Lista de obras - Patrizia Tarugi - Dominio Público Uruguay

A 54-Year-Old Diabetic Man with Low Serum Cholesterol

artículo científico publicado en 2012

A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia

artículo científico publicado en 2013

A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a Caucasian kindred

artículo científico publicado en 2009

A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol

artículo científico publicado en 2007

A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia

artículo científico publicado en 2006

A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5)

artículo científico publicado en 2000

APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency

artículo científico publicado en 2006

Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia

artículo científico publicado en 2006

Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene

artículo científico publicado en 2002

Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia

artículo científico publicado en 2005

Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study

artículo científico publicado en 2003

Altered mRNA splicing in lipoprotein disorders

artículo científico publicado en 2011

Beta-thalassemia is a modifying factor of the clinical expression of familial hypercholesterolemia

artículo científico publicado en 2004

Biochemistry of lipids and lipoproteins

artículo científico publicado en 1990

Changes in apolipoprotein A-I mRNA level in the liver of rats with experimental nephrotic syndrome

artículo científico publicado en 1986

Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.

artículo científico publicado en 2011

Chemical and morphological changes of rat plasma lipoproteins after a prolonged administration of diets containing olive oil and cholesterol

artículo científico publicado en 1977

Cholesterol synthesis in freshly isolated human leukocytes

artículo científico publicado en 1977

Cholesterol synthesis in isolated rat hepatocytes. In vitro effect os sterols and bile acids

artículo científico publicado en 1979

Cholesterol synthesis in isolated rat hepatocytes: effect of homologous and heterologous serum lipoproteins

artículo científico publicado en 1979

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis

artículo científico publicado en 2013

Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes

artículo científico publicado en 2005

European Lipoprotein Club: Report of the 24th ELC Annual Conference, Tutzing, 10-13 September 2001.

artículo científico publicado en 2002

Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.

artículo científico publicado en 2004

Familial heterozygous hypobetalipoproteinemia, extrahepatic primary malignancy, and hepatocellular carcinoma

artículo científico publicado en 1998

Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene

artículo científico publicado en 2013

Fatty liver in heterozygous hypobetalipoproteinemia caused by a novel truncated form of apolipoprotein B

artículo científico publicado en 1996

Flow-mediated dilation, carotid wall thickness and HDL function in subjects with hyperalphalipoproteinemia.

artículo científico publicado en 2014

Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.

artículo científico publicado en 2008

Genetics and molecular biology: proprotein convertase subtilisin/kexin type 9 and LDL receptor – an intriguing story

artículo científico publicado en 2008

Heavy metals and experimental atherosclerosis Effect of lead intoxication on rabbit plasma lipoproteins

artículo científico publicado en 1982

Hipobetalipoproteinemia familiar: caracterización clínica de una nueva mutación en el gen de la apolipoproteína B

artículo científico publicado en 2009

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia

artículo científico publicado en 2008

Improvement in the high-performance liquid chromatography malondialdehyde level determination in normal human plasma ⬇️

artículo científico publicado el 25 de agosto de 1998

Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia

artículo científico publicado en 2004

Isoforms of rat apolipoprotein A-I isolated from the lipoproteins of hepatic golgi apparatus and plasma

artículo científico publicado en 1985

Isolation of a cDNA clone for chick intestinal apolipoprotein AI (Apo-AI) and its use for detecting apo-AI mRNA expression in several chick tissues.

artículo científico publicado en 1986

Lipid and Apoprotein Composition of HDL in Partial or Complete CETP Deficiency

article

Low-density lipoprotein (LDL) receptor/transferrin fusion protein: in vivo production and functional evaluation as a potential therapeutic tool for lowering plasma LDL cholesterol.

artículo científico publicado en 2004

Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage

artículo científico publicado en 2005

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk

artículo científico publicado en 2011

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations

artículo científico publicado en 2009

Molecular diagnosis of hypobetalipoproteinemia: an ENID review

artículo científico publicado en 2007

Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B

artículo científico publicado en 2009

Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia

artículo científico publicado en 2009

Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia

artículo científico publicado en 2012

Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia

artículo científico publicado en 2012

Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia

artículo científico publicado en 2008

PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia.

artículo científico publicado en 2009

Pediatric gallstone disease in familial hypobetalipoproteinemia.

