Pubblicazioni

S.S.D. U.O. a direzione universitaria Genetica medica

2020

2019

2018

2016

2015

2014

2013

2012

2011

2010

 

2009

2008

2007

  • Forzano F, Mansour S, Ierullo A, Homfray T, Thilaganathan B. Posterior fossa malformation in fetuses: a report of 56 further cases and a review of the literature. Prenat Diagn. 27(6),495-501  (2007)
  • Faravelli F, Murdolo M, Marangi G, Dagna-Bricarelli F, Di Rocco M, Zollino M. Mother to son amplification of a small subtelomeric deletion: a new mechanism of  familial recurrence in microdeletion syndromes. Am J Med Genet A. 143(11):1169-73 (2007)
  • Zollino M, Lecce R, Murdolo M, Orteschi D, Marangi G, Selicorni A, Midro A, Sorge G, Zampino G, Memo L, Battaglia D, Petersen M, Pandelia E, Gyftodimou Y, Faravelli F, Tenconi R, Garavelli L, Mazzanti L, Fischetto R, Cavalli P, Savasta S, Rodriguez L, Neri G. Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16. Hum Genet. 122(5),423-30 (2007)
  • Della Monica M, Lonardo F, Faravelli F, Pierluigi M, Luquetti DV, De Gregori M, Zuffardi O, Scarano G. A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q. Am J Med Genet A. 143(22)2733-7(2007)
  • Forzano F, Lituania M, Viassolo A, Superti-Furga V, Wildhardt G, Zabel B, Faravelli F. A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father. Am J Med Genet A. 143A(23),2815-2820 (2007)
  • Gervasini C, Castronovo P, Bentivegna A, Mottadelli F, Faravelli F, Giovannucci-Uzielli ML, Pessagno A, Lucci-Cordisco E, Pinto AM, Salviati L, Selicorni A, Tenconi R, Neri G, Larizza L. High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. Genomics. 90(5), 567-73 (2007)
  • Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormier-Daire V, Cole T, The Childhood Overgrowth Collaboration (includes F.Forzano) and Rahman N. "Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth" Nature Genetics, 39(8),963-5 (2007)
  • Foppiani L, Del Monte P, Faravelli F, de Sanctis L, Marugo A, Bernasconi D. Clinical heterogeneity of familial pseudohypoparathyroidism.
    J Endocrinol Invest. 2006 Jan;29(1):94-6

2006

  • Ferrero GB, Belligni E, Sorasio L, Delmonaco AG, Oggero R, Faravelli F, Pierluigi M, Silengo M.
    Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.
    Am J Med Genet A. 2006 Apr 15;140(8):892-4
  • Perroni L, Faravelli F, Cusano R, Forzano F, De Cassan P, Baldo C, Dagna Bricarelli F.
    Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal diagnosis
    Prenatal Diagnosis, 2006 May;26(5):487-9
  • Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC.
    Aneurysm syndromes caused by mutations in the TGF-beta receptor.
    N Engl J Med. 2006 Aug 24;355(8):788-98
  • Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, Colapietro P, Giordano L, Atzeri F, Divizia MT, Uzielli ML, Neri G, Bedeschi MF, Faravelli F, Selicorni A, Larizza L.
    Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
    BMC Med Genet. 2006 Oct 19;7:77
  • Viassolo V, Lituania M, Marasini M, Dietz H, Benelli F, Forzano F, Faravelli F.
    Fetal aortic root dilation: a prenatal feature of the Loeys-Dietz syndrome.
    Prenat Diagn. 2006 Nov;26(11):1081-3

2005

  • Laumonnier F, Holbert S, Ronce N, Faravelli F, Lenzner S, Schwartz CE, Lespinasse J, Van Esch H, Lacombe D, Goizet C, Phan-Dinh Tuy F, van Bokhoven H, Fryns JP, Chelly J, Ropers HH, Moraine C, Hamel BC, Briault S. Mutations in PHF8 are associated with X linked mental retardation and cleft ip/cleft palate. J Med Genet. 2005; 42(10):780-6
  • Faravelli F. NSD1 mutations in Sotos syndrome. Am J Med Genet C Semin Med Genet. 2005 15;137(1):24-31
  • D'Arrigo S, Grazia BM, Faravelli F, Riva D, Pantaleoni C. Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy(PEHO)-like syndrome: what diagnostic characteristics are defining? J Child Neurol. 2005; 20(5):454-6
  • Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N, Childhood Overgrowth Collaboration. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005; 77(2):193-204
  • Pastorino L, Cusano R, Baldo C, Forzano F, Nasti S, Di Rocco M, Carta M, Bricarelli FD, Faravelli F, Scarra GB. Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis. Child Care Health Dev. 2005; 31(3):351-4
  • Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer GB, Splitt M, Temple IK, Waggoner D, Weaver DD, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N. Childhood Overgrowth Collaboration. Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. J Med Genet. 2005 Apr;42(4):307-13
  • Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. Am J Med Genet A. 2005 30;134(3):247-53
  • Pastorino L, Cusano R, Nasti S, Faravelli F, Forzano F, Baldo C, Barile M, Gliori S, Muggianu M, Ghigliotti G, Lacaita MG, Lo Muzio L, Bianchi-Scarra G.  Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. Hum Mutat. 2005 25(3):322-3
  • Forzano F, P.E.F. Daubeney, S.M White "Midline raphe, sternal cleft, and other midline abnormalities: A new dominant syndrome?" American Journal of Medical Genetics, /2005, 15, 135A:9-12
  • Forzano F, P.E.F. Daubeney, S.M White "Midline raphe, sternal cleft, and other midline abnormalities: A new dominant syndrome?" (Am J Med Genet 135A:9-12). Am J Med Genet A. 2005 15;136A(2):227

2004

  • Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M,Rossi E, Tenconi R, Nordenskjold M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID. Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Am J Med Genet A. 2004;1;128(4):340-51
  • Forzano F, Faravelli F, Di Rocco M. Cerebro-fronto-facial syndrome: report of a further case. Clin Dysmorphol. 2004; 13(2):121-2
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