Export 12 results:
Autore Titolo Tipo [ Anno(Asc)]
Filtri: First Letter Of Last Name è P and Autore is Pecile, Vanna  [Clear All Filters]
2018
Bonaglia MClara, Kurtas NEdibe, Errichiello E, Bertuzzo S, Beri S, Mehrjouy MM, Provenzano A, Vergani D, Pecile V, Novara F, Reho P, Di Giacomo MCarmela, Discepoli G, Giorda R, Aldred MA, Santos-Rebouças CBarros, Goncalves APereira, Abuelo DN, Giglio S, Ricca I, Franchi F, Patsalis P, Sismani C, Morí MAngeles, Nevado J, Tommerup N, Zuffardi O. De novo unbalanced translocations have a complex history/aetiology. Hum Genet 2018;137(10):817-829.
Colombo EA, Locatelli A, Sánchez LCubells, Romeo S, Elcioglu NH, Maystadt I, Martínez AEsteve, Sironi A, Fontana L, Finelli P, Gervasini C, Pecile V, Larizza L. Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome. Int J Mol Sci 2018;19(4)
2017
Travan L, Naviglio S, De Cunto A, Pellegrin A, Pecile V, Spinelli AMauro, Cappellani S, Faletra F. Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature. Am J Med Genet A 2017;
2016
Quadrifoglio M, Faletra F, Bussani R, Pecile V, Zennaro F, Grasso A, Zandonà L, Alberico S, Stampalija T. A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome. J Ultrasound Med 2016;35(6):1359-61.
Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MTeresa, Melis D, Manfredini E, Ferrero GBattista, Pecile V, Larizza L. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. Clin Epigenetics 2016;8:23.
2015
Travan L, Rocca MSanta, Buonomo F, Cleva L, Pecile V, De Cunto A. When Feeding Difficulties Are due to Genetics: The Case of Familial Partial 9q Duplication. J Investig Med High Impact Case Rep 2015;3(1):2324709615574949.
2014
Athanasakis E, Licastro D, Faletra F, Fabretto A, Dipresa S, Vozzi D, Morgan A, d'Adamo AP, Pecile V, Biarnés X, Gasparini P. Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. Am J Med Genet A 2014;164A(1):170-6.
Rubinato E, Morgan A, D'Eustacchio A, Pecile V, Gortani G, Gasparini P, Faletra F. A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta. Gene 2014;545(2):290-2.
2012
Rocca MSanta, Fabretto A, Faletra F, Carlet O, Skabar A, Gasparini P, Pecile V. Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12. Gene 2012;492(1):315-8.
Fabretto A, Rocca MSanta, Perrone MDolores, Skabar A, Pecile V, Gasparini P. De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features. Am J Med Genet A 2012;158A(4):882-7.
Faletra F, d'Adamo APio, Rocca MSanta, Carrozzi M, Perrone MDolores, Pecile V, Gasparini P. Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature. Am J Med Genet A 2012;158A(2):461-4.
2011
Faletra F, Devescovi R, Pecile V, Fabretto A, Carrozzi M, Gasparini P. A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature. J Appl Genet 2011;52(1):77-80.

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