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Antonio Percesepe

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Publications

TOP 3
Francesca Lami; Monica Marini; Viola Alesi; Diana Carli; Paola Ferrari; Lorenzo Iughetti; Antonio Percesepe
Holoprosencephaly: report of four cases and genotype-phenotype correlations.
Isabella Scionti; Alberto Termanini; Giuliano Tomelleri; Liliana Vercelli; Michelangelo Cao; Roberto D'Amico; Greta Fabbri; Chiara Fiorillo; Francesca Greco; Antonio Percesepe; Giulia Ricci; Lucio Santoro; Rossella Tupler
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.
Vincenzo Mazza; Mariangela Pati; Emma Bertucci; Carlotta Cani; Silvia Latella; Claudia Re; Antonio Percesepe
First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previously affected family.

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All Publications

2013: Francesca Lami; Monica Marini; Viola Alesi; Diana Carli; Paola Ferrari; Lorenzo Iughetti; Antonio Percesepe
Holoprosencephaly: report of four cases and genotype-phenotype correlations.
Journal of genetics 2013;92(1):97-101.
2012: Isabella Scionti; Alberto Termanini; Giuliano Tomelleri; Liliana Vercelli; Michelangelo Cao; Roberto D'Amico; Greta Fabbri; Chiara Fiorillo; Francesca Greco; Antonio Percesepe; Giulia Ricci; Lucio Santoro; Rossella Tupler
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.
Journal of medical genetics 2012;49(3):171-8.
2011: Vincenzo Mazza; Mariangela Pati; Emma Bertucci; Carlotta Cani; Silvia Latella; Claudia Re; Antonio Percesepe
First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previously affected family.
Prenatal diagnosis 2011;31(8):830-1.
2011: Licia Lugli; Michela Malacarne; Simona Cavani; Fabrizio Ferrari; Mauro Pierluigi; Antonio Percesepe
A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay.
Journal of applied genetics 2011;52(3):335-9.
2011: Vincenzo Mazza; Mariangela Pati; Antonio Percesepe; Emma Bertucci; Carlotta Cani; Giancarlo Gargano; Silvia Latella; Annibale Volpe
Second trimester amniocentesis is not a risk factor for very low birth weight and extremely low birth weight.
ISRN obstetrics and gynecology 2011;2011():313206.
2011: Serena Grossi; Susanna Lualdi; Valentina Marchiani; Matthew Mort; Antonio Percesepe; Stefano Regis; Andrea Rossi; Alessandro Simonati; Franco Stanzial; Graziella Uziel; Catherine Vaurs-Barrière; Enrico Bertini; Roberta Biancheri; Odile Boespflug-Tanguy; David N Cooper; Fabio Corsolini; Ercan Demir; Mirella Filocamo
Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.
Orphanet journal of rare diseases 2011;6():40.
2010: Vincenzo Mazza; Silvia Latella; Valentina Fenu; Paola Ferrari; Carlotta Bonilauri; Sandra Santucci; Antonio Percesepe
Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues.
The journal of obstetrics and gynaecology research 2010;36(5):1116-20.
2009: Antonino Forabosco; Antonio Percesepe; Sandra Santucci
Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses.
European journal of human genetics : EJHG 2009;17(7):897-903.
2008: Antonio Percesepe; Emma Bertucci; Paola Ferrari; Licia Lugli; Fabrizio Ferrari; Vincenzo Mazza; Antonino Forabosco
Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele.
Prenatal diagnosis 2008;28(5):447-9.
2007: Roberto Bertorelli; L Capone; F Ambrosetti; L Garavelli; L Varriale; Vincenzo Mazza; I Stanghellini; Antonio Percesepe; A Forabosco
The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia.
Clinical genetics 2007;72(5):490-1.
2007: Antonio Percesepe; Licia Lugli; Mauro Pierluigi; Simona Cavani; Michela Malacarne; Maria Federica Roversi; Fabrizio Ferrari; Antonino Forabosco
Pure segmental trisomy 1q42-qter in a boy with a severe phenotype.
