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Barbara Pasini

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I Borelli; Carlo Carcassi; Monica Micheletti; Paola Sala; Francesca Spina; Caterina Vivanet; Guido C Casalis Cavalchini; Anna Allavena; Luisa Balestrino; Marco A Barberis; Barbara Pasini
A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.
David Serra; Mário Silva; Pedro Amaro; Barbara Ferrando; Margarida Gonçalo; Barbara Pasini; Américo Figueiredo
Gastric leiomyoma and hyperplastic polyposis coli in a patient with multiple cutaneous and uterine leiomyomatosis.
Paraskevi Xekouki; George Tolis; Christopher A Wassif; Madson Almeida; Monalisa Azevedo; Evan Ball; Maria De La Luz Sierra; Barbara Ferrando; Anelia Horvath; Charalampos Lyssikatos; Aristides Lytras; Joey Matro; Maria Nesterova; Karel Pacak; Barbara Pasini; Nicholas Patronas; Martha Quezado; Pierre Rustin; Constantine A Stratakis
Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?

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All Publications

2013: I Borelli; Carlo Carcassi; Monica Micheletti; Paola Sala; Francesca Spina; Caterina Vivanet; Guido C Casalis Cavalchini; Anna Allavena; Luisa Balestrino; Marco A Barberis; Barbara Pasini
A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.
European journal of human genetics : EJHG 2013;21(2):154-61.
2012: David Serra; Mário Silva; Pedro Amaro; Barbara Ferrando; Margarida Gonçalo; Barbara Pasini; Américo Figueiredo
Gastric leiomyoma and hyperplastic polyposis coli in a patient with multiple cutaneous and uterine leiomyomatosis.
Journal of cutaneous medicine and surgery 2012;16(3):208-11.
2012: Paraskevi Xekouki; George Tolis; Christopher A Wassif; Madson Almeida; Monalisa Azevedo; Evan Ball; Maria De La Luz Sierra; Barbara Ferrando; Anelia Horvath; Charalampos Lyssikatos; Aristides Lytras; Joey Matro; Maria Nesterova; Karel Pacak; Barbara Pasini; Nicholas Patronas; Martha Quezado; Pierre Rustin; Constantine A Stratakis
Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?
The Journal of clinical endocrinology and metabolism 2012;97(3):E357-66.
2009: William Bruno; Paola Ghiorzo; Linda Battistuzzi; Paolo A Ascierto; Monica Barile; Sara Gargiulo; Francesca Gensini; Sara Gliori; Michele Guida; Maurizio Lombardo; Siranoush Manoukian; Chiara Menin; Sabina Nasti; Paola Origone; Barbara Pasini; Lorenza Pastorino; Bernard Peissel; Maria Antonietta Pizzichetta; Paola Queirolo; Monica Rodolfo; Antonella Romanini; Maria Chiara Scaini; Alessandro Testori; Maria Grazia Tibiletti; Daniela Turchetti; Sancy A Leachman; Giovanna Bianchi-Scarrà
Clinical genetic testing for familial melanoma in Italy: a cooperative study.
Journal of the American Academy of Dermatology 2009;61(5):775-82.
2009: Barbara Pasini; Constantine Straturis
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes.
Journal of internal medicine 2009;266(1):19-42.
2008: Joanne Kotsopoulos; Clifford L Librach; Jan Lubinski; Jacek Gronwald; Charmaine Kim-Sing; Parviz Ghadirian; Henry T Lynch; Pal Moller; William D Foulkes; Susan Randall; Siranoush Manoukian; Barbara Pasini; Nadine Tung; Peter Ainsworth; Shelly Cummings; Ping Sun; Steven A Narod
Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case-control study.
Cancer causes & control : CCC 2008;19(10):1111-9.
2008: Barbara Pasini; Sarah R McWhinney; Thalia Bei; Ludmila Matyakhina; Sotirios Stergiopoulos; michael muchow; Sosipatros Boikos; Barbara Ferrando; Karel Pacak; Guillaume Assie; Eric Baudin; Agnès Chompret; Jay W Ellison; Jean-Jacques Briere; Pierre Rustin; Anne-Paule Gimenez-Roqueplo; Charis Eng; J Aidan Carney; Constantine Straturis
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.
