Pecile V - Search Results

1

Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.

Rocca MS, Faletra F, Devescovi R, Gasparini P, Pecile V. Rocca MS, et al. Among authors: pecile v. Eur J Med Genet. 2013 Jan;56(1):62-5. doi: 10.1016/j.ejmg.2012.10.008. Epub 2012 Nov 7. Eur J Med Genet. 2013. PMID: 23142270

2

De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature.

Perrone MD, Rocca MS, Bruno I, Faletra F, Pecile V, Gasparini P. Perrone MD, et al. Among authors: pecile v. Eur J Med Genet. 2012 Feb;55(2):117-9. doi: 10.1016/j.ejmg.2011.11.004. Epub 2011 Dec 2. Eur J Med Genet. 2012. PMID: 22186213

3

Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report.

Demori E, Devescovi R, Benussi DG, Dolce S, Carrozzi M, Villa N, Miertus J, Amoroso A, Pecile V. Demori E, et al. Among authors: pecile v. Am J Med Genet A. 2004 Oct 15;130A(3):288-94. doi: 10.1002/ajmg.a.20677. Am J Med Genet A. 2004. PMID: 15378554 Review.

4

Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.

Rocca MS, Fabretto A, Faletra F, Carlet O, Skabar A, Gasparini P, Pecile V. Rocca MS, et al. Among authors: pecile v. Gene. 2012 Jan 15;492(1):315-8. doi: 10.1016/j.gene.2011.10.035. Epub 2011 Oct 28. Gene. 2012. PMID: 22062632

5

De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.

Fabretto A, Santa Rocca M, Perrone MD, Skabar A, Pecile V, Gasparini P. Fabretto A, et al. Among authors: pecile v. Am J Med Genet A. 2012 Apr;158A(4):882-7. doi: 10.1002/ajmg.a.35239. Epub 2012 Mar 9. Am J Med Genet A. 2012. PMID: 22407795

6

Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis.

Faletra F, Berti I, Tommasini A, Pecile V, Cleva L, Alberini E, Bruno I, Gasparini P. Faletra F, et al. Among authors: pecile v. Dermatology. 2012;225(4):294-7. doi: 10.1159/000342884. Epub 2012 Oct 24. Dermatology. 2012. PMID: 23095783 Free article.

7

A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature.

Faletra F, Devescovi R, Pecile V, Fabretto A, Carrozzi M, Gasparini P. Faletra F, et al. Among authors: pecile v. J Appl Genet. 2011 Feb;52(1):77-80. doi: 10.1007/s13353-010-0004-2. Epub 2010 Nov 3. J Appl Genet. 2011. PMID: 21107783 No abstract available.

8

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

Athanasakis E, Licastro D, Faletra F, Fabretto A, Dipresa S, Vozzi D, Morgan A, d'Adamo AP, Pecile V, Biarnés X, Gasparini P. Athanasakis E, et al. Among authors: pecile v. Am J Med Genet A. 2014 Jan;164A(1):170-6. doi: 10.1002/ajmg.a.36274. Epub 2013 Dec 4. Am J Med Genet A. 2014. PMID: 24307393

9

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.

Rubinato E, Morgan A, D'Eustacchio A, Pecile V, Gortani G, Gasparini P, Faletra F. Rubinato E, et al. Among authors: pecile v. Gene. 2014 Jul 25;545(2):290-2. doi: 10.1016/j.gene.2014.05.028. Epub 2014 May 14. Gene. 2014. PMID: 24835313

10

Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features.

Bertok S, Žerjav Tanšek M, Kotnik P, Battelino T, Volk M, Pecile V, Cleva L, Gasparini P, Kovač J, Hovnik T. Bertok S, et al. Among authors: pecile v. Zdr Varst. 2015 Mar 13;54(2):69-73. doi: 10.1515/sjph-2015-0010. eCollection 2015 Jun. Zdr Varst. 2015. PMID: 27646910 Free PMC article.

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