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Items: 1 to 50 of 92

1.

Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration.

Murray A, Letourneau A, Canzonetta C, Stathaki E, Gimelli S, Sloan-Bena F, Abrehart R, Goh P, Lim S, Baldo C, Dagna-Bricarelli F, Hannan S, Mortensen M, Ballard D, Syndercombe Court D, Fusaki N, Hasegawa M, Smart TG, Bishop C, Antonarakis SE, Groet J, Nizetic D.

Stem Cells. 2015 Jun;33(6):2077-84. doi: 10.1002/stem.1968.

2.

The policy of public health genomics in Italy.

Simone B, Mazzucco W, Gualano MR, Agodi A, Coviello D, Dagna Bricarelli F, Dallapiccola B, Di Maria E, Federici A, Genuardi M, Varesco L, Ricciardi W, Boccia S; GENISAP Network.

Health Policy. 2013 May;110(2-3):214-9. doi: 10.1016/j.healthpol.2013.01.015. Epub 2013 Mar 5.

PMID:
23466031
3.

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.

Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, Traverso M, Pezzella M, Belcastro V, Bianchi A, Elia M, Falace A, Gazzerro E, Ferlazzo E, Freri E, Galasso R, Gobbi G, Molinatto C, Cavani S, Zuffardi O, Striano S, Ferrero GB, Silengo M, Cavaliere ML, Benelli M, Magi A, Piccione M, Dagna Bricarelli F, Coviello DA, Fichera M, Minetti C, Zara F.

Arch Neurol. 2012 Mar;69(3):322-30. doi: 10.1001/archneurol.2011.1999. Epub 2011 Nov 14. Review.

4.

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.

Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F.

Am J Hum Genet. 2010 Sep 10;87(3):365-70. doi: 10.1016/j.ajhg.2010.07.020. Epub 2010 Aug 19.

5.

Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome.

De Vita S, Canzonetta C, Mulligan C, Delom F, Groet J, Baldo C, Vanes L, Dagna-Bricarelli F, Hoischen A, Veltman J, Fisher EM, Tybulewicz VL, Nizetic D.

Oncogene. 2010 Nov 18;29(46):6102-14. doi: 10.1038/onc.2010.351. Epub 2010 Aug 9.

6.

Tumour angiogenesis is reduced in the Tc1 mouse model of Down's syndrome.

Reynolds LE, Watson AR, Baker M, Jones TA, D'Amico G, Robinson SD, Joffre C, Garrido-Urbani S, Rodriguez-Manzaneque JC, Martino-Echarri E, Aurrand-Lions M, Sheer D, Dagna-Bricarelli F, Nizetic D, McCabe CJ, Turnell AS, Kermorgant S, Imhof BA, Adams R, Fisher EM, Tybulewicz VL, Hart IR, Hodivala-Dilke KM.

Nature. 2010 Jun 10;465(7299):813-7. doi: 10.1038/nature09106. Erratum in: Nature. 2010 Jul 15;466(7304):398.

7.

Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.

Cecconi M, Forzano F, Garavelli L, Pantaleoni C, Grasso M, Dagna Bricarelli F, Perroni L, Di Maria E, Faravelli F.

Am J Med Genet A. 2008 Dec 1;146A(23):3095-9. doi: 10.1002/ajmg.a.32568. No abstract available.

PMID:
19006215
8.

Quantitative proteomics characterization of a mouse embryonic stem cell model of Down syndrome.

Wang Y, Mulligan C, Denyer G, Delom F, Dagna-Bricarelli F, Tybulewicz VL, Fisher EM, Griffiths WJ, Nizetic D, Groet J.

Mol Cell Proteomics. 2009 Apr;8(4):585-95. doi: 10.1074/mcp.M800256-MCP200. Epub 2008 Nov 10.

9.

The Italian external quality assessment scheme in classical cytogenetics: four years of activity.

Floridia G, Falbo V, Censi F, Tosto F, Salvatore M, Baroncini A, Battaglia P, Conti A, Donti E, La Starza R, Nitsch L, Pierluigi M, Piombo G, Susca F, Mancini M, Mecucci C, Calzolari E, Dagna Bricarelli F, Guanti G, Taruscio D.

Community Genet. 2008;11(5):295-303. doi: 10.1159/000121401. Epub 2008 May 20.

PMID:
18493128
10.

A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.

Cecconi M, Forzano F, Rinaldi R, Cappellacci S, Grammatico P, Faravelli F, Dagna Bricarelli F, Di Maria E, Grasso M.

