Malacarne M - Search Results

1

Pure segmental trisomy 1q42-qter in a boy with a severe phenotype.

Percesepe A, Lugli L, Pierluigi M, Cavani S, Malacarne M, Roversi MF, Ferrari F, Forabosco A. Percesepe A, et al. Among authors: malacarne m. Am J Med Genet A. 2007 Oct 1;143A(19):2339-42. doi: 10.1002/ajmg.a.31890. Am J Med Genet A. 2007. PMID: 17702013 No abstract available.

2

Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.

Striano P, Malacarne M, Cavani S, Pierluigi M, Rinaldi R, Cavaliere ML, Rinaldi MM, De Bernardo C, Coppola A, Pintaudi M, Gaggero R, Grammatico P, Striano S, Dallapiccola B, Zara F, Faravelli F. Striano P, et al. Among authors: malacarne m. Am J Med Genet A. 2006 Sep 15;140(18):1944-9. doi: 10.1002/ajmg.a.31435. Am J Med Genet A. 2006. PMID: 16906558

3

10qter deletion: a new case.

Piccione M, Antona V, Piro E, Cavani S, Malacarne M, Pierluigi M, Corsello G. Piccione M, et al. Among authors: malacarne m. Am J Med Genet A. 2008 Sep 15;146A(18):2435-8. doi: 10.1002/ajmg.a.32467. Am J Med Genet A. 2008. PMID: 18698621 No abstract available.

4

Array CGH defined interstitial deletion on chromosome 14: a new case.

Piccione M, Antona V, Scavone V, Malacarne M, Pierluigi M, Grasso M, Corsello G. Piccione M, et al. Among authors: malacarne m. Eur J Pediatr. 2010 Jul;169(7):845-51. doi: 10.1007/s00431-009-1128-4. Epub 2010 Jan 21. Eur J Pediatr. 2010. PMID: 20087602

5

Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features.

Piccione M, Antona V, Antona R, Gambino G, Pierluigi M, Malacarne M, Cavani S, Corsello G. Piccione M, et al. Among authors: malacarne m. Am J Med Genet A. 2010 Feb;152A(2):486-9. doi: 10.1002/ajmg.a.33212. Am J Med Genet A. 2010. PMID: 20101695 No abstract available.

6

The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment.

Cocchella A, Malacarne M, Forzano F, Marciano C, Pierluigi M, Perroni L, Faravelli F, Di Maria E. Cocchella A, et al. Among authors: malacarne m. Am J Med Genet B Neuropsychiatr Genet. 2010 Oct 5;153B(7):1342-6. doi: 10.1002/ajmg.b.31107. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20552675

7

FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother.

Cavani S, Prontera P, Grasso M, Ardisia C, Malacarne M, Gradassi C, Cecconi M, Mencarelli A, Donti E, Pierluigi M. Cavani S, et al. Among authors: malacarne m. Am J Med Genet A. 2011 Jan;155A(1):221-4. doi: 10.1002/ajmg.a.33515. Epub 2010 Dec 10. Am J Med Genet A. 2011. PMID: 21204236 No abstract available.

8

A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay.

Lugli L, Malacarne M, Cavani S, Pierluigi M, Ferrari F, Percesepe A. Lugli L, et al. Among authors: malacarne m. J Appl Genet. 2011 Aug;52(3):335-9. doi: 10.1007/s13353-011-0033-5. Epub 2011 Mar 3. J Appl Genet. 2011. PMID: 21369844

9

The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication.

Piccione M, Vecchio D, Cavani S, Malacarne M, Pierluigi M, Corsello G. Piccione M, et al. Among authors: malacarne m. Am J Med Genet A. 2011 Dec;155A(12):3054-9. doi: 10.1002/ajmg.a.34275. Epub 2011 Oct 14. Am J Med Genet A. 2011. PMID: 22002912

10

Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders.

Piccione M, Sanfilippo C, Cavani S, Salatiello P, Malacarne M, Pierluigi M, Fichera M, Luciano D, Corsello G. Piccione M, et al. Among authors: malacarne m. J Genet. 2011 Dec;90(3):473-7. doi: 10.1007/s12041-011-0096-4. J Genet. 2011. PMID: 22227935 Free article. No abstract available.

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