Lecce R - Search Results

1

Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients.

Kavamura MI, Zollino M, Lecce R, Murdolo M, Brunoni D, Alchorne MM, Opitz JM, Neri G. Kavamura MI, et al. Among authors: lecce r. Am J Med Genet A. 2003 Jun 1;119A(2):177-9. doi: 10.1002/ajmg.a.10198. Am J Med Genet A. 2003. PMID: 12749059

2

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Buttè C, Memo L, Capovilla G, Neri G. Zollino M, et al. Among authors: lecce r. Am J Hum Genet. 2003 Mar;72(3):590-7. doi: 10.1086/367925. Epub 2003 Jan 30. Am J Hum Genet. 2003. PMID: 12563561 Free PMC article.

3

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.

Kavamura MI, Pomponi MG, Zollino M, Lecce R, Murdolo M, Brunoni D, Alchorne MM, Opitz JM, Neri G. Kavamura MI, et al. Among authors: lecce r. Eur J Hum Genet. 2003 Jan;11(1):64-8. doi: 10.1038/sj.ejhg.5200911. Eur J Hum Genet. 2003. PMID: 12529707 Free article.

4

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.

Zollino M, Lecce R, Selicorni A, Murdolo M, Mancuso I, Marangi G, Zampino G, Garavelli L, Ferrarini A, Rocchi M, Opitz JM, Neri G. Zollino M, et al. Among authors: lecce r. Eur J Hum Genet. 2004 Oct;12(10):797-804. doi: 10.1038/sj.ejhg.5201203. Eur J Hum Genet. 2004. PMID: 15241479

5

Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome.

Tabolacci E, Zollino M, Lecce R, Sangiorgi E, Gurrieri F, Leuzzi V, Opitz JM, Neri G. Tabolacci E, et al. Among authors: lecce r. Clin Dysmorphol. 2005 Jul;14(3):127-132. Clin Dysmorphol. 2005. PMID: 15930901

6

The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12.

Lecce R, Murdolo M, Gelli G, Steindl K, Coppola L, Romano A, Cupelli E, Neri G, Zollino M. Lecce R, et al. Hum Genet. 2006 Feb;118(6):760-6. doi: 10.1007/s00439-005-0085-x. Epub 2005 Dec 2. Hum Genet. 2006. PMID: 16323011

7

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.

Zollino M, Lecce R, Murdolo M, Orteschi D, Marangi G, Selicorni A, Midro A, Sorge G, Zampino G, Memo L, Battaglia D, Petersen M, Pandelia E, Gyftodimou Y, Faravelli F, Tenconi R, Garavelli L, Mazzanti L, Fischetto R, Cavalli P, Savasta S, Rodriguez L, Neri G. Zollino M, et al. Among authors: lecce r. Hum Genet. 2007 Dec;122(5):423-30. doi: 10.1007/s00439-007-0412-5. Epub 2007 Aug 4. Hum Genet. 2007. PMID: 17676343

8

Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype.

Marangi G, Leuzzi V, Orteschi D, Grimaldi ME, Lecce R, Neri G, Zollino M. Marangi G, et al. Among authors: lecce r. Am J Med Genet A. 2008 Sep 15;146A(18):2313-7. doi: 10.1002/ajmg.a.32460. Am J Med Genet A. 2008. PMID: 18688873

9

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

Marangi G, Ricciardi S, Orteschi D, Lattante S, Murdolo M, Dallapiccola B, Biscione C, Lecce R, Chiurazzi P, Romano C, Greco D, Pettinato R, Sorge G, Pantaleoni C, Alfei E, Toldo I, Magnani C, Bonanni P, Martinez F, Serra G, Battaglia D, Lettori D, Vasco G, Baroncini A, Daolio C, Zollino M. Marangi G, et al. Among authors: lecce r. Am J Med Genet A. 2011 Jul;155A(7):1536-45. doi: 10.1002/ajmg.a.34070. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671391

10

Assisted reproductive technology and congenital overgrowth: some speculations on a case of Pallister-Killian syndrome.

Chiurazzi P, Bajer J, Tabolacci E, Pomponi MG, Lecce R, Zollino M, Neri G. Chiurazzi P, et al. Among authors: lecce r. Am J Med Genet A. 2004 Oct 15;130A(3):315-6. doi: 10.1002/ajmg.a.30300. Am J Med Genet A. 2004. PMID: 15378537

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