artículo científico publicado en 2005

Plasma and urine lipoproteins during the development of nephrotic syndrome induced in the rat by adriamycin

artículo científico publicado en 1983

Plasma non-cholesterol sterols in primary hypobetalipoproteinemia

artículo científico publicado en 2011

Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia

artículo científico publicado en 2012

Pseudoxanthoma elasticum and familial hypercholesterolemia: a deleterious combination of cardiovascular risk factors

artículo científico publicado en 2009

Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency

artículo científico publicado en 2003

Separation of the isoprotein forms of apoprotein A-I of rat, rabbit and human HDL by combined isoelectrofocusing and SDS-polyacrylamide gel electrophoresis

artículo científico publicado en 1984

Sequential expression during postnatal development of specific markers of junctional and free sarcoplasmic reticulum in chicken pectoralis muscle

artículo científico publicado en 1992

The C-terminal domain of apolipoprotein A-I is involved in ABCA1-driven phospholipid and cholesterol efflux.

artículo científico publicado en 2002

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

artículo científico publicado en 1987

The protective effect on Cu2+- and AAPH-mediated oxidation of human low-density lipoproteins depends on glycosaminoglycan structure

artículo científico publicado en 1999

The wide spectrum of steatohepatitis: a report of four cases and a review of the literature.

artículo científico publicado en 2004

Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations

artículo científico publicado en 2008

Lista de obras de Patrizia Tarugi

A 54-Year-Old Diabetic Man with Low Serum Cholesterol

A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia

A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a Caucasian kindred

A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol

A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia

A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5)

APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency

Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia

Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene

Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia

Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study

Altered mRNA splicing in lipoprotein disorders

Beta-thalassemia is a modifying factor of the clinical expression of familial hypercholesterolemia

Biochemistry of lipids and lipoproteins

Changes in apolipoprotein A-I mRNA level in the liver of rats with experimental nephrotic syndrome

Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.

Chemical and morphological changes of rat plasma lipoproteins after a prolonged administration of diets containing olive oil and cholesterol

Cholesterol synthesis in freshly isolated human leukocytes

Cholesterol synthesis in isolated rat hepatocytes. In vitro effect os sterols and bile acids

Cholesterol synthesis in isolated rat hepatocytes: effect of homologous and heterologous serum lipoproteins

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis

Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes

European Lipoprotein Club: Report of the 24th ELC Annual Conference, Tutzing, 10-13 September 2001.

Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.

Familial heterozygous hypobetalipoproteinemia, extrahepatic primary malignancy, and hepatocellular carcinoma

Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene

Fatty liver in heterozygous hypobetalipoproteinemia caused by a novel truncated form of apolipoprotein B

Flow-mediated dilation, carotid wall thickness and HDL function in subjects with hyperalphalipoproteinemia.

Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.

Genetics and molecular biology: proprotein convertase subtilisin/kexin type 9 and LDL receptor – an intriguing story

Heavy metals and experimental atherosclerosis Effect of lead intoxication on rabbit plasma lipoproteins

Hipobetalipoproteinemia familiar: caracterización clínica de una nueva mutación en el gen de la apolipoproteína B

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia

Improvement in the high-performance liquid chromatography malondialdehyde level determination in normal human plasma ⬇️

Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia

Isoforms of rat apolipoprotein A-I isolated from the lipoproteins of hepatic golgi apparatus and plasma

Isolation of a cDNA clone for chick intestinal apolipoprotein AI (Apo-AI) and its use for detecting apo-AI mRNA expression in several chick tissues.

Lipid and Apoprotein Composition of HDL in Partial or Complete CETP Deficiency

Low-density lipoprotein (LDL) receptor/transferrin fusion protein: in vivo production and functional evaluation as a potential therapeutic tool for lowering plasma LDL cholesterol.

Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations

Molecular diagnosis of hypobetalipoproteinemia: an ENID review

Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B

Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia

Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia

Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia

Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia

PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia.

Pediatric gallstone disease in familial hypobetalipoproteinemia.

Plasma and urine lipoproteins during the development of nephrotic syndrome induced in the rat by adriamycin

Plasma non-cholesterol sterols in primary hypobetalipoproteinemia

Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia

Pseudoxanthoma elasticum and familial hypercholesterolemia: a deleterious combination of cardiovascular risk factors

Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency

Separation of the isoprotein forms of apoprotein A-I of rat, rabbit and human HDL by combined isoelectrofocusing and SDS-polyacrylamide gel electrophoresis

Sequential expression during postnatal development of specific markers of junctional and free sarcoplasmic reticulum in chicken pectoralis muscle

The C-terminal domain of apolipoprotein A-I is involved in ABCA1-driven phospholipid and cholesterol efflux.

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

The protective effect on Cu2+- and AAPH-mediated oxidation of human low-density lipoproteins depends on glycosaminoglycan structure

The wide spectrum of steatohepatitis: a report of four cases and a review of the literature.

Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations