M. P. Sperandeo

发表

Multiple common variants for celiac disease influencing immune gene expression

P. Deloukas, R. Ophoff, L. Peltonen, 2010, Nature Genetics.

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.

Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.

G. Borsani, A. Ballabio, G. Corso, 2007, American journal of physiology. Cell physiology.

Widening of a YChromosome lnterval-6 Deletion Transmitted from a uFatherto 1 * binfertile Son Accounts for an Critical Region Distal to the RBM 1 and DA Genes

M. P. Sperandeo, G. Andria, G. Sebastio, 2007 .

Corrigendum: Multiple common variants for celiac disease influencing immune gene expression

P. Deloukas, R. Ophoff, L. Peltonen, 2010, Nature Genetics.

Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene

M. P. Sperandeo, G. Andria, G. Sebastio, 2008, Human mutation.

A y+LAT-1 mutant protein interferes with y+LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance

M. P. Sperandeo, L. Maiuri, C. Zurzolo, 2005, European Journal of Human Genetics.

Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene

M. P. Sperandeo, G. Andria, G. Sebastio, 2005, Human mutation.

Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects.

M. P. Sperandeo, G. Andria, B. Rotoli, 2000, American journal of physiology. Cell physiology.

Lysinuric protein intolerance: Reviewing concepts on a multisystem disease

M. P. Sperandeo, G. Andria, G. Sebastio, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

Improving the Estimation of Celiac Disease Sibling Risk by Non-HLA Genes

M. P. Sperandeo, L. Greco, S. Cocozza, 2011, PloS one.

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 .

Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease

M. P. Sperandeo, M. Palacín, A. Zorzano, 2019, International journal of molecular sciences.

Potential Celiac Patients: A Model of Celiac Disease Pathogenesis

G. Trynka, J. Romanos, M. P. Sperandeo, 2011, PloS one.

Gene Expression Profile of Peripheral Blood Monocytes: A Step towards the Molecular Diagnosis of Celiac Disease?

M. P. Sperandeo, L. Greco, V. Izzo, 2013, PloS one.

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.

Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report

M. P. Sperandeo, J. Mykkänen, G. Andria, 1999, Prenatal Diagnosis.

Genetic homogeneity of lysinuric protein intolerance

O. Simell, P. Gasparini, M. P. Sperandeo, 1998, European Journal of Human Genetics.

How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene?

M. P. Sperandeo, G. Andria, I. Scala, 2003, American journal of medical genetics. Part A.

Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature

S. Bernasconi, M. P. Sperandeo, L. Garavelli, 2009, American journal of medical genetics. Part A.

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.

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.

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.

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.

M. P. Sperandeo, G. Andria, P. Chiurazzi, 1999, American journal of medical genetics.

Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionineβ-synthase mutations

M. P. Sperandeo, C. Turc‐Carel, M. Rolland, 1996, Journal of Inherited Metabolic Disease.

Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene

M. P. Sperandeo, G. Andria, L. Titomanlio, 2004, Clinical genetics.