American journal of medical genetics. Part A 2007;143A(19):2339-42.
2007: Vincenzo Mazza; Mariangela Pati; Emma Bertucci; Claudia Re; Andrea Ranzi; Antonio Percesepe; Antonino Forabosco; Annibale Volpe
Age-specific risk of fetal loss post second trimester amniocentesis: analysis of 5043 cases.
Prenatal diagnosis 2007;27(2):180-3.
2006: I Stanghellini; Roberto Bertorelli; L Capone; Vincenzo Mazza; C Neri; Antonio Percesepe; Antonino Forabosco
Quantitation of fetal DNA in maternal serum during the first trimester of pregnancy by the use of a DAZ repetitive probe.
Molecular human reproduction 2006;12(9):587-91.
2005: Antonio Percesepe; Maurizio Ferrari; Domenico A Coviello; Monica Zanussi; Marina Castagni; Isabella Neri; Maurizio Travi; Antonino Forabosco; Silvana Tedeschi
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination.
Prenatal diagnosis 2005;25(11):1011-4.
2004: Domenico A Coviello; Bruno Brambati; Lucia Tului; Antonio Percesepe; Francesca Sironi; Achal Sahai; Roberto Bertorelli; Antonino Forabosco
First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness.
Prenatal diagnosis 2004;24(8):631-4.
2002: Vincenzo Mazza; C Falcinelli; Antonio Percesepe; Simone Paganelli; Annibale Volpe; Antonino Forabosco
Non-invasive first trimester fetal gender assignment in pregnancies at risk for X-linked recessive diseases.
Prenatal diagnosis 2002;22(10):919-24.
2002: David Schlessinger; Luisa Marcela Herrera; Laura Crisponi; Steven Mumm; Antonio Percesepe; Massimo Pellegrini; Giuseppe Pilia; Antonino Forabosco
Genes and translocations involved in POF.
American journal of medical genetics 2002;111(3):328-33.
2002: C Falcinelli; Lorenzo Iughetti; Antonio Percesepe; G Calabrese; F Chiarelli; Mariangela Cisternino; Luisa de Sanctis; I Pucarelli; G Radetti; Malgorzata Wasniewska; G Weber; L Stuppia; Sergio Bernasconi; Antonino Forabosco
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis.
Journal of medical genetics 2002;39(6):E33.
2001: Maurizio Ponz de Leon; Liliana Varesco; Piero Benatti; Romano Sassatelli; Paola Izzo; Maria Irene Scarano; Giovanni B Rossi; Carmela Di Gregorio; Viviana Gismondi; Antonio Percesepe; Marina De Rosa; Luca Roncucci
Phenotype-genotype correlations in an extended family with adenomatosis coli and an unusual APC gene mutation.
Diseases of the colon and rectum 2001;44(11):1597-604.
2001: T Liu; H Yan; Shannon Kuismanen; Antonio Percesepe; Marie-Luise Bisgaard; Monica Pedroni; Piero Benatti; Kenneth W Kinzler; Bert Vogelstein; Maurizio Ponz de Leon; Päivi Peltomäki; Annika Lindblom
The role of hPMS1 and hPMS2 in predisposing to colorectal cancer.
Cancer research 2001;61(21):7798-802.
2001: Antonio Percesepe; Francesca Borghi; Mirco Menigatti; Lorena Losi; M Foroni; Carmela Di Gregorio; Giuseppe Rossi; Monica Pedroni; E Sala; Fabiana Vaccina; Luca Roncucci; Piero Benatti; Alessandra Viel; Maurizio Genuardi; Giancarlo Marra; Paula Kristo; Päivi Peltomäki; Maurizio Ponz de Leon
Molecular screening for hereditary nonpolyposis colorectal cancer: a prospective, population-based study.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2001;19(19):3944-50.