European journal of human genetics : EJHG 2008;16(1):79-88.
2007: Sarah R McWhinney; Barbara Pasini; Constantine Straturis
Familial gastrointestinal stromal tumors and germ-line mutations.
The New England journal of medicine 2007;357(10):1054-6.
2007: Barbara Pasini; Ludmila Matyakhina; Thalia Bei; michael muchow; Sosipatros Boikos; Barbara Ferrando; J Aidan Carney; Constantine Straturis
Multiple gastrointestinal stromal and other tumors caused by platelet-derived growth factor receptor alpha gene mutations: a case associated with a germline V561D defect.
The Journal of clinical endocrinology and metabolism 2007;92(9):3728-32.
2007: Ludmila Matyakhina; Thalia Bei; Sarah R McWhinney; Barbara Pasini; Silke Cameron; Bastian Gunawan; Sotirios Stergiopoulos; Sosipatros Boikos; michael muchow; Amalia Dutra; Evgenia Pak; Elias Campo; Maria C Cid; Fulgencio Gomez; Rolf C Gaillard; Guillaume Assie; László Füzesi; Bora E Baysal; Charis Eng; J Aidan Carney; Constantine Straturis
Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors.
The Journal of clinical endocrinology and metabolism 2007;92(8):2938-43.
2006: Maria Luisa Carcangiu; Bernard Peissel; Barbara Pasini; Gianbattista Spatti; Paolo Radice; Siranoush Manoukian
Incidental carcinomas in prophylactic specimens in BRCA1 and BRCA2 germ-line mutation carriers, with emphasis on fallopian tube lesions: report of 6 cases and review of the literature.
The American journal of surgical pathology 2006;30(10):1222-30.
2006: Amy Finch; Mario E Beiner; Jan Lubinski; Henry T Lynch; Pal Moller; Barry Rosen; Joan Murphy; Parviz Ghadirian; Eitan Friedman; William D Foulkes; Charmaine Kim-Sing; Teresa Wagner; Nadine Tung; Fergus J. Couch; Dominique Stoppa-Lyonnet; Peter Ainsworth; Mary Daly; Barbara Pasini; Ruth Gershoni-Baruch; Charis Eng; Olufunmilayo I Olopade; Jane McLennan; Beth Y Karlan; Jeffrey N Weitzel; Ping Sun; Steven A Narod
Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation.
JAMA : the journal of the American Medical Association 2006;296(2):185-92.
2006: Katia Sampieri; Theodora Hadjistilianou; Francesca Mari; Caterina Speciale; Maria Antonietta Mencarelli; Francesco Cetta; Siranoush Manoukian; Bernard Peissel; Daniela Giachino; Barbara Pasini; Antonio Acquaviva; Aldo Caporossi; Renato Frezzotti; Alessandra Renieri; Mirella Bruttini
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.
Journal of human genetics 2006;51(3):209-16.
2006: Jean-Pierre Bayley; Ivonne van Minderhout; Janneke Weiss; Jeroen C Jansen; Peter H N Oomen; Fred H Menko; Barbara Pasini; Barbara Ferrando; Nora Wong; Lesley C Alpert; Rosie Williams; Edward Blair; Peter Devilee; Peter E M Taschner
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.
BMC medical genetics 2006;7():1.
2005: Carey A Cullinane; Jan Lubinski; Susan L Neuhausen; Parviz Ghadirian; Henry T Lynch; Claudine Isaacs; Barbara Weber; Pal Moller; Kenneth Offit; Charmaine Kim-Sing; Eitan Friedman; Susan Randall; Barbara Pasini; Peter Ainsworth; Ruth Gershoni-Baruch; William D Foulkes; Jan Klijn; Nadine Tung; Gad Rennert; Olufunmilayo I Olopade; Fergus J. Couch; Teresa Wagner; Håkan Olsson; Ping Sun; Jeffrey N Weitzel; Steven A Narod
Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers.
