Pierluigi M - Search Results

1

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: pierluigi 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

2

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.

Elia M, Striano P, Fichera M, Gaggero R, Castiglia L, Galesi O, Malacarne M, Pierluigi M, Amato C, Musumeci SA, Romano C, Majore S, Grammatico P, Zara F, Striano S, Faravelli F. Elia M, et al. Among authors: pierluigi m. Epilepsia. 2006 May;47(5):830-8. doi: 10.1111/j.1528-1167.2006.00522.x. Epilepsia. 2006. PMID: 16686647 Free article.

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: pierluigi 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

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: pierluigi 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

5

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: pierluigi 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

6

Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis.

Piccione M, Antona R, Salzano E, Cavani S, Malacarne M, Morreale Bubella R, Pierluigi M, Viaggi CD, Corsello G. Piccione M, et al. Among authors: pierluigi m. Am J Med Genet A. 2012 Jan;158A(1):150-4. doi: 10.1002/ajmg.a.34308. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105932

7

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: pierluigi 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.

8

A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.

Della Monica M, Lonardo F, Faravelli F, Pierluigi M, Luquetti DV, De Gregori M, Zuffardi O, Scarano G. Della Monica M, et al. Among authors: pierluigi m. Am J Med Genet A. 2007 Nov 15;143A(22):2733-7. doi: 10.1002/ajmg.a.32006. Am J Med Genet A. 2007. PMID: 17937430

9

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: pierluigi 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.

10

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: pierluigi 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

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