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Items: 1 to 20 of 22

1.

Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

Diociaiuti A, El Hachem M, Pisaneschi E, Giancristoforo S, Genovese S, Sirleto P, Boldrini R, Angioni A.

Orphanet J Rare Dis. 2016 Jan 13;11:4. doi: 10.1186/s13023-016-0384-4.

2.

Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.

Grotta S, D'Elia G, Scavelli R, Genovese S, Surace C, Sirleto P, Cozza R, Romanzo A, De Ioris MA, Valente P, Tomaiuolo AC, Lepri FR, Franchin T, Ciocca L, Russo S, Locatelli F, Angioni A.

BMC Cancer. 2015 Nov 4;15:841. doi: 10.1186/s12885-015-1854-0.

3.

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.

Pisaneschi E, Sirleto P, Lepri FR, Genovese S, Dentici ML, Petrocchi S, Angioni A, Digilio MC, Dallapiccola B.

BMC Med Genet. 2015 Sep 3;16:78. doi: 10.1186/s12881-015-0225-7.

4.

Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia.

Mantelli M, Avanzini MA, Rosti V, Ingo DM, Conforti A, Novara F, Arrigo G, Boni M, Zappatore R, Lenta E, Moretta A, Acquafredda G, de Silvestri A, Cirillo V, Cicchetti E, Algeri M, Strocchio L, Vinti L, Starc N, Biagini S, Sirleto P, Bernasconi P, Zuffardi O, Maserati E, Maccario R, Zecca M, Locatelli F, Bernardo ME.

Br J Haematol. 2015 Sep;170(6):826-36. doi: 10.1111/bjh.13504. Epub 2015 May 26.

PMID:
26010568
5.

Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome.

Gonfiantini MV, Armando M, Pucciarini ML, Macchiaiolo M, Buonuomo PS, Diociaiuti A, Lepri FR, Sirleto P, Vicari S, Bartuli A.

Am J Med Genet A. 2015 Jul;167(7):1637-43. doi: 10.1002/ajmg.a.37041. Epub 2015 Mar 28.

PMID:
25820919
6.

Hypoplastic left heart syndrome and 21q22.3 deletion.

Ciocca L, Digilio MC, Lombardo A, D'Elia G, Baban A, Capolino R, Petrocchi S, Russo S, Sirleto P, Roberti MC, Marino B, Angioni A, Dallapiccola B.

Am J Med Genet A. 2015 Mar;167A(3):579-86. doi: 10.1002/ajmg.a.36914. Epub 2015 Feb 7. Review.

PMID:
25663264
7.

Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot.

Baban A, Postma AV, Marini M, Trocchio G, Santilli A, Pelegrini M, Sirleto P, Lerone M, Albanese SB, Barnett P, Boogerd CJ, Dallapiccola B, Digilio MC, Ravazzolo R, Pongiglione G.

Am J Med Genet A. 2014 Dec;164A(12):3100-7. doi: 10.1002/ajmg.a.36783. Epub 2014 Sep 26.

PMID:
25263169
8.

Usp7 protects genomic stability by regulating Bub3.

Giovinazzi S, Sirleto P, Aksenova V, Morozov VM, Zori R, Reinhold WC, Ishov AM.

Oncotarget. 2014 Jun 15;5(11):3728-42.

9.

Epilepsy in patients with duplications of chromosome 14 harboring FOXG1.

Pontrelli G, Cappelletti S, Claps D, Sirleto P, Ciocca L, Petrocchi S, Terracciano A, Serino D, Fusco L, Vigevano F, Specchio N.

Pediatr Neurol. 2014 May;50(5):530-5. doi: 10.1016/j.pediatrneurol.2014.01.022. Epub 2014 Jan 11. Review.

PMID:
24731847
10.

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.

Lepri FR, Scavelli R, Digilio MC, Gnazzo M, Grotta S, Dentici ML, Pisaneschi E, Sirleto P, Capolino R, Baban A, Russo S, Franchin T, Angioni A, Dallapiccola B.

BMC Med Genet. 2014 Jan 23;15:14. doi: 10.1186/1471-2350-15-14.

11.

Two novel cases of trilateral retinoblastoma: genetics and review of the literature.

