Neri G - Search Results

1

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: neri g. 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.

2

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.

Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, Giorda R, Ragusa A, Guerneri S, Selicorni A, Stumm M, Tonnies H, Ventura M, Zollino M, Neri G, Barber J, Wieczorek D, Rocchi M, Zuffardi O. Giglio S, et al. Among authors: neri g. Am J Hum Genet. 2002 Aug;71(2):276-85. doi: 10.1086/341610. Epub 2002 Jun 10. Am J Hum Genet. 2002. PMID: 12058347 Free PMC article.

3

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: neri g. Eur J Hum Genet. 2004 Oct;12(10):797-804. doi: 10.1038/sj.ejhg.5201203. Eur J Hum Genet. 2004. PMID: 15241479

4

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. Among authors: neri g. Hum Genet. 2006 Feb;118(6):760-6. doi: 10.1007/s00439-005-0085-x. Epub 2005 Dec 2. Hum Genet. 2006. PMID: 16323011

5

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: neri g. Hum Genet. 2007 Dec;122(5):423-30. doi: 10.1007/s00439-007-0412-5. Epub 2007 Aug 4. Hum Genet. 2007. PMID: 17676343

6

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: neri g. 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

7

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G. Zollino M, et al. Among authors: neri g. Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):257-69. doi: 10.1002/ajmg.c.30190. Am J Med Genet C Semin Med Genet. 2008. PMID: 18932124 Review.

8

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.

Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G. Zollino M, et al. Among authors: neri g. Nat Genet. 2012 Apr 29;44(6):636-8. doi: 10.1038/ng.2257. Nat Genet. 2012. PMID: 22544367

9

The ring 14 syndrome.

Zollino M, Ponzi E, Gobbi G, Neri G. Zollino M, et al. Among authors: neri g. Eur J Med Genet. 2012 May;55(5):374-80. doi: 10.1016/j.ejmg.2012.03.009. Epub 2012 Apr 14. Eur J Med Genet. 2012. PMID: 22564756 Review.

10

From Pitt-Rogers-Danks syndrome to Wolf-Hirschhorn syndrome and back?

Zollino M, Bova R, Neri G. Zollino M, et al. Among authors: neri g. Am J Med Genet. 1996 Dec 2;66(1):113-5. doi: 10.1002/(SICI)1096-8628(19961202)66:1<113::AID-AJMG29>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8957527

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