J Mol Diagn. 2008 May;10(3):272-5. doi: 10.2353/jmoldx.2008.070163. Epub 2008 Apr 10.

11.

Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling.

Viassolo V, Previtali SC, Schiatti E, Magnani G, Minetti C, Zara F, Grasso M, Dagna-Bricarelli F, Di Maria E.

Clin Genet. 2008 Jul;74(1):54-60. doi: 10.1111/j.1399-0004.2008.00984.x. Epub 2008 Mar 12.

PMID:
18341608
12.

Clinical scale ex vivo expansion of cord blood-derived outgrowth endothelial progenitor cells is associated with high incidence of karyotype aberrations.

Corselli M, Parodi A, Mogni M, Sessarego N, Kunkl A, Dagna-Bricarelli F, Ibatici A, Pozzi S, Bacigalupo A, Frassoni F, Piaggio G.

Exp Hematol. 2008 Mar;36(3):340-9. Epub 2007 Dec 21.

PMID:
18082308
13.

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.

Prandini P, Deutsch S, Lyle R, Gagnebin M, Delucinge Vivier C, Delorenzi M, Gehrig C, Descombes P, Sherman S, Dagna Bricarelli F, Baldo C, Novelli A, Dallapiccola B, Antonarakis SE.

Am J Hum Genet. 2007 Aug;81(2):252-63. Epub 2007 Jun 20.

14.

Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome.

De Vita S, Mulligan C, McElwaine S, Dagna-Bricarelli F, Spinelli M, Basso G, Nizetic D, Groet J.

Br J Haematol. 2007 May;137(4):337-41.

PMID:
17456055
15.

Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG.

J Clin Invest. 2006 Jun;116(6):1713-22.

16.

Genetic testing in Italy, year 2004.

Dallapiccola B, Torrente I, Morena A, Dagna-Bricarelli F, Mingarelli R.

Eur J Hum Genet. 2006 Aug;14(8):911-6. Epub 2006 May 24.

17.

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal mutation testing.

Perroni L, Faravelli F, Cusano R, Forzano F, De Cassan P, Baldo C, Dagna Bricarelli F.

Prenat Diagn. 2006 May;26(5):487-9. No abstract available.

PMID:
16652396
18.

A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer's disease.

Pantieri R, Pardini M, Cecconi M, Dagna-Bricarelli F, Vitali A, Piccini A, Russo R, Borghi R, Tabaton M.

Neurol Sci. 2005 Dec;26(5):349-50.

PMID:
16388371
19.

Independent clones at separable stages of differentiation, bearing different GATA1 mutations, in the same TMD patient with Down syndrome.

Groet J, Mulligan C, Spinelli M, Serra A, McElwaine S, Cotter FE, Dagna-Bricarelli F, Saglio G, Basso G, Nizetic D.

Blood. 2005 Sep 1;106(5):1887-8. No abstract available.

20.

Plasma levels of amyloid beta-protein 42 are increased in women with mild cognitive impairment.

Assini A, Cammarata S, Vitali A, Colucci M, Giliberto L, Borghi R, Inglese ML, Volpe S, Ratto S, Dagna-Bricarelli F, Baldo C, Argusti A, Odetti P, Piccini A, Tabaton M.

Neurology. 2004 Sep 14;63(5):828-31.

PMID:
15365131
21.

Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey.

Sensi A, Cavani S, Villa N, Pomponi MG, Fogli A, Gualandi F, Grasso M, Sala E, Pietrobono R, Baldinotti F, Savin E, Ferlini A, Cecconi M, Rossi S, Gallone S, Bellini C, Neri G, Martinoli E, Simi P, Dalprà L, Genuardi M, Dagna-Bricarelli F, Calzolari E.

Prenat Diagn. 2004 Aug;24(8):647-52.

PMID:
15305356
22.

Microarray transcript profiling distinguishes the transient from the acute type of megakaryoblastic leukaemia (M7) in Down's syndrome, revealing PRAME as a specific discriminating marker.

McElwaine S, Mulligan C, Groet J, Spinelli M, Rinaldi A, Denyer G, Mensah A, Cavani S, Baldo C, Dagna-Bricarelli F, Hann I, Basso G, Cotter FE, Nizetic D.

Br J Haematol. 2004 Jun;125(6):729-42.

PMID:
15180862
23.

Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations.

Cavani S, Perfumo C, Faravelli F, Malacarne M, Sogliani M, Piombo G, Zerega G, Zucca M, Dagna Bricarelli F, Pierluigi M.

