Giardino D - Search Results

1

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: giardino d. 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

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: giardino d. 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

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: giardino d. 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.

4

Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.

Ballarati L, Cereda A, Caselli R, Maitz S, Russo S, Selicorni A, Larizza L, Giardino D. Ballarati L, et al. Among authors: giardino d. Eur J Med Genet. 2012 Feb;55(2):124-7. doi: 10.1016/j.ejmg.2011.12.001. Epub 2011 Dec 17. Eur J Med Genet. 2012. PMID: 22210230 Free article.

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: giardino d. 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

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: giardino d. 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

7

Genetic investigations on 8 patients affected by ring 20 chromosome syndrome.

Giardino D, Vignoli A, Ballarati L, Recalcati MP, Russo S, Camporeale N, Marchi M, Finelli P, Accorsi P, Giordano L, La Briola F, Chiesa V, Canevini MP, Larizza L. Giardino D, et al. BMC Med Genet. 2010 Oct 12;11:146. doi: 10.1186/1471-2350-11-146. BMC Med Genet. 2010. PMID: 20939888 Free PMC article.

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: giardino d. 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

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.

Ballarati L, Rossi E, Bonati MT, Gimelli S, Maraschio P, Finelli P, Giglio S, Lapi E, Bedeschi MF, Guerneri S, Arrigo G, Patricelli MG, Mattina T, Guzzardi O, Pecile V, Police A, Scarano G, Larizza L, Zuffardi O, Giardino D. Ballarati L, et al. Among authors: giardino d. J Med Genet. 2007 Jan;44(1):e60. doi: 10.1136/jmg.2006.043059. J Med Genet. 2007. PMID: 17209130 Free PMC article.

10

A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype.

Castronovo C, Rusconi D, Crippa M, Giardino D, Gervasini C, Milani D, Cereda A, Larizza L, Selicorni A, Finelli P. Castronovo C, et al. Among authors: giardino d. Am J Med Genet A. 2013 Mar;161A(3):611-8. doi: 10.1002/ajmg.a.35814. Epub 2013 Jan 22. Am J Med Genet A. 2013. PMID: 23341071

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