D'Elia G, Grotta S, Del Bufalo F, De Ioris MA, Surace C, Sirleto P, Romanzo A, Cozza R, Locatelli F, Angioni A.

Cancer Genet. 2013 Nov;206(11):398-401. doi: 10.1016/j.cancergen.2013.11.001. Epub 2013 Nov 19. Review.

PMID:
24412019
12.

Telomere shortening and telomere position effect in mild ring 17 syndrome.

Surace C, Berardinelli F, Masotti A, Roberti MC, Da Sacco L, D'Elia G, Sirleto P, Digilio MC, Cusmai R, Grotta S, Petrocchi S, El Hachem M, Pisaneschi E, Ciocca L, Russo S, Lepri FR, Sgura A, Angioni A.

Epigenetics Chromatin. 2014 Jan 7;7(1):1. doi: 10.1186/1756-8935-7-1.

13.

Biological, functional and genetic characterization of bone marrow-derived mesenchymal stromal cells from pediatric patients affected by acute lymphoblastic leukemia.

Conforti A, Biagini S, Del Bufalo F, Sirleto P, Angioni A, Starc N, Li Pira G, Moretta F, Proia A, Contoli B, Genovese S, Ciardi C, Avanzini MA, Rosti V, Lo-Coco F, Locatelli F, Bernardo ME.

PLoS One. 2013 Nov 7;8(11):e76989. doi: 10.1371/journal.pone.0076989. eCollection 2013.

14.

High-resolution array CGH profiling identifies Na/K transporting ATPase interacting 2 (NKAIN2) as a predisposing candidate gene in neuroblastoma.

Romania P, Castellano A, Surace C, Citti A, De Ioris MA, Sirleto P, De Mariano M, Longo L, Boldrini R, Angioni A, Locatelli F, Fruci D.

PLoS One. 2013 Oct 25;8(10):e78481. doi: 10.1371/journal.pone.0078481. eCollection 2013.

15.

Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.

Ciocca L, Surace C, Digilio MC, Roberti MC, Sirleto P, Lombardo A, Russo S, Brizi V, Grotta S, Cini C, Angioni A.

BMC Med Genomics. 2013 Feb 11;6:3. doi: 10.1186/1755-8794-6-3.

16.

Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling.

Tomaiuolo AC, Sirleto P, Centrone C, Surace C, Alghisi F, Petrocchi S, Lombardo A, Rossi M, Torricelli F, Lucidi V, Angioni A.

Clin Biochem. 2011 Jul;44(10-11):799-803. doi: 10.1016/j.clinbiochem.2011.03.140. Epub 2011 Apr 22.

PMID:
21536020
17.

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.

Roberti MC, Surace C, Digilio MC, D'Elia G, Sirleto P, Capolino R, Lombardo A, Tomaiuolo AC, Petrocchi S, Angioni A.

Orphanet J Rare Dis. 2011 Apr 19;6:17. doi: 10.1186/1750-1172-6-17.

18.

Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location.

Surace C, Piazzolla S, Sirleto P, Digilio MC, Roberti MC, Lombardo A, D'Elia G, Tomaiuolo AC, Petrocchi S, Capolino R, El Hachem M, Claps Sepulveda D, Sgura A, Angioni A.

Clin Genet. 2009 Sep;76(3):256-62. doi: 10.1111/j.1399-0004.2009.01203.x.

PMID:
19793054
19.

RABGAP1L gene rearrangement resulting from a der(Y)t(Y;1)(q12;q25) in acute myeloid leukemia arising in a child with Klinefelter syndrome.

Roberti MC, La Starza R, Surace C, Sirleto P, Pinto RM, Pierini V, Crescenzi B, Mecucci C, Angioni A.

Virchows Arch. 2009 Mar;454(3):311-6. doi: 10.1007/s00428-009-0732-z. Epub 2009 Jan 28.

PMID:
19184099
20.

Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.

Sirleto P, Surace C, Santos H, Bertini E, Tomaiuolo AC, Lombardo A, Boenzi S, Bevivino E, Dionisi-Vici C, Angioni A.

Pediatr Res. 2009 Mar;65(3):347-51. doi: 10.1203/PDR.0b013e3181973b4e.

PMID:
19092723
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