Pierluigi M - Search Results

1

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

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: 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

3

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

4

Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.

Ferrero GB, Belligni E, Sorasio L, Delmonaco AG, Oggero R, Faravelli F, Pierluigi M, Silengo M. Ferrero GB, et al. Among authors: pierluigi m. Am J Med Genet A. 2006 Apr 15;140(8):892-4. doi: 10.1002/ajmg.a.31188. Am J Med Genet A. 2006. PMID: 16532464

5

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F. Cecconi M, et al. Among authors: pierluigi m. Am J Med Genet A. 2005 Apr 30;134(3):247-53. doi: 10.1002/ajmg.a.30492. Am J Med Genet A. 2005. PMID: 15742365

6

Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.

Piccione M, Piro E, Serraino F, Cavani S, Ciccone R, Malacarne M, Pierluigi M, Vitaloni M, Zuffardi O, Corsello G. Piccione M, et al. Among authors: pierluigi m. Eur J Med Genet. 2012 Apr;55(4):238-44. doi: 10.1016/j.ejmg.2012.01.014. Epub 2012 Feb 18. Eur J Med Genet. 2012. PMID: 22406401

7

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.

8

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations.

Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco M, Faravelli F, Dagna Bricarelli F, Bonaglia M, Bedeschi M, Borgatti R. Rossi E, et al. Among authors: pierluigi m. J Med Genet. 2001 Jun;38(6):417-20. doi: 10.1136/jmg.38.6.417. J Med Genet. 2001. PMID: 11424927 Free PMC article. No abstract available.

9

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.

Belligni EF, Biamino E, Molinatto C, Messa J, Pierluigi M, Faravelli F, Zuffardi O, Ferrero GB, Silengo MC. Belligni EF, et al. Among authors: pierluigi m. Ital J Pediatr. 2009 Apr 27;35(1):9. doi: 10.1186/1824-7288-35-9. Ital J Pediatr. 2009. PMID: 19490664 Free PMC article.

10

Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations.

Cavani S, Perfumo C, Faravelli F, Malacarne M, Sogliani M, Piombo G, Zerega G, Zucca M, Dagna Bricarelli F, Pierluigi M. Cavani S, et al. Among authors: pierluigi m. Prenat Diagn. 2003 Oct;23(10):819-23. doi: 10.1002/pd.678. Prenat Diagn. 2003. PMID: 14558026

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