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Items: 22

1.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, Coppola A, Licchetta L, Franceschetti S, Suppa A, Wenger A, Mei D, Pendziwiat M, Kaya S, Delledonne M, Straussberg R, Xumerle L, Regan B, Crompton D, van Rootselaar AF, Correll A, Catford R, Bisulli F, Chakraborty S, Baldassari S, Tinuper P, Barton K, Carswell S, Smith M, Berardelli A, Carroll R, Gardner A, Friend KL, Blatt I, Iacomino M, Di Bonaventura C, Striano S, Buratti J, Keren B, Nava C, Forlani S, Rudolf G, Hirsch E, Leguern E, Labauge P, Balestrini S, Sander JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gecz J.

Nat Commun. 2019 Oct 29;10(1):4920. doi: 10.1038/s41467-019-12671-y.

2.

Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

Kurtas NE, Xumerle L, Giussani U, Pansa A, Cardarelli L, Bertini V, Valetto A, Liehr T, Clara Bonaglia M, Errichiello E, Delledonne M, Zuffardi O.

Mol Genet Genomic Med. 2019 Feb;7(2):e00496. doi: 10.1002/mgg3.496. Epub 2018 Dec 18.

3.

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Kurtas NE, Xumerle L, Leonardelli L, Delledonne M, Brusco A, Chrzanowska K, Schinzel A, Larizza D, Guerneri S, Natacci F, Bonaglia MC, Reho P, Manolakos E, Mattina T, Soli F, Provenzano A, Al-Rikabi AH, Errichiello E, Nazaryan-Petersen L, Giglio S, Tommerup N, Liehr T, Zuffardi O.

Hum Mutat. 2019 Feb;40(2):193-200. doi: 10.1002/humu.23683. Epub 2018 Nov 22.

PMID:
30412329
4.

Centrosome Linker-induced Tetraploid Segregation Errors Link Rhabdoid Phenotypes and Lethal Colorectal Cancers.

Remo A, Manfrin E, Parcesepe P, Ferrarini A, Han HS, Mickys U, Laudanna C, Simbolo M, Malanga D, Oliveira DM, Baritono E, Colangelo T, Sabatino L, Giuliani J, Molinari E, Garonzi M, Xumerle L, Delledonne M, Giordano G, Ghimenton C, Lonardo F, D'angelo F, Grillo F, Mastracci L, Viglietto G, Ceccarelli M, Colantuoni V, Scarpa A, Pancione M.

Mol Cancer Res. 2018 Sep;16(9):1385-1395. doi: 10.1158/1541-7786.MCR-18-0062. Epub 2018 May 21.

5.

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).

Kurtas N, Arrigoni F, Errichiello E, Zucca C, Maghini C, D'Angelo MG, Beri S, Giorda R, Bertuzzo S, Delledonne M, Xumerle L, Rossato M, Zuffardi O, Bonaglia MC.

J Med Genet. 2018 Apr;55(4):269-277. doi: 10.1136/jmedgenet-2017-105125. Epub 2018 Jan 29.

6.

On site DNA barcoding by nanopore sequencing.

Menegon M, Cantaloni C, Rodriguez-Prieto A, Centomo C, Abdelfattah A, Rossato M, Bernardi M, Xumerle L, Loader S, Delledonne M.

PLoS One. 2017 Oct 4;12(10):e0184741. doi: 10.1371/journal.pone.0184741. eCollection 2017.

7.

Identification of new BMP6 pro-peptide mutations in patients with iron overload.

Piubelli C, Castagna A, Marchi G, Rizzi M, Busti F, Badar S, Marchetti M, De Gobbi M, Roetto A, Xumerle L, Suku E, Giorgetti A, Delledonne M, Olivieri O, Girelli D.

Am J Hematol. 2017 Jun;92(6):562-568. doi: 10.1002/ajh.24730. Epub 2017 Apr 29.

8.

Centenarians as extreme phenotypes: An ecological perspective to get insight into the relationship between the genetics of longevity and age-associated diseases.

Giuliani C, Pirazzini C, Delledonne M, Xumerle L, Descombes P, Marquis J, Mengozzi G, Monti D, Bellizzi D, Passarino G, Luiselli D, Franceschi C, Garagnani P.

Mech Ageing Dev. 2017 Jul;165(Pt B):195-201. doi: 10.1016/j.mad.2017.02.007. Epub 2017 Feb 27. Review.

PMID:
28242236
9.

Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.

Badar S, Busti F, Ferrarini A, Xumerle L, Bozzini P, Capelli P, Pozzi-Mucelli R, Campostrini N, De Matteis G, Marin Vargas S, Giorgetti A, Delledonne M, Olivieri O, Girelli D.

Am J Hematol. 2016 Jun;91(4):420-5. doi: 10.1002/ajh.24304.

10.

IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients.

Baldan A, Lo Presti AR, Belpinati F, Castellani C, Bettin MD, Xumerle L, Pignatti PR, Malerba G, Bombieri C.

Rhinology. 2015 Dec;53(4):359-64. doi: 10.4193/Rhin14.229.

PMID:
26397160
11.

The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data.