2001: Piero Benatti; Luca Roncucci; Dorval Ganazzi; Antonio Percesepe; Carmela Di Gregorio; Monica Pedroni; Francesca Borghi; E Sala; Alessandra Scarselli; Mirco Menigatti; Giuseppe Rossi; Maurizio Genuardi; Alessandra Viel; Maurizio Ponz de Leon
Clinical and biologic heterogeneity of hereditary nonpolyposis colorectal cancer.
International journal of cancer. Journal international du cancer 2001;95(5):323-8.
2001: Mirco Menigatti; Carmela Di Gregorio; Francesca Borghi; E Sala; Alessandra Scarselli; Monica Pedroni; M Foroni; Piero Benatti; Luca Roncucci; Maurizio Ponz de Leon; Antonio Percesepe
Methylation pattern of different regions of the MLH1 promoter and silencing of gene expression in hereditary and sporadic colorectal cancer.
Genes, chromosomes & cancer 2001;31(4):357-61.
2001: Monica Pedroni; E Sala; Alessandra Scarselli; Francesca Borghi; Mirco Menigatti; Piero Benatti; Antonio Percesepe; Giuseppe Rossi; M Foroni; Lorena Losi; Carmela Di Gregorio; Anto De Pol; Riccardo Nascimbeni; Ernesto Di Betta; Bruno Salerni; Maurizio Ponz de Leon; Luca Roncucci
Microsatellite instability and mismatch-repair protein expression in hereditary and sporadic colorectal carcinogenesis.
Cancer research 2001;61(3):896-9.
2001: Emanuela Lucci-Cordisco; Valentina Rovella; Stefania Carrara; Antonio Percesepe; Monica Pedroni; Alfonso Bellacosa; O Caluseriu; M Forasarig; Marcello Anti; Giovanni Neri; Maurizio Ponz de Leon; Alessandra Viel; Maurizio Genuardi
Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer.
Familial cancer 2001;1(2):93-9.
2000: Maurizio Ponz de Leon; Antonio Percesepe
Pathogenesis of colorectal cancer.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2000;32(9):807-21.
2000: Darius C Desai; Janet Lockman; RB Chadwick; X Gao; Antonio Percesepe; D G Evans; M Miyaki; S T Yuen; P Radice; E R Maher; Fred A Wright; Albert de La Chapelle
Recurrent germline mutation in MSH2 arises frequently de novo.
Journal of medical genetics 2000;37(9):646-52.
2000: Maurizio Ponz de Leon; Piero Benatti; Monica Pedroni; Alessandra Viel; Maurizio Genuardi; Antonio Percesepe; Luca Roncucci
Problems in the identification of hereditary nonpolyposis colorectal cancer in two families with late development of full-blown clinical spectrum.
The American journal of gastroenterology 2000;95(8):2110-5.
2000: Maurizio Ponz de Leon; Piero Benatti; Carmela Di Gregorio; R Fante; Giuseppe Rossi; Lorena Losi; Monica Pedroni; Antonio Percesepe; Luca Roncucci
Staging and survival of colorectal cancer: are we making progress? The 14-year experience of a Specialized cancer Registry.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2000;32(4):312-7.
2000: Antonio Percesepe; Monica Pedroni; E Sala; Mirco Menigatti; Francesca Borghi; Lorena Losi; Alessandra Viel; Maurizio Genuardi; Piero Benatti; Luca Roncucci; Päivi Peltomäki; Maurizio Ponz de Leon
Genomic instability and target gene mutations in colon cancers with different degrees of allelic shifts.
Genes, chromosomes & cancer 2000;27(4):424-9.
1999: Maurizio Ponz de Leon; Piero Benatti; Antonio Percesepe; A Cacciatore; Romano Sassatelli; G Bertoni; G Sabadini; Liliana Varesco; Viviana Gismondi; Cristina Mareni; Mariapina Montera; Carmela Di Gregorio; P Landi; Luca Roncucci
Clinical features and genotype-phenotype correlations in 41 Italian families with adenomatosis coli.
