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1

Molecular diagnosis of hypobetalipoproteinemia: An ENID review

Patrizia Tarugi, Maurizio Averna, Enza Di Leo, Angelo B. Cefalù, Davide Noto, Lucia Magnolo, Luigi Cattin, Stefano Bertolini, Sebastiano Calandra

Journal:

Atherosclerosis

Year:

2007

Language:

english

File:

PDF, 140 KB

english, 2007

2

The wide spectrum of steatohepatitis

Lonardo, Amedeo, Bagni, Alberto, Tarugi, Patrizia, Loria, Paola

Journal:

European Journal of Gastroenterology & Hepatology

Year:

2004

Language:

english

File:

PDF, 615 KB

english, 2004

3

Impact of rare variants in autosomal dominant hypercholesterolemia causing genes

Calandra, Sebastiano, Tarugi, Patrizia, Bertolini, Stefano

Journal:

Current Opinion in Lipidology

Year:

2017

Language:

english

File:

PDF, 236 KB

english, 2017

4

Clinical and biochemical characteristics of individuals with low cholesterol syndromes: a comparison between Familial Hypobetalipoproteinemia (FHBL1) and Familial combined hypolipidemia (FHBL2)

Di Costanzo, Alessia, Di Leo, Enza, Noto, Davide, Cefalù, Angelo Baldassare, Minicocci, Ilenia, Polito, Luca, D’Erasmo, Laura, Cantisani, Vito, Spina, Rossella, Tarugi, Patrizia, Averna, Maurizio, Arc

Journal:

Journal of Clinical Lipidology

Year:

2017

Language:

english

File:

PDF, 1.82 MB

english, 2017

5

In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia

Rabacchi, Claudio, Simone, Maria Luisa, Pisciotta, Livia, Di Leo, Enza, Bocchi, Davide, Pietrangelo, Antonello, D'Addato, Sergio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia

Journal:

Journal of Clinical Lipidology

Year:

2019

Language:

english

File:

PDF, 1.53 MB

english, 2019

6

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

Journal:

Year:

1987

Language:

english

File:

PDF, 716 KB

english, 1987

7

Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B

Yilmaz, Berna Seker, Mungan, Neslihan Onenli, Di Leo, Enza, Magnolo, Lucia, Artuso, Lucia, Bernardis, Isabella, Tumgor, Gokhan, Kor, Deniz, Tarugi, Patrizia

Journal:

Clinica Chimica Acta

Year:

2016

Language:

english

File:

PDF, 419 KB

english, 2016

8

Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride

Buonuomo, Paola Sabrina, Rabacchi, Claudio, Macchiaiolo, Marina, Trenti, Chiara, Fasano, Tommaso, Tarugi, Patrizia, Bartuli, Andrea, Bertolini, Stefano, Calandra, Sebastiano

Journal:

Journal of Clinical Lipidology

Year:

2017

Language:

english

File:

PDF, 469 KB

english, 2017

9

Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features

Bertolini, Stefano, Calandra, Sebastiano, Arca, Marcello, Averna, Maurizio, Catapano, Alberico L., Tarugi, Patrizia, Bartuli, Andrea, Bucci, Marco, Buonuomo, Paola Sabrina, CalabrÃ², Paolo, Casula, Ma

Journal:

Atherosclerosis

Year:

2020

File:

PDF, 244 KB

2020

10

ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)

Dealba Gheduzzi, Rita Guidetti, Claudia Anzivino, Patrizia Tarugi, Enza Di Leo, Daniela Quaglino, Ivonne Pasquali Ronchetti

Journal:

Year:

2004

Language:

english

File:

PDF, 180 KB

english, 2004

11

A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease

Enza Di Leo, Francesca Panico, Patrizia Tarugi, Carla Battisti, Antonio Federico, Sebastiano Calandra

Journal:

Year:

2004

Language:

english

File:

PDF, 406 KB

english, 2004

12

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

Nicola Volpi, Patrizia Tarugi

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Year:

1998

Language:

english

File:

PDF, 98 KB

english, 1998

13

Molecular analysis ofNPC1andNPC2gene in 34 Niemann–Pick C Italian Patients: identification and structural modeling of novel mutations

Tatiana Fancello, Andrea Dardis, Camillo Rosano, Patrizia Tarugi, Barbara Tappino, Stefania Zampieri, Elisa Pinotti, Fabio Corsolini, Simona Fecarotta, Adele D’Amico, Maja Di Rocco, Graziella Uziel, S

Journal:

Year:

2009

Language:

english

File:

PDF, 1.02 MB

english, 2009

14

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

Ernesto Damiani, Patrizia Tarugi, Sebastiano Calandra, Alfredo Margreth

Journal:

Developmental Biology

Year:

1992

Language:

english

File:

PDF, 6.82 MB

english, 1992

15

Hypobetalipoproteinemia with an apparently recessive inheritance due to a “de novo” mutation of apolipoprotein B

Sandra Lancellotti, Enza Di Leo, Junia Y. Penacchioni, Fiorella Balli, Laura Viola, Stefano Bertolini, Sebastiano Calandra, Patrizia Tarugi

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2004

Language:

english

File:

PDF, 362 KB

english, 2004

16

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia

Mohamed Najah, Enza Di Leo, Jelassi Awatef, Lucia Magnolo, Jgurim Imene, Elisa Pinotti, Mahjoub Bahri, Sihem Barsaoui, Ines Brini, Moncef Fekih, Mohamed Naceur Slimane, Patrizia Tarugi

Journal:

Clinica Chimica Acta

Year:

2009

Language:

english

File:

PDF, 440 KB

english, 2009

17

Pediatric gallstone disease in familial hypobetalipoproteinemia

Sandra Lancellotti, Marco Zaffanello, Enza Di Leo, Lorenzo Costa, Amedeo Lonardo, Patrizia Tarugi

Journal:

Journal of Hepatology

Year:

2005

Language:

english

File:

PDF, 156 KB

english, 2005

18

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

Pedro Iglesias, Juan J. Díez, Patrizia Tarugi

Journal:

Medicina Clínica

Year:

2009

File:

PDF, 196 KB

2009

19

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

Enza Di Leo, Lucia Magnolo, Elisa Pinotti, Scipione Martini, Irene Cortella, Nicola Vitturi, Claudio Rabacchi, Alessia Wunsch, Francesco Pucci, Stefano Bertolini, Sebastiano Calandra, Patrizia Tarugi

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 463 KB

english, 2009

20

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

Elda Favari, Franco Bernini, Patrizia Tarugi, Guido Franceschini, Laura Calabresi

Journal:

Biochemical and Biophysical Research Communications

Year:

2002

Language:

english

File:

PDF, 150 KB

english, 2002

21

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

Nicola Volpi, Patrizia Tarugi

Journal:

Year:

1999

Language:

english

File:

PDF, 756 KB

english, 1999

22

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

Livia Pisciotta, Ian Hamilton-Craig, Patrizia Tarugi, Antonella Bellocchio, Tommaso Fasano, Paola Alessandrini, Gabriele Bittolo Bon, Donatella Siepi, Elmo Mannarino, Luigi Cattin, Maurizio Averna, An

Journal:

Atherosclerosis

Year:

2004

Language:

english

File:

PDF, 388 KB

english, 2004

23

Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia

Enza Di Leo, Sandra Lancellotti, Junia Y. Penacchioni, Angelo B. Cefalù, Maurizio Averna, L. Pisciotta, Stefano Bertolini, Sebastiano Calandra, Carlo Gabelli, Patrizia Tarugi

Journal:

Atherosclerosis

Year:

2005

Language:

english

File:

PDF, 212 KB

english, 2005

24

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

Livia Pisciotta, Laura Calabresi, Graziana Lupattelli, Donatella Siepi, Massimo Raffaele Mannarino, Elsa Moleri, Antonella Bellocchio, Alfredo Cantafora, Patrizia Tarugi, Sebastiano Calandra, Stefano

Journal:

Atherosclerosis

Year:

2005

Language:

english

File:

PDF, 155 KB

english, 2005

25

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

Livia Pisciotta, Claudio Priore Oliva, Angelo Baldassare Cefalù, Davide Noto, Antonella Bellocchio, Raffaele Fresa, Alfredo Cantafora, Dilip Patel, Maurizio Averna, Patrizia Tarugi, Sebastiano Calandr

Journal:

Atherosclerosis

Year:

2006

Language:

english

File:

PDF, 232 KB

english, 2006

26

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

Claudio Priore Oliva, Livia Pisciotta, Ornella Guardamagna, Antonella Bellocchio, Patrizia Tarugi, Frank G. Schaap, Stefano Bertolini, Sebastiano Calandra

Journal:

Atherosclerosis

Year:

2006

Language:

english

File:

PDF, 85 KB

english, 2006

27

Novel mutations of CETP gene in Italian subjects with hyeralphalipoproteinemia

Angelo B. Cefalù, Davide Noto, Lucia Magnolo, Elisa Pinotti, Monica Gomaraschi, Scipione Martini, Giovanni B. Vigna, Laura Calabresi, Patrizia Tarugi, Maurizio R. Averna

Journal:

Atherosclerosis

Year:

2009

Language:

english

File:

PDF, 362 KB

english, 2009

28

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

Laura Calabresi, Peter Nilsson, Elisa Pinotti, Monica Gomaraschi, Elda Favari, Maria Pia Adorni, Franco Bernini, Cesare R. Sirtori, Sebastiano Calandra, Guido Franceschini, Patrizia Tarugi

Journal:

Atherosclerosis

Year:

2009

Language:

english

File:

PDF, 223 KB

english, 2009

29

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

Livia Pisciotta, Patrizia Tarugi, Claudia Borrini, Antonella Bellocchio, Raffaele Fresa, Deanna Guerra, Daniela Quaglino, Ivonne Ronchetti, Sebastiano Calandra, Stefano Bertolini

Journal:

Atherosclerosis

Year:

2010

Language:

english

File:

PDF, 241 KB

english, 2010

30

Plasma non-cholesterol sterols in primary hypobetalipoproteinemia

Davide Noto, Angelo B. Cefalù, Giacoma Barraco, Francesca Fayer, Mariangela Minà, Pin Yue, Patrizia Tarugi, Gustav Schonfeld, Maurizio R. Averna

Journal:

Atherosclerosis

Year:

2011

Language:

english

File:

PDF, 236 KB

english, 2011

31

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

Paola Conca, Silvana Pileggi, Sara Simonelli, Emanuela Boer, Giuliano Boscutti, Lucia Magnolo, Patrizia Tarugi, Silvana Penco, Guido Franceschini, Laura Calabresi, Monica Gomaraschi

Journal:

Journal of Clinical Lipidology

Year:

2012

Language:

english

File:

PDF, 397 KB

english, 2012

32

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

Lucia Magnolo, Mohamed Najah, Tatiana Fancello, Enza Di Leo, Elisa Pinotti, Ines Brini, Neji M. Gueddiche, Sebastiano Calandra, Naceur M. Slimene, Patrizia Tarugi

Journal:

Year:

2013

Language:

english

File:

PDF, 449 KB

english, 2013

33

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

Livia Pisciotta, Roberto Miccoli, Alfredo Cantafora, Laura Calabresi, Patrizia Tarugi, Paola Alessandrini, Gabriele Bittolo Bon, Guido Franceschini, Claudio Cortese, Sebastiano Calandra, Stefano Berto

Journal:

Atherosclerosis

Year:

2003

Language:

english

File:

PDF, 321 KB

english, 2003

34

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)

Patrizia Tarugi, Amedeo Lonardo, Giorgia Ballarini, Laura Erspamer, Emilio Tondelli, Stefano Bertolini, Sebastiano Calandra

Journal:

Journal of Hepatology

Year:

2000

Language:

english

File:

PDF, 1.35 MB

english, 2000

35

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

Ferrari, Stefane, Drusiani, Enoe, Calandra, Sebastiane, Tarugi, Patrizia

Journal:

Year:

1986

Language:

english

File:

PDF, 653 KB

english, 1986

36

Isolation and characterization of an agglutinin present in the haemolymph of the freshwater snail Planorbarius corneus (L.) (Gastropoda, pulmonata)

Ottaviani, Enzo, Tarugi, Patrizia

Journal:

Comparative Biochemistry and Physiology Part B: Comparative Biochemistry

Year:

1986

Language:

english

File:

PDF, 340 KB

english, 1986

37

Purification of an induced bacterial agglutinin in the freshwater snail Planorbarius corneus (L.) (Gastropoda, Pulmonata)

Ottaviani, Enzo, Tarugi, Patrizia

Journal:

Bolletino di zoologia

Year:

1989

Language:

english

File:

PDF, 356 KB

english, 1989

38

Low-Density Lipoprotein (LDL) Receptor/Transferrin Fusion Protein: In Vivo Production and Functional Evaluation as a Potential Therapeutic Tool for Lowering Plasma LDL Cholesterol

Razzini, Giorgia, Parise, Flavia, Calebiro, Davide, Battini, Renata, Bagni, Bruno, Corazzari, Tolmino, Tarugi, Patrizia, Angelelli, Cecilia, Molinari, Susanna, Falqui, Luca, Ferrari, Stefano

Journal:

Human Gene Therapy

Year:

2004

Language:

english

File:

PDF, 614 KB

english, 2004

39

[Advances in Clinical Chemistry] Volume 54 || Hypobetalipoproteinemia

Tarugi, Patrizia

Year:

2011

Language:

english

File:

PDF, 284 KB

english, 2011

40

Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia

Rabacchi, Claudio, Pisciotta, Livia, Cefalù, Angelo B., Noto, Davide, Fresa, Raffaele, Tarugi, Patrizia, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano

Journal:

Atherosclerosis

Year:

2015

Language:

english

File:

PDF, 490 KB

english, 2015

41

Novel LMF1 Nonsense Mutation in a Patient with Severe Hypertriglyceridemia

Cefalù, Angelo B., Noto, Davide, Arpi, Maria Luisa, Yin, Fen, Spina, Rossella, Hilden, Hannele, Barbagallo, Carlo M., Carroccio, Antonio, Tarugi, Patrizia, Squatrito, Sebastiano, Vigneri, Riccardo, Ta

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2009

Language:

english

File:

PDF, 251 KB

english, 2009

42

A Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function

Walsh, Meghan T., Iqbal, Jahangir, Josekutty, Joby, Soh, James, Di Leo, Enza, Özaydin, Eda, Gündüz, Mehmet, Tarugi, Patrizia, Hussain, M. Mahmood

Journal:

Circulation Cardiovascular Genetics

Year:

2015

Language:

english

File:

PDF, 3.78 MB

english, 2015

43

Microsomal triglyceride transfer protein transfers and determines plasma concentrations of ceramide and sphingomyelin, but not glycosylceramide

Iqbal, Jahangir, Walsh, Meghan T., Hammad, Samar M., Cuchel, Marina, Tarugi, Patrizia, Hegele, Robert A., Davidson, Nicholas O., Rader, Daniel J., Klein, Richard L., Hussain, M. Mahmood

Journal:

Journal of Biological Chemistry

Year:

2015

Language:

english

File:

PDF, 1.94 MB

english, 2015

44

β-Thalassemia Is a Modifying Factor of the Clinical Expression of Familial Hypercholesterolemia

Calandra, Sebastiano, Bertolini, Stefano, Pes, Giovanni Mario, Deiana, Luca, Tarugi, Patrizia, Pisciotta, Livia, Li Volti, Salvatore, Li Volti, Giovanni, Maccarone, Carmela

Journal:

Seminars in Vascular Medicine

Year:

2004

File:

PDF, 149 KB

2004

45

Novel Mutations in the GPIHBP1 Gene Identified in Two Patients with Recurrent Acute Pancreatitis

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

Journal:

Journal of Clinical Lipidology

Year:

2015

Language:

english

File:

PDF, 677 KB

english, 2015

46

β-Thalassemia Is a Modifying Factor of the Clinical Expression of Familial Hypercholesterolemia

Calandra, Sebastiano, Bertolini, Stefano, Pes, Giovanni Mario, Deiana, Luca, Tarugi, Patrizia, Pisciotta, Livia, Li Volti, Salvatore, Li Volti, Giovanni, Maccarone, Carmela

Journal:

Seminars in Vascular Medicine

Year:

2004

Language:

english

File:

PDF, 149 KB

english, 2004

47

The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations

Di Leo, Enza, Eminoglu, Tuba, Magnolo, Lucia, Bolkent, Musa Gökalp, Tümer, Leyla, Okur, Ilyas, Tarugi, Patrizia

Journal:

Journal of Clinical Lipidology

Year:

2015

Language:

english

File:

PDF, 533 KB

english, 2015

48

Mutation screening of the Otop1 gene in familial benign positional paroxysmal vertigo

Monzani, Daniele, Fancello, Tatiana, Alicandri-Ciufelli, Matteo, Genovese, Elisabetta, Tarugi, Patrizia, Cavazza, Elisa Aggazzotti, Percesepe, Antonio

Journal:

Hearing, Balance and Communication

Year:

2016

Language:

english

File:

PDF, 444 KB

english, 2016

49

Characterization of a mutant form of human apolipoprotein B (Thr26_Tyr27del) associated with familial hypobetalipoproteinemia

Magnolo, Lucia, Noto, Davide, Cefalù, Angelo B., Averna, Maurizio, Calandra, Sebastiano, Yao, Zemin, Tarugi, Patrizia

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Year:

2016

Language:

english

File:

PDF, 1.81 MB

english, 2016

50

Phenotypic Variability in Four Homozygous FH Siblings Compound Heterozygous for LDLR Mutations

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

Journal:

Journal of Clinical Lipidology

Year:

2016

Language:

english

File:

PDF, 2.76 MB

english, 2016