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Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene
Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene
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Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene

Rabacchi, Claudio, PhD ; D'Addato, Sergio, MD ; Palmisano, Silvia, MD ; Lucchi, Tiziano, MD ; Bertolini, Stefano, MD ; Calandra, Sebastiano, MD ; Tarugi, Patrizia, PhD

Journal of clinical lipidology, 2016-07, Vol.10 (4), p.915-921.e4 [Periódico revisado por pares]

United States: Elsevier Inc

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2
The Type of LDLR Gene Mutation Predicts Cardiovascular Risk in Children with Familial Hypercholesterolemia
The Type of LDLR Gene Mutation Predicts Cardiovascular Risk in Children with Familial Hypercholesterolemia
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The Type of LDLR Gene Mutation Predicts Cardiovascular Risk in Children with Familial Hypercholesterolemia

Guardamagna, Ornella, MD ; Restagno, Gabriella, MD ; Rolfo, Elio, MD ; Pederiva, Cristina, MD ; Martini, Scipione, MD ; Abello, Francesca, MD ; Baracco, Viviana, MD ; Pisciotta, Livia, MD ; Pino, Elisabetta, MD ; Calandra, Sebastiano, MD ; Bertolini, Stefano, MD

The Journal of pediatrics, 2009-08, Vol.155 (2), p.199-204.e2 [Periódico revisado por pares]

Maryland Heights, MO: Mosby, Inc

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3
A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene
A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene
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A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene

Buonuomo, Paola Sabrina, MD ; Bartuli, Andrea, MD ; Rabacchi, Claudio, PhD ; Bertolini, Stefano, MD ; Calandra, Sebastiano, MD

Journal of clinical lipidology, 2015-03, Vol.9 (2), p.265-270 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis
Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis
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Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis

Ariza, María José, PhD ; Martínez-Hernández, Pedro Luis, MD, PhD ; Ibarretxe, Daiana, MD ; Rabacchi, Claudio, PhD ; Rioja, José, PhD ; Grande-Aragón, Cristina, PhD ; Plana, Nuria, MD, PhD ; Tarugi, Patrizia, PhD ; Olivecrona, Gunilla, PhD ; Calandra, Sebastiano, MD ; Valdivielso, Pedro, MD, PhD

Journal of clinical lipidology, 2016, Vol.10 (1), p.92-100.e1 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations
Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations
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Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations

Rabacchi, Claudio, PhD ; Bigazzi, Federico, PhD ; Puntoni, Mariarita, PhD ; Sbrana, Francesco, MD ; Sampietro, Tiziana, MD ; Tarugi, Patrizia, PhD ; Bertolini, Stefano, MD ; Calandra, Sebastiano, MD

Journal of clinical lipidology, 2016-07, Vol.10 (4), p.944-952.e1 [Periódico revisado por pares]

United States: Elsevier Inc

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6
A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla )
A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla )
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A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla )

Pisciotta, Livia, MD ; Vitali, Cecilia, PhD ; Favari, Elda, PhD ; Fossa, Paola, PhD ; Adorni, Maria Pia, PhD ; Leone, Daniela, PhD ; Artom, Nathan, MD ; Fresa, Raffaele, LabTech ; Calabresi, Laura, PhD ; Calandra, Sebastiano, MD ; Bertolini, Stefano, MD

Journal of clinical lipidology, 2015-11, Vol.9 (6), p.837-846 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Effect of the desulfation of heparin on its anticoagulant and anti-proliferative activity
Effect of the desulfation of heparin on its anticoagulant and anti-proliferative activity
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Effect of the desulfation of heparin on its anticoagulant and anti-proliferative activity

Tiozzo, Roberta ; Cingi, Maria Rita ; Reggiani, Daniela ; Andreoli, Tiziana ; Calandra, Sebastiano ; Milani, Maria Rita ; Piani, Silvano ; Marchi, Egidio ; Barbanti, Miriam

Thrombosis research, 1993-04, Vol.70 (1), p.99-106 [Periódico revisado por pares]

New York, NY: Elsevier Ltd

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8
Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis
Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis
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Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis

Garuti, R ; Croce, M A ; Tiozzo, R ; Dotti, M T ; Federico, A ; Bertolini, S ; Calandra, S

Journal of lipid research, 1997-11, Vol.38 (11), p.2322-2334 [Periódico revisado por pares]

United States: Elsevier

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9
The complete sequence of chick apolipoprotein AI mRNA and its expression in the developing chick
The complete sequence of chick apolipoprotein AI mRNA and its expression in the developing chick
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The complete sequence of chick apolipoprotein AI mRNA and its expression in the developing chick

Ferrari, Stefano ; Tarugi, Patrizia ; Drusiani, Enoe ; Calandra, Sebastiano ; Fregni, Marina

Gene, 1987, Vol.60 (1), p.39-46 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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10
Preemptive liver transplantation in a child with familial hypercholesterolemia
Preemptive liver transplantation in a child with familial hypercholesterolemia
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Preemptive liver transplantation in a child with familial hypercholesterolemia

Maiorana, Arianna ; Nobili, Valerio ; Calandra, Sebastiano ; Francalanci, Paola ; Bernabei, Silvia ; El Hachem, Maya ; Monti, Lidia ; Gennari, Fabrizio ; Torre, Giuliano ; de Ville de Goyet, Jean ; Bartuli, Andrea

Pediatric transplantation, 2011-03, Vol.15 (2), p.E25-E29 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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