Italian journal of gastroenterology and hepatology 1999;31(9):850-60.
1999: A Riccio; Lauri A Aaltonen; A K Godwin; Anu Loukola; Antonio Percesepe; Reijo Salovaara; Valeria Masciullo; Maurizio Genuardi; M Paravatou-Petsotas; Daniel E Bassi; B A Ruggeri; Andres Klein-Szanto; J R Testa; Giovanni Neri; Alfonso Bellacosa
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability.
Nature genetics 1999;23(3):266-8.
1999: Maurizio Ponz de Leon; Piero Benatti; Antonio Percesepe; Giuseppe Rossi; Alessandra Viel; Manuela Santarosa; Monica Pedroni; Luca Roncucci
Clinical and molecular diagnosis of hereditary non-polyposis colorectal cancer: problems and pitfalls in an extended pedigree.
Italian journal of gastroenterology and hepatology 1999;31(6):476-80.
1999: Maurizio Ponz de Leon; Monica Pedroni; Piero Benatti; Antonio Percesepe; Carmela Di Gregorio; M Foroni; Giuseppe Rossi; Maurizio Genuardi; Giovanni Neri; F Leonardi; Alessandra Viel; E Capozzi; Mauro Boiocchi; Luca Roncucci
Hereditary colorectal cancer in the general population: from cancer registration to molecular diagnosis.
Gut 1999;45(1):32-8.
1999: Maurizio Ponz de Leon; Monica Pedroni; Piero Benatti; Antonio Percesepe; Giuseppe Rossi; Maurizio Genuardi; Luca Roncucci
Epidemiologic and genetic factor in colorectal cancer: development of cancer in dizygotic twins in a family with Lynch syndrome.
Italian journal of gastroenterology and hepatology 1999;31(3):218-22.
1999: Monica Pedroni; MG Tamassia; Antonio Percesepe; Luca Roncucci; Piero Benatti; Giovanni Lanza; Roberta Gafà; Carmela Di Gregorio; R Fante; Lorena Losi; L Gallinari; F Scorcioni; Fabiana Vaccina; Giuseppe Rossi; A M Cesinaro; Maurizio Ponz de Leon
Microsatellite instability in multiple colorectal tumors.
International journal of cancer. Journal international du cancer 1999;81(1):1-5.
1999: Maurizio Ponz de Leon; Piero Benatti; Antonio Percesepe; Carmela Di Gregorio; R Fante; Lorena Losi; Giuseppe Rossi; Monica Pedroni; Luca Roncucci
Epidemiology of cancer of the large bowel--the 12-year experience of a specialized registry in northern Italy.
Italian journal of gastroenterology and hepatology 1999;31(1):10-8.
1999: Thomas W Prior; R B Chadwick; Audrey C Papp; A N Arcot; A M Isa; Dennis K Pearl; G Stemmermann; Antonio Percesepe; Anu Loukola; Lauri A Aaltonen; Albert de La Chapelle
The I1307K polymorphism of the APC gene in colorectal cancer.
Gastroenterology 1999;116(1):58-63.
1998: Piero Benatti; Luca Roncucci; Antonio Percesepe; Alessandra Viel; Monica Pedroni; MG Tamassia; Fabiana Vaccina; R Fante; S De Pietri; Maurizio Ponz de Leon
Small bowel carcinoma in hereditary nonpolyposis colorectal cancer.
The American journal of gastroenterology 1998;93(11):2219-22.
1998: Antonio Percesepe; Paula Kristo; Lauri A Aaltonen; Maurizio Ponz de Leon; Albert de La Chapelle; Päivi Peltomäki
Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability.
Oncogene 1998;17(2):157-63.
