Giardino D - Search Results

1

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.

2

Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26).

Giardino D, Finelli P, Gottardi G, De Canal G, Della Monica M, Lonardo F, Scarano G, Larizza L. Giardino D, et al. Am J Med Genet A. 2003 Oct 15;122A(3):261-5. doi: 10.1002/ajmg.a.20287. Am J Med Genet A. 2003. PMID: 12966529

3

Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlations.

Bonati MT, Finelli P, Giardino D, Gottardi G, Roberts W, Larizza L. Bonati MT, et al. Among authors: giardino d. Am J Med Genet A. 2005 Mar 1;133A(2):184-8. doi: 10.1002/ajmg.a.30503. Am J Med Genet A. 2005. PMID: 15666303

4

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

5

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

6

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

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

Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletion.

Rusconi D, Valtorta E, Rodeschini O, Giardino D, Lorenzo I, Predieri B, Losa M, Larizza L, Finelli P. Rusconi D, et al. Among authors: giardino d. Cancer Genet. 2011 Jun;204(6):309-15. doi: 10.1016/j.cancergen.2011.03.006. Cancer Genet. 2011. PMID: 21763627 Free article.

9

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.

10

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.

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