Neri G - Search Results

1

Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis.

Sabatelli M, Eusebi F, Al-Chalabi A, Conte A, Madia F, Luigetti M, Mancuso I, Limatola C, Trettel F, Sobrero F, Di Angelantonio S, Grassi F, Di Castro A, Moriconi C, Fucile S, Lattante S, Marangi G, Murdolo M, Orteschi D, Del Grande A, Tonali P, Neri G, Zollino M. Sabatelli M, et al. Among authors: neri g. Hum Mol Genet. 2009 Oct 15;18(20):3997-4006. doi: 10.1093/hmg/ddp339. Epub 2009 Jul 23. Hum Mol Genet. 2009. PMID: 19628475

2

Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study.

Sabatelli M, Lattante S, Conte A, Marangi G, Luigetti M, Del Grande A, Chiò A, Corbo M, Giannini F, Mandrioli J, Mora G, Calvo A, Restagno G, Lunetta C, Penco S, Battistini S, Zeppilli P, Bizzarro A, Capoluongo E, Neri G, Rossini PM, Zollino M. Sabatelli M, et al. Among authors: neri g. Amyotroph Lateral Scler. 2012 Oct;13(6):580-4. doi: 10.3109/17482968.2012.704926. Epub 2012 Aug 8. Amyotroph Lateral Scler. 2012. PMID: 22873564

3

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

4

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

5

A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.

Zollino M, Orteschi D, Marangi G, De Crescenzo A, Pecile V, Riccio A, Neri G. Zollino M, et al. Among authors: neri g. J Med Genet. 2010 Jun;47(6):429-32. doi: 10.1136/jmg.2009.071142. Epub 2009 Oct 20. J Med Genet. 2010. PMID: 19843502

6

Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome.

Zollino M, Gurrieri F, Orteschi D, Marangi G, Leuzzi V, Neri G. Zollino M, et al. Among authors: neri g. Eur J Hum Genet. 2011 Feb;19(2):239-42. doi: 10.1038/ejhg.2010.172. Epub