Ferrarini A, Xumerle L, Griggio F, Garonzi M, Cantaloni C, Centomo C, Vargas SM, Descombes P, Marquis J, Collino S, Franceschi C, Garagnani P, Salisbury BA, Harvey JM, Delledonne M.

PLoS One. 2015 Jul 6;10(7):e0132180. doi: 10.1371/journal.pone.0132180. eCollection 2015.

12.

The Solanum commersonii Genome Sequence Provides Insights into Adaptation to Stress Conditions and Genome Evolution of Wild Potato Relatives.

Aversano R, Contaldi F, Ercolano MR, Grosso V, Iorizzo M, Tatino F, Xumerle L, Dal Molin A, Avanzato C, Ferrarini A, Delledonne M, Sanseverino W, Cigliano RA, Capella-Gutierrez S, Gabaldón T, Frusciante L, Bradeen JM, Carputo D.

Plant Cell. 2015 Apr;27(4):954-68. doi: 10.1105/tpc.114.135954. Epub 2015 Apr 14.

13.

Next generation sequencing: new tools in immunology and hematology.

Mori A, Deola S, Xumerle L, Mijatovic V, Malerba G, Monsurrò V.

Blood Res. 2013 Dec;48(4):242-9. doi: 10.5045/br.2013.48.4.242. Epub 2013 Dec 24. Review.

14.

Wheat IgE profiling and wheat IgE levels in bakers with allergic occupational phenotypes.

Olivieri M, Biscardo CA, Palazzo P, Pahr S, Malerba G, Ferrara R, Zennaro D, Zanoni G, Xumerle L, Valenta R, Mari A.

Occup Environ Med. 2013 Sep;70(9):617-22. doi: 10.1136/oemed-2012-101112. Epub 2013 May 17.

PMID:
23685986
15.

Imputation reliability on DNA biallelic markers for drug metabolism studies.

Mijatovic V, Iacobucci I, Sazzini M, Xumerle L, Mori A, Pignatti PF, Martinelli G, Malerba G.

BMC Bioinformatics. 2012;13 Suppl 14:S7. doi: 10.1186/1471-2105-13-S14-S7. Epub 2012 Sep 7.

16.

Application of the whole-transcriptome shotgun sequencing approach to the study of Philadelphia-positive acute lymphoblastic leukemia.

Iacobucci I, Ferrarini A, Sazzini M, Giacomelli E, Lonetti A, Xumerle L, Ferrari A, Papayannidis C, Malerba G, Luiselli D, Boattini A, Garagnani P, Vitale A, Soverini S, Pane F, Baccarani M, Delledonne M, Martinelli G.

Blood Cancer J. 2012 Mar;2(3):e61. doi: 10.1038/bcj.2012.6. Epub 2012 Mar 9.

17.

The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families.

Prandini P, Pasquali A, Malerba G, Marostica A, Zusi C, Xumerle L, Muglia P, Da Ros L, Ratti E, Trabetti E, Pignatti PF; Italian Autism Network (ITAN).

Psychiatr Genet. 2012 Aug;22(4):177-81. doi: 10.1097/YPG.0b013e32835185c9.

PMID:
22739633
18.

Association of childhood allergic asthma with markers flanking the IL33 gene in Italian families.

Belpinati F, Malerba G, Trabetti E, Galavotti R, Xumerle L, Pescollderungg L, Boner AL, Pignatti PF.

J Allergy Clin Immunol. 2011 Sep;128(3):667-8. doi: 10.1016/j.jaci.2011.05.004. Epub 2011 Jul 29. No abstract available.

PMID:
21802127
19.

Characterization of transcriptional complexity during berry development in Vitis vinifera using RNA-Seq.

Zenoni S, Ferrarini A, Giacomelli E, Xumerle L, Fasoli M, Malerba G, Bellin D, Pezzotti M, Delledonne M.

Plant Physiol. 2010 Apr;152(4):1787-95. doi: 10.1104/pp.109.149716. Epub 2010 Jan 29.

20.

Fully non-homogeneous hidden Markov model double net: a generative model for haplotype reconstruction and block discovery.

Perina A, Cristani M, Xumerle L, Murino V, Pignatti PF, Malerba G.

Artif Intell Med. 2009 Feb-Mar;45(2-3):135-50. doi: 10.1016/j.artmed.2008.08.015. Epub 2008 Oct 23.

PMID:
18950995
21.

SNPs of the FADS gene cluster are associated with polyunsaturated fatty acids in a cohort of patients with cardiovascular disease.

Malerba G, Schaeffer L, Xumerle L, Klopp N, Trabetti E, Biscuola M, Cavallari U, Galavotti R, Martinelli N, Guarini P, Girelli D, Olivieri O, Corrocher R, Heinrich J, Pignatti PF, Illig T.

Lipids. 2008 Apr;43(4):289-99. doi: 10.1007/s11745-008-3158-5. Epub 2008 Mar 5.

PMID:
18320251
22.

Chromosome 7p linkage and GPR154 gene association in Italian families with allergic asthma.

Malerba G, Lindgren CM, Xumerle L, Kiviluoma P, Trabetti E, Laitinen T, Galavotti R, Pescollderungg L, Boner AL, Kere J, Pignatti PF.

Clin Exp Allergy. 2007 Jan;37(1):83-9.

PMID:
17210045

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