Prenat Diagn. 2003 Oct;23(10):819-23.

PMID:
14558026
24.

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, Capovilla G, Chiron C, Cristofori G, Elia M, Fontana E, Gaggero R, Granata T, Guerrini R, Loi M, La Selva L, Lispi ML, Matricardi A, Romeo A, Tzolas V, Valseriati D, Veggiotti P, Vigevano F, Vallée L, Dagna Bricarelli F, Bianchi A, Zara F.

Neurology. 2003 Jun 24;60(12):1961-7.

PMID:
12821740
25.

Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder.

Groet J, McElwaine S, Spinelli M, Rinaldi A, Burtscher I, Mulligan C, Mensah A, Cavani S, Dagna-Bricarelli F, Basso G, Cotter FE, Nizetic D.

Lancet. 2003 May 10;361(9369):1617-20.

PMID:
12747884
26.

No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy.

Madia F, Gennaro E, Cecconi M, Buti D, Capovilla G, Dalla Bernardina B, Elia M, Ferrari A, Fontana E, Gaggero R, Giannotta M, Giordano L, Granata T, La Selva L, Luisa Lispi M, Santucci M, Vanadia F, Veggiotti P, Vigliano P, Viri M, Dagna Bricarelli F, Bianchi A, Zara F.

Epilepsy Res. 2003 Mar;53(3):196-200.

PMID:
12694927
27.

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations.

Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco M, Faravelli F, Dagna Bricarelli F, Bonaglia M, Bedeschi M, Borgatti R.

J Med Genet. 2001 Jun;38(6):417-20. No abstract available.

28.

Plasma levels of amyloid beta 40 and 42 are independent from ApoE genotype and mental retardation in Down syndrome.

Cavani S, Tamaoka A, Moretti A, Marinelli L, Angelini G, Di Stefano S, Piombo G, Cazzulo V, Matsuno S, Shoji S, Furiya Y, Zaccheo D, Dagna-Bricarelli F, Tabaton M, Mori H.

Am J Med Genet. 2000 Nov 27;95(3):224-8.

PMID:
11102927
29.

Psychomotor development in Cri du Chat Syndrome.

Cerruti Mainardi P, Guala A, Pastore G, Pozzo G, Dagna Bricarelli F, Pierluigi M.

Clin Genet. 2000 Jun;57(6):459-61. No abstract available. Erratum in: Clin Genet 2000 Aug;58(2):156.

PMID:
10905669
30.

FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes.

Giardino D, Bettio D, Gottardi G, Rizzi N, Pierluigi M, Perfumo C, Calì A, Dagna Bricarelli F, Larizza L.

Am J Med Genet. 1999 Jun 4;84(4):377-80.

PMID:
10340656
31.

Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome.

Di Rocco M, Arslanian A, Romanengo M, Dagna-Bricarelli F, Borrone C.

J Med Genet. 1999 Feb;36(2):159-60.

32.

Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q.

Cavani S, Perfumo C, Argusti A, Pierluigi M, Perroni L, Schmiegelow K, Petersen MB, Cotter FE, Strigini P, Dagna-Bricarelli F, Nizetić D.

Br J Haematol. 1998 Oct;103(1):213-6.

PMID:
9792310
33.

Increased levels of a chromosome 21-encoded tumour invasion and metastasis factor (TIAM1) mRNA in bone marrow of Down syndrome children during the acute phase of AML(M7).

Ives JH, Dagna-Bricarelli F, Basso G, Antonarakis SE, Jee R, Cotter F, Nizetić D.

Genes Chromosomes Cancer. 1998 Sep;23(1):61-6.

PMID:
9713998
34.

Early glycoxidation damage in brains from Down's syndrome.

Odetti P, Angelini G, Dapino D, Zaccheo D, Garibaldi S, Dagna-Bricarelli F, Piombo G, Perry G, Smith M, Traverso N, Tabaton M.

Biochem Biophys Res Commun. 1998 Feb 24;243(3):849-51.

PMID:
9501012
35.

Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene.

Savoia A, Piemontese MR, Savino M, Zatterale A, Pronk J, Arwert F, Joenje H, Ramenghi U, Dagna-Bricarelli F, Dallapiccola B, Zelante L.

Hum Genet. 1997 Jan;99(1):93-7.

PMID:
9003502
36.

Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe.

Grasso M, Perroni L, Dagna-Bricarelli F, Rinaldi A, Robledo R, Siniscalco M, Filippi G.