1998: Maurizio Ponz de Leon; G Della Casa; Piero Benatti; Antonio Percesepe; Carmela Di Gregorio; R Fante; Luca Roncucci
Frequency and type of colorectal tumors in asymptomatic high-risk individuals in families with hereditary nonpolyposis colorectal cancer.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 1998;7(7):639-41.
1998: Maurizio Genuardi; Marcello Anti; E Capozzi; F Leonardi; Mara Fornasarig; E Novella; Alfonso Bellacosa; A Valenti; G B Gasbarrini; Luca Roncucci; Piero Benatti; Antonio Percesepe; M Ponz de Leòn; C Coco; Antonino De Paoli; M Valentini; Mauro Boiocchi; Giovanni Neri; Alessandra Viel
MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer.
International journal of cancer. Journal international du cancer 1998;75(6):835-9.
1998: Alessandra Viel; Maurizio Genuardi; Emanuela Lucci-Cordisco; E Capozzi; Valentina Rovella; Mara Fornasarig; M Ponz de Leòn; Marcello Anti; Monica Pedroni; Alfonso Bellacosa; Antonio Percesepe; Marcello Covino; Piero Benatti; L Del Tin; Luca Roncucci; M Valentini; Mauro Boiocchi; Giovanni Neri
Hereditary nonpolyposis colorectal cancer: an approach to the selection of candidates to genetic testing based on clinical and molecular characteristics.
Community genetics 1998;1(4):229-36.
1997: R Fante; Piero Benatti; Carmela Di Gregorio; S De Pietri; Monica Pedroni; MG Tamassia; Antonio Percesepe; Giuseppe Rossi; Lorena Losi; Luca Roncucci; Maurizio Ponz de Leon
Colorectal carcinoma in different age groups: a population-based investigation.
The American journal of gastroenterology 1997;92(9):1505-9.
1997: Antonio Percesepe; Piero Benatti; Luca Roncucci; Romano Sassatelli; R Fante; Dorval Ganazzi; Alfonso Bellacosa; Maurizio Genuardi; G Neri; Alessandra Viel; Maurizio Ponz de Leon
Survival analysis in families affected by hereditary non-polyposis colorectal cancer.
International journal of cancer. Journal international du cancer 1997;71(3):373-6.
1997: Chiara Scapoli; ANDREW COLLINS; Piero Benatti; Antonio Percesepe; Luca Roncucci; Maurizio Ponz de Leon
A two-locus model for hereditary non-polyposis colorectal cancer in Modena, Italy.
Annals of human genetics 1997;61(Pt 2):109-19.
1997: Lorena Losi; Maurizio Ponz de Leon; J Jiricny; Carmela Di Gregorio; Piero Benatti; Antonio Percesepe; R Fante; Luca Roncucci; Monica Pedroni; Jean Benhattar
K-ras and p53 mutations in hereditary non-polyposis colorectal cancers.
International journal of cancer. Journal international du cancer 1997;74(1):94-6.
1997: Marcello Anti; G Marra; F Armelao; Antonio Percesepe; Nicola Gentiloni
Modulating effect of omega-3 fatty acids on the proliferative pattern of human colorectal mucosa.
Advances in experimental medicine and biology 1997;400B():605-10.
1997: Alessandra Viel; Maurizio Genuardi; E Capozzi; F Leonardi; Alfonso Bellacosa; M Paravatou-Petsotas; Maria Grazia Pomponi; Mara Fornasarig; Antonio Percesepe; Luca Roncucci; MG Tamassia; Piero Benatti; Maurizio Ponz de Leon; A Valenti; Marcello Covino; Marcello Anti; M Foletto; Mauro Boiocchi; Giovanni Neri
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.
Genes, chromosomes & cancer 1997;18(1):8-18.
1996: Carmela Di Gregorio; R Fante; Luca Roncucci; MG Tamassia; Lorena Losi; Piero Benatti; Monica Pedroni; Antonio Percesepe; S De Pietri; Maurizio Ponz de Leon
Clinical features, frequency and prognosis of Dukes' A colorectal carcinoma: a population-based investigation.
