Carla Olivieri
Carla Olivieri
e-mail:
affiliation: Università di Pavia
research area(s): Molecular Biology, Genetics And Genomics
Course: Genetics, Molecular and Cellular Biology
University/Istitution: Università di Pavia
Carla Olivieri was born in Salerno (20/01/1971).
Education: Graduated in Biological Science (5 years) at Università degli Studi di Milano (1997).
European Master in Molecular Medicine (1 year) at Università di Pavia (1999)
Degree of Advanced School for Integrated Studies (SAFI) (3 years) at IUSS - Università di Pavia (2000)
PhD in Human Pathology (4 years) at Università di Pavia (2001)
Degree of Specialization School in Medical Genetics (4 years) at Università di Pavia (2005)
Work experience:
Since 1997 at “Sezione di Biologia Generale e Genetica Medica” of the Molcular Medicine Dept. at Universià di Pavia, first as a post-graduated fellow, then as a PhD student, after as Specialization School Student and then as “Assegno di Ricerca” fellow.
Since December 2005, she is Researcher (SSD BIO/13-Applied Biology) at University of Pavia, Faculty of Medicine and Surgery.
She had teaching experience first as “tutor” (Psychology and Medicine and Surgery –University of Pavia), now as “Professore Aggregato” for Applied Biology Courses for Technicians (Area Sanitaria Cl. 3) and “CLS Interfacoltà” of Biotechnology. She also is teaching assistant for the course of Biology and Genetics at Medicine and Surgery Degree.
The main branch of research concerns Hereditary Hemorrhagic Telangiectasia (HHT)or Rendu-Osler-Weber Syndrome.
She is responsible of mutation analysis in HHT-related genes at the Laboratory of Medical Genetics of "Molecular Medicine Department" at University of Pavia.
She is among the researchers allowed the updating of the International HHT Mutation Database
This area of research is extending in order to evaluate the pathogenic mechanisms of this rare disease, recognized as such by the Italian Ministry of Health (RG0100), also thanks to collaborations with other groups,.
She also performed mutation analysis in WRN gene in a group of Sardinian families affected by Werner Syndrome.
She has worked on micro satellites analyses for genotype-phenotype correlations in patients with chromosomal abnormalities and has been investigating the relationship between GH administration and chromosome breakage.
The results of these studies are all published in international journals with IF
1: Buscarini E et al. Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia. Dig Dis Sci. 2011 Jul;56(7):2166-78. Epub 2011 Feb 3.
2: Scotti C, Olivieri C et al. Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain. PLoS One. 2011;6(10):e26431. Epub 2011 Oct 18.
3: Gallione C et al. Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am J Med Genet A. 2010 Feb;152A(2):333-9.
4: Rossi E et al. Immunohistochemical analysis of a merkeloma observed in a patient affected by hereditary haemorrhagic telangiectasia. BMJ Case Rep. 2010;2010. pii:bcr09.2009.2251. Epub 2010 Feb 8.
5: Gazzaniga P et al. Contrast echocardiography for pulmonary arteriovenous malformations screening: does any bubble matter? Eur J Echocardiogr. 2009 Jun;10(4):513-8. Epub 2008 Dec 17.
6: Pagella F et al.Correlation of severity of epistaxis with nasal telangiectasias in hereditary hemorrhagic telangiectasia (HHT) patients. Am J Rhinol Allergy. 2009 Jan-Feb;23(1):52-8.
7: Lesca G et al. Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients. Eur J Hum Genet. 2008 Jun;16(6):742-9. Epub 2008 Feb 20.
8: Buscarini E et al. Interobserver agreement in diagnosing liver involvement in hereditary hemorrhagic telangiectasia by Doppler ultrasound. Ultrasound Med Biol. 2008 May;34(5):718-25. Epub 2008 Jan 22.
9: Masala MV et al. Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster. Eur J Dermatol. 2007May-Jun;17(3):213-6. Epub 2007 May 4.
10: Lesca G, Olivieri C et al. Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. Genet Med. 2007 Jan;9(1):14-22.
11: Olivieri C et al. Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. J Hum Genet. 2007;52(10):820-9. Epub 2007 Sep 5.
12: Stratta P et al. Quiz page. Arterial-venous fistulas from kidney biopsies. Am J Kidney Dis. 2006 Jul;48(1):A30, e1-2.
13: Pagella F et al. Treatment of epistaxis in hereditary hemorrhagic telangiectasia patients by argon plasma coagulation with local anesthesia. Am J Rhinol. 2006 Jul-Aug;20(4):421-5.
14: Olivieri C et al. Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia. Genet Med. 2006 Mar;8(3):183-90.
15: Buscarini E et al. Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber disease. Dig Liver Dis. 2005 Sep;37(9):635-45. Review. PubMed PMID: 15923156.
16: Draghi F et al. Vascular abnormalities in the fingers of patients affected with hereditary hemorrhagic telangiectasia (HHT) as assessed by color doppler sonography. Am J Med Genet A. 2005 May
15;135(1):106-9.
17: Buscarini E et al. Doppler ultrasonographic grading of hepatic vascular malformations in hereditary hemorrhagic telangiectasia -- results of extensive screening. Ultraschall Med. 2004 Sep;25(5):348-55.
18: Buscarini E et al. High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia. Ultrasound Med Biol. 2004 Sep;30(9):1089-97.
19: Olivieri C et al. Can GH induce chromosome breaks or microsatellite instability in GH-deficient children? J Endocrinol Invest. 2004 Apr;27(4):308-10.
20: Olivieri C et al. Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. Eur J Pediatr. 2003 Feb;162(2):100-3. Epub 2002 Dec 10.
21: Olivieri C et al. Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia. J Med Genet. 2002 Jul;39(7):E39.
22: Lisi V et al. Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome. Genet Couns. 2002;13(2):163-70.
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