Am J Med Genet. 1996 Aug 9;64(2):283-6.

PMID:
8844066
37.

Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity.

Chiurazzi P, Genuardi M, Kozak L, Giovannucci-Uzielli ML, Bussani C, Dagna-Bricarelli F, Grasso M, Perroni L, Sebastio G, Sperandeo MP, Oostra BA, Neri G.

Am J Med Genet. 1996 Jul 12;64(1):209-15.

PMID:
8826478
38.

Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: a study of 87 families.

Perroni L, Grasso M, Argusti A, Lo Nigro C, Croci GF, Zelante L, Garani GP, Dagna Bricarelli F.

Am J Med Genet. 1996 Jul 12;64(1):176-80.

PMID:
8826470
39.

Maternal uniparental disomy for chromosome 14.

Coviello DA, Panucci E, Mantero MM, Perfumo C, Guelfi M, Borrone C, Dagna Bricarelli F.

Acta Genet Med Gemellol (Roma). 1996;45(1-2):169-72.

PMID:
8872027
40.

An improved method for the detection of Down's syndrome aneuploidy in uncultured amniocytes.

Pierluigi M, Perfumo C, Cavani S, Lehrach H, Nizetic D, Dagna Bricarelli FD.

Clin Genet. 1996 Jan;49(1):32-6.

PMID:
8721569
41.

Presence of soluble amyloid beta-peptide precedes amyloid plaque formation in Down's syndrome.

Teller JK, Russo C, DeBusk LM, Angelini G, Zaccheo D, Dagna-Bricarelli F, Scartezzini P, Bertolini S, Mann DM, Tabaton M, Gambetti P.

Nat Med. 1996 Jan;2(1):93-5.

PMID:
8564851
42.

[In situ ++hybridization with painting probes in the definition of reciprocal translocations].

Pierluigi M, Perfumo C, Arslanian A, Giannotti A, Dagna Bricarelli F.

Pathologica. 1994 Feb;86(1):106-9. Italian.

PMID:
8072796
43.

Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: II. Neuropsychological and behavioral data.

Cianchetti C, Filippi G, Sannio-Fancello G, Fratta AL, Marrosu MG, Dagna-Bricarelli F, Siniscalco M.

Am J Med Genet. 1992 Apr 15-May 1;43(1-2):103-10.

PMID:
1605176
44.

Premutation for the Martin-Bell syndrome analyzed in a large pedigree segregating also for G6PD-deficiency. I: A working hypothesis on the nature of the FRAX-mutations.

Filippi G, Arslanian A, Dagna-Bricarelli F, Pierluigi M, Grasso M, Rinaldi A, Rocchi M, Siniscalco M.

Am J Med Genet. 1991 Sep 15;40(4):387-94.

PMID:
1746598
45.

No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia.

Ebensperger C, Jäger RJ, Lattermann U, Dagna Bricarelli F, Keutel J, Lindsten J, Rehder H, Müller U, Wolf U.

Ann Genet. 1991;34(3-4):233-8.

PMID:
1809232
46.

LAK activity is inducible in blood mononuclear cells from human fetus.

Cossarizza A, Monti D, Dagna-Bricarelli F, Montagnani G, Franceschi C.

Immunol Lett. 1990 May;24(2):137-40.

PMID:
2141323
47.

Effect of x-rays on chromosome 21 nondisjunction.

Strigini P, Pierluigi M, Forni GL, Sansone R, Carobbi S, Grasso M, Dagna Bricarelli F.

Am J Med Genet Suppl. 1990;7:155-9.

PMID:
2149939
48.

Crossing over and chromosome 21 nondisjunction: a study of 60 families.

Perroni L, Dagna Bricarelli F, Grasso M, Pierluigi M, Baldi M, Pedemonte C, Strigini P.

Am J Med Genet Suppl. 1990;7:141-7.

PMID:
1981474
49.

Origin of extra chromosome 21 in 343 families: cytogenetic and molecular approaches.

Dagna Bricarelli F, Pierluigi M, Grasso M, Strigini P, Perroni L.

Am J Med Genet Suppl. 1990;7:129-32.

PMID:
1981472
50.

Isochromosome not translocation in trisomy 21q21q.

Grasso M, Giovannucci Uzielli ML, Pierluigi M, Tavellini F, Perroni L, Dagna Bricarelli F.

Hum Genet. 1989 Dec;84(1):63-5.

PMID:
2532615

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