European journal of cancer (Oxford, England : 1990) 1996;32A(11):1957-62.
1996: R Fante; Luca Roncucci; MG Tamassia; Lorena Losi; Piero Benatti; Monica Pedroni; Antonio Percesepe; S De Pietri; Maurizio Ponz de Leon
Frequency and clinical features of multiple tumors of the large bowel in the general population and in patients with hereditary colorectal carcinoma.
Cancer 1996;77(10):2013-21.
1996: A Arrigoni; S Bargiacchi; Piero Benatti; A Heouaine; Cristina Mareni; L Messerini; Mariapina Montera; S Mori; Antonio Percesepe; silvano presciuttini; M P Rocci; Paola Sala
Collection of Italian hereditary non-polyposis colorectal cancer (HNPCC) pedigrees.
Tumori 1996;82(2):151-79.
1995: Antonio Percesepe; Marcello Anti; Luca Roncucci; F Armelao; G Marra; M Pahor; Claudio Coco; G Gasbarrini; M Ponz de Leon
The effect of family size on estimates of the frequency of hereditary non-polyposis colorectal cancer.
British journal of cancer 1995;72(5):1320-3.
1994: Marcello Anti; F Armelao; G Marra; Antonio Percesepe; GM Bartoli; Paola Palozza; P Parrella; C Canetta; Nicola Gentiloni; Italo De Vitis
Effects of different doses of fish oil on rectal cell proliferation in patients with sporadic colonic adenomas.
Gastroenterology 1994;107(6):1709-18.
1994: Antonio Percesepe; Marcello Anti; G Marra; Luca Roncucci; M Pahor; Claudio Coco; F Armelao; G Gasbarrini; M Ponz de Leon
Role of clinical criteria in the diagnosis of hereditary non-polyposis colorectal cancer (HNPCC): results of a multivariate analysis.
International journal of cancer. Journal international du cancer 1994;58(6):799-802.
1994: G Marra; Marcello Anti; Antonio Percesepe; F Armelao; R Ficarelli; Claudio Coco; Alessandro Rinelli; F M Vecchio; E D'Arcangelo
Circadian variations of epithelial cell proliferation in human rectal crypts.
Gastroenterology 1994;106(4):982-7.
1994: Marcello Anti; G Marra; Gian Ludovico Rapaccini; C Rumi; S Bussa; G Fadda; F M Vecchio; A Valenti; Antonio Percesepe; Maurizio Pompili
DNA ploidy pattern in human chronic liver diseases and hepatic nodular lesions. Flow cytometric analysis on echo-guided needle liver biopsy.
Cancer 1994;73(2):281-8.
1994: G Marra; F Armelao; F M Vecchio; Antonio Percesepe; Marcello Anti
Cowden's disease with extensive gastrointestinal polyposis.
Journal of clinical gastroenterology 1994;18(1):42-7.
1994: Marcello Anti; G Marra; Antonio Percesepe; F Armelao; G Gasbarrini
Reliability of rectal epithelial kinetic patterns as an intermediate biomarker of colon cancer.
Journal of cellular biochemistry. Supplement 1994;19():68-75.
1993: Marcello Anti; G Marra; F Armelao; Antonio Percesepe; R Ficarelli; G M Ricciuto; A Valenti; Gian Ludovico Rapaccini; Italo De Vitis; G D'Agostino
Rectal epithelial cell proliferation patterns as predictors of adenomatous colorectal polyp recurrence.
Gut 1993;34(4):525-30.
1992: Marcello Anti; G Marra; F Armelao; GM Bartoli; R Ficarelli; Antonio Percesepe; Italo De Vitis; G Maria; L Sofo; Gian Ludovico Rapaccini
Effect of omega-3 fatty acids on rectal mucosal cell proliferation in subjects at risk for colon cancer.
Gastroenterology 1992;103(3):883-91.