Larizza L - Search Results

1

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.

Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V, Poot M, Cuppen E. Kloosterman WP, et al. Among authors: larizza l. Cell Rep. 2012 Jun 28;1(6):648-55. doi: 10.1016/j.celrep.2012.05.009. Epub 2012 Jun 15. Cell Rep. 2012. PMID: 22813740 Free article.

2

Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.

Ballarati L, Recalcati MP, Bedeschi MF, Lalatta F, Valtorta C, Bellini M, Finelli P, Larizza L, Giardino D. Ballarati L, et al. Among authors: larizza l. Eur J Med Genet. 2009 Jul-Aug;52(4):218-23. doi: 10.1016/j.ejmg.2009.02.004. Epub 2009 Feb 21. Eur J Med Genet. 2009. PMID: 19236961

3

Fluorescence in situ hybridization dissection of a chronic myeloid leukemia case bearing the apparently balanced translocations (9;22)(q34;q11.2) and (11;11)(p15;q13).

Malvestiti F, Colombo D, Perego D, Rodeschini O, Finelli P, Larizza L, Giardino D. Malvestiti F, et al. Among authors: larizza l. Cancer Genet Cytogenet. 2009 Jan 1;188(1):42-7. doi: 10.1016/j.cancergencyto.2008.08.015. Cancer Genet Cytogenet. 2009. PMID: 19061779

4

A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies.

Caselli R, Ballarati L, Selicorni A, Milani D, Maitz S, Valtorta C, Larizza L, Giardino D. Caselli R, et al. Among authors: larizza l. Eur J Med Genet. 2010 Sep-Oct;53(5):325-8. doi: 10.1016/j.ejmg.2010.05.004. Epub 2010 Jun 2. Eur J Med Genet. 2010. PMID: 20621612

5

7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.

Caselli R, Ballarati L, Vignoli A, Peron A, Recalcati MP, Catusi I, Larizza L, Giardino D. Caselli R, et al. Among authors: larizza l. Eur J Med Genet. 2015 Nov;58(11):578-83. doi: 10.1016/j.ejmg.2015.08.003. Epub 2015 Aug 19. Eur J Med Genet. 2015. PMID: 26297194 Review.

6

Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.

Ballarati L, Cereda A, Caselli R, Selicorni A, Recalcati MP, Maitz S, Finelli P, Larizza L, Giardino D. Ballarati L, et al. Among authors: larizza l. Eur J Med Genet. 2011 Jan-Feb;54(1):55-9. doi: 10.1016/j.ejmg.2010.10.003. Epub 2010 Oct 20. Eur J Med Genet. 2011. PMID: 20969981 Review.

7

Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits.

Recalcati MP, Valtorta E, Romitti L, Giardino D, Manfredini E, Vaccari R, Larizza L, Finelli P. Recalcati MP, et al. Among authors: larizza l. Eur J Med Genet. 2010 Jul-Aug;53(4):186-91. doi: 10.1016/j.ejmg.2010.04.002. Epub 2010 Apr 11. Eur J Med Genet. 2010. PMID: 20388564

8

Complex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literature.

Recalcati MP, Bellini M, Norsa L, Ballarati L, Caselli R, Russo S, Larizza L, Giardino D. Recalcati MP, et al. Among authors: larizza l. Gene. 2012 Jul 1;502(1):40-5. doi: 10.1016/j.gene.2012.04.030. Epub 2012 Apr 17. Gene. 2012. PMID: 22537675 Free article. Review.

9

Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs.

Giardino D, Corti C, Ballarati L, Finelli P, Valtorta C, Botta G, Giudici M, Grosso E, Larizza L. Giardino D, et al. Among authors: larizza l. Prenat Diagn. 2006 Jun;26(6):565-70. doi: 10.1002/pd.1460. Prenat Diagn. 2006. PMID: 16683274 Review.

10

Unbalanced segregation of a complex four-break 5q23-31 insertion in the 5p13 band in a malformed child.

Giardino D, Finelli P, Amico FP, Gottardi G, Civa R, Corona G, Nocera G, Larizza L. Giardino D, et al. Among authors: larizza l. Eur J Hum Genet. 2004 Jun;12(6):455-9. doi: 10.1038/sj.ejhg.5201150. Eur J Hum Genet. 2004. PMID: 15054394 Review.

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