global pediatric health.

Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.

D. Valle, M. Marble, J. Kraus, 1994, Human molecular genetics.

Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.

R. Mcinnes, J. Kraus, V. Kožich, 1994, Human molecular genetics.

Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.

G. Andria, G. Sebastio, R. de Franchis, 1998, European journal of pediatrics.

Clinical aspects of cystathionine β-synthase deficiency: how wide is the spectrum?

G. Andria, G. Sebastio, R. de Franchis, 1998, European Journal of Pediatrics.

The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.

M. P. Sperandeo, V. Capra, P. Mastroiacovo, 1998, Journal of medical genetics.

Induction of liver U.D.P.G.T. by ethanol.

E. del Ninno, R. de Franchis, N. Dioguardi, 1970, Lancet.

Contribution of the Cystathionine β-Synthase Gene (844ins68) Polymorphism to the Risk of Early-onset Venous and Arterial Occlusive Disease and of Fasting Hyperhomocysteinemia

G. Andria, I. Fermo, G. Di Minno, 2000, Thrombosis and Haemostasis.

Molecular defect in a patient with pyridoxine-responsive homocystinuria.

J. Kraus, V. Kožich, R. de Franchis, 1993, Human molecular genetics.

The Immune Response to SARS-CoV-2 Vaccine in a Cohort of Family Pediatricians from Southern Italy

S. Esposito, G. Castaldo, G. Cernera, 2023, Cells.

Fasting, postprandial, and post-methionine-load homocysteinaemia and methylenetetrahydrofolate reductase polymorphism in vascular disease

M. Candito, P. Gibelin, R. de Franchis, 1999, Journal of Inherited Metabolic Disease.