International journal of cancer. Journal international du cancer 2005;117(6):988-91.
2005: Jeffrey N Weitzel; Mark Robson; Barbara Pasini; Siranoush Manoukian; Dominique Stoppa-Lyonnet; Henry T Lynch; Jane McLennan; William D Foulkes; Teresa Wagner; Nadine Tung; Parviz Ghadirian; Olufunmilayo I Olopade; Claudine Isaacs; Charmaine Kim-Sing; Pal Møller; Susan L Neuhausen; Kelly A Metcalfe; Ping Sun; Steven A Narod
A comparison of bilateral breast cancers in BRCA carriers.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2005;14(6):1534-8.
2005: Antonella Aiello; Katia Cioni; Morena Gobbo; Paola Collini; Maria Gullo; Gabriella Della Torre; Emanuele Passerini; Barbara Ferrando; Silvana Pilotti; Marco A Pierotti; Barbara Pasini
The familial medullary thyroid carcinoma-associated RET E768D mutation in a multiple endocrine neoplasia type 2A case.
Surgery 2005;137(5):574-6.
2004: Maria Luisa Carcangiu; Paolo Radice; Siranoush Manoukian; Gianbattista Spatti; Morena Gobbo; Valeria Pensotti; Rosella Crucianelli; Barbara Pasini
Atypical epithelial proliferation in fallopian tubes in prophylactic salpingo-oophorectomy specimens from BRCA1 and BRCA2 germline mutation carriers.
International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists 2004;23(1):35-40.
2003: Franco Mattavelli; Ettore Seregni; Paola Collini; Barbara Pasini; Antonella Aiello; Carmen Barbaccia; Gabriella Bimbi; Stefano Riccio; Sergio Santamaria
Prophylactic thyroidectomy in MEN 2A syndrome.
Tumori 2003;89(5):553-5.
2003: Giovanna Trecate; Daniele Vergnaghi; Silvana Bergonzi; Tiziana De Simone; Elena Fengoni; Claudia Costa; Gianbattista Spatti; Barbara Pasini; Siranoush Manoukian; Franca Podo; Renato Musumeci
Breast MRI screening in patients with increased familial and/or genetic risk for breast cancer: a preliminary experience.
Tumori 2003;89(2):125-31.
2002: Giovanna Trecate; Daniele Vergnaghi; Silvana Bergonzi; Tiziana De Simone; Claudia Costa; Gianbattista Spatti; Barbara Pasini; Renato Musumeci
BMRI in early detection of breast cancer in patients with increased genetic risk: our preliminary results.
Journal of experimental & clinical cancer research : CR 2002;21(3 Suppl):125-30.
2002: Barbara Pasini; G C Casalis Cavalchini; T Genovese; Siranoush Manoukian
Evaluating breast cancer risk: available models to assess individual breast cancer risk and probability to be a BRCA mutation carrier.
Journal of experimental & clinical cancer research : CR 2002;21(3 Suppl):23-9.
2002: Barbara Pasini; Roberta Rossi; Maria Rosaria Ambrosio; Maria Chiara Zatelli; Maria Gullo; Morena Gobbo; Paola Collini; Antonella Aiello; Gian Carlo Pansini; Giorgio Trasforini; Ettore C degli Uberti
RET mutation profile and variable clinical manifestations in a family with multiple endocrine neoplasia type 2A and Hirschsprung's disease.
Surgery 2002;131(4):373-81.
2002: Michela Mantelli; Monica Barile; Paola Ciotti; Paola Ghiorzo; Francesca Lantieri; Lorenza Pastorino; Caterina Catricalà; Gabriella Della Torre; Ugo Folco; Paola Grammatico; Laura Padovani; Barbara Pasini; Dario Rovini; Paola Queirolo; Maria Luisa Rainero; Pier Luigi Santi; Roberto M Sertoli; Alisa M Goldstein; Giovanna Bianchi-Scarrà
High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families.
American journal of medical genetics 2002;107(3):214-21.
2001: Gabriella Della Torre; Barbara Pasini; S Frigerio; R Donghi; D Rovini; Domenico Delia; G Peters; T J Huot; Giovanna Bianchi-Scarra; Francesca Lantieri; Monica Rodolfo; Giorgio Parmiani; Marco A Pierotti
CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.
British journal of cancer 2001;85(6):836-44.
2001: C Magnani; E Passerini; Barbara Pasini; P Regolo; T Fiore; A Libroia; U Verga; M Ferrari
Search for germline mutations by DGGE in Italian von Hippel-Lindau patients.
Contributions to nephrology 2001;(136):271-80.
2000: Steven A Narod; Jean-Sebastien Brunet; Parviz Ghadirian; Mark Robson; K Heimdal; Susan L Neuhausen; D Stoppa-Lyonnet; C Lerman; Barbara Pasini; P de los Rios; Barbara Weber; Henry T Lynch
Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group.
Lancet 2000;356(9245):1876-81.
1999: Italia Bongarzone; E Vigano; Luisella Alberti; Piera Mondellini; M Uggeri; Barbara Pasini; Maria Grazia Borrello; Marco A Pierotti
The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein.
Oncogene 1999;18(34):4833-8.
1998: Italia Bongarzone; E Vigano; Luisella Alberti; Maria Grazia Borrello; Barbara Pasini; Angela Greco; Piera Mondellini; D P Smith; Bruce A J Ponder; Giovanni Romeo; Marco A Pierotti
Full activation of MEN2B mutant RET by an additional MEN2A mutation or by ligand GDNF stimulation.
Oncogene 1998;16(18):2295-301.
1998: V M De Benedetti; Paolo Radice; Barbara Pasini; L Stagi; Valeria Pensotti; Patrizia Mondini; Siranoush Manoukian; A Conti; Gianbattista Spatti; F Rilke; Marco A Pierotti
Characterization of ten novel and 13 recurring BRCA1 and BRCA2 germline mutations in Italian breast and/or ovarian carcinoma patients. Mutations in brief no. 178. Online.
Human mutation 1998;12(3):215.
1997: Renata Bocciardi; Baharia Mograbi; Barbara Pasini; Maria Grazia Borrello; Marco A Pierotti; Isabelle Bourget; S Fischer; Giovanni Romeo; Bernard Rossi
The multiple endocrine neoplasia type 2B point mutation switches the specificity of the Ret tyrosine kinase towards cellular substrates that are susceptible to interact with Crk and Nck.
Oncogene 1997;15(19):2257-65.
1997: Isabella Ceccherini; Barbara Pasini; Furio Pacini; Maria Gullo; Italia Bongarzone; Cristina Romei; Giuseppe Santamaria; Ivana Matera; Piera Mondellini; L Scopsi; Aldo Pinchera; Marco A Pierotti; Giovanni Romeo
Somatic in frame deletions not involving juxtamembranous cysteine residues strongly activate the RET proto-oncogene.
Oncogene 1997;14(21):2609-12.
1997: Elena Arighi; Luisella Alberti; F Torriti; Simona Ghizzoni; Maria Grazia Rizzetti; G Pelicci; Barbara Pasini; Italia Bongarzone; C Piutti; Marco A Pierotti; Maria Grazia Borrello
Identification of Shc docking site on Ret tyrosine kinase.
Oncogene 1997;14(7):773-82.
1997: Marco Seri; L Yin; V Barone; Alessandra Bolino; I Celli; Renata Bocciardi; Barbara Pasini; Isabella Ceccherini; Margherita Lerone; U Kristoffersson; L T Larsson; J M Casasa; D T Cass; M J Abramowicz; J M Vanderwinden; I Kravcenkiene; I Baric; Margherita Silengo; Giuseppe Martucciello; Giovanni Romeo
Frequency of RET mutations in long- and short-segment Hirschsprung disease.
Human mutation 1997;9(3):243-9.
1996: L Scopsi; M R Castellani; M Gullo; F Cusumano; E Camerini; Barbara Pasini; S Orefice
Malignant pheochromocytoma in multiple endocrine neoplasia type 2B syndrome. Case report and review of the literature.
Tumori 1996;82(5):480-4.
1996: Maria Grazia Borrello; Luisella Alberti; E Arighi; Italia Bongarzone; C Battistini; Alberto Bardelli; Barbara Pasini; C Piutti; Maria Grazia Rizzetti; Piera Mondellini; M T Radice; Marco A Pierotti
The full oncogenic activity of Ret/ptc2 depends on tyrosine 539, a docking site for phospholipase Cgamma.
Molecular and cellular biology 1996;16(5):2151-63.
1996: Barbara Pasini; Isabella Ceccherini; Giovanni Romeo
RET mutations in human disease.
Trends in genetics : TIG 1996;12(4):138-44.
1995: Maria Grazia Borrello; D P Smith; Barbara Pasini; Italia Bongarzone; Angela Greco; M J Lorenzo; E Arighi; Claudia Miranda; C Eng; Luisella Alberti
RET activation by germline MEN2A and MEN2B mutations.
Oncogene 1995;11(11):2419-27.
1995: Barbara Pasini; Robert M W Hofstra; Luo Yin; Renata Bocciardi; G Santamaria; P M Grootscholten; Isabella Ceccherini; G Patrone; Manuela Priolo; Charles H C M Buys
The physical map of the human RET proto-oncogene.
Oncogene 1995;11(9):1737-43.
1995: Robert M W Hofstra; T Stelwagen; Barbara Pasini; Anneke Y van der Veen; B A Ponder; Y Nakamura; Giovanni Romeo; Charles H C M Buys
Ordering of markers in the pericentromeric region of chromosome 10.
Human genetics 1995;96(1):116-8.
1995: Barbara Pasini; Maria Grazia Borrello; Angela Greco; Italia Bongarzone; Y Luo; Piera Mondellini; Luisella Alberti; Claudia Miranda; E Arighi; Renata Bocciardi
Loss of function effect of RET mutations causing Hirschsprung disease.
Nature genetics 1995;10(1):35-40.
1994: Giovanni Romeo; P Ronchetto; Y Luo; V Barone; Marco Seri; Isabella Ceccherini; Barbara Pasini; Renata Bocciardi; Margherita Lerone; H Kääriäinen
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease.
Nature 1994;367(6461):377-8.
1994: Robert M W Hofstra; R M Landsvater; Isabella Ceccherini; Rein P Stulp; T Stelwagen; Y Luo; Barbara Pasini; Jo W M Höppener; H K van Amstel; Giovanni Romeo
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.
Nature 1994;367(6461):375-6.
1994: Luo Yin; V Barone; Marco Seri; Alessandra Bolino; Renata Bocciardi; Isabella Ceccherini; Barbara Pasini; T Tocco; Margherita Lerone; S Cywes
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease.
European journal of human genetics : EJHG 1994;2(4):272-80.
1993: Isabella Ceccherini; Renata Bocciardi; Y Luo; Barbara Pasini; Robert M W Hofstra; M Takahashi; Giovanni Romeo
Exon structure and flanking intronic sequences of the human RET proto-oncogene.
Biochemical and biophysical research communications 1993;196(3):1288-95.
1993: Y Luo; Isabella Ceccherini; Barbara Pasini; I Matera; M P Bicocchi; V Barone; Renata Bocciardi; H Kääriäinen; D Weber; Marcella Devoto
Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease.
Human molecular genetics 1993;2(11):1803-8.
1992: G Giacomo Consalez; Jozef Gecz; C L Stayton; B Dabovic; Barbara Pasini; A Pezzolo; M P Bicocchi; M Fontes; Giovanni Romeo
Fine mapping and cloning of the breakpoint associated with Menkes syndrome in a female patient.
Genomics 1992;14(3):557-61.