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Enza Di Leo

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Lucia Magnolo; Mohamed Najah; Elisa Pinotti; Naceur M Slimene; Ines Brini; Sebastiano Calandra; Enza Di Leo; Tatiana Fancello; Neji M Gueddiche; Patrizia Tarugi
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.
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
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia.
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
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.

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All Publications

2013: Lucia Magnolo; Mohamed Najah; Elisa Pinotti; Naceur M Slimene; Ines Brini; Sebastiano Calandra; Enza Di Leo; Tatiana Fancello; Neji M Gueddiche; Patrizia Tarugi
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.
Gene 2013;512(1):28-34.
2009: 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
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia.
Clinica chimica acta; international journal of clinical chemistry 2009;401(1-2):51-6.
2009: 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
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.
Molecular genetics and metabolism 2009;96(2):66-72.
2008: Enza Di Leo; L Magnolo; Marco Bertolotti; M Bourbon; S Carmo Pereira; M Pirisi; Sebastiano Calandra; Patrizia Tarugi
Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations.
Clinical genetics 2008;74(3):267-73.
2007: Patrizia Tarugi; Maurizio R Averna; Enza Di Leo; Angelo B Cefalù; Davide Noto; Lucia Magnolo; Luigi Cattin; Stefano Bertolini; Sebastiano Calandra
Molecular diagnosis of hypobetalipoproteinemia: an ENID review.
Atherosclerosis 2007;195(2):e19-27.
2007: Tommaso Fasano; Angelo B Cefalù; Enza Di Leo; Davide Noto; Daniela Pollaccia; Letizia Bocchi; Vincenza Valenti; Renato Bonardi; Ornella Guardamagna; Maurizio R Averna; Patrizia Tarugi
A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol.
Arteriosclerosis, thrombosis, and vascular biology 2007;27(3):677-81.
2007: Enza Di Leo; Lucia Magnolo; Sandra Lancellotti; Lory Saveria Crocè; Luca Visintin; Claudio Tiribelli; Stefano Bertolini; Sebastiano Calandra; Patrizia Tarugi
Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia.
Journal of medical genetics 2007;44(3):219-24.
2005: Sandra Lancellotti; Marco Zaffanello; Enza Di Leo; Lorenzo Costa; Amedeo Lonardo; Patrizia Tarugi
Pediatric gallstone disease in familial hypobetalipoproteinemia.
Journal of hepatology 2005;43(1):188-91.
2005: Enza Di Leo; Sandra Lancellotti; Junia Y Penacchioni; Angelo B Cefalù; Maurizio R Averna; Livia Pisciotta; Stefano Bertolini; Sebastiano Calandra; Carlo Gabelli; Patrizia Tarugi
Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.
Atherosclerosis 2005;180(2):311-8.
2004: Dealba Gheduzzi; Rita Guidetti; Claudia Anzivino; Patrizia Tarugi; Enza Di Leo; Daniela Quaglino; Ivonne Pasquali Ronchetti
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
Human mutation 2004;24(5):438-9.
2004: Enza Di Leo; Francesca Panico; Patrizia Tarugi; Carla Battisti; Antonio Federico; Sebastiano Calandra
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.
Human mutation 2004;24(5):440.
2004: Sandra Lancellotti; Enza Di Leo; Junia Y Penacchioni; Fiorella Balli; Laura Viola; Stefano Bertolini; Sebastiano Calandra; Patrizia Tarugi
Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B.
Biochimica et biophysica acta 2004;1688(1):61-7.
2002: Patrizia Tarugi; Giorgia Ballarini; Bruno Bembi; Carla Battisti; Silvia Palmeri; Francesca Panzani; Enza Di Leo; Cristina Martini; Antonio Federico; Sebastiano Calandra
Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.
Journal of lipid research 2002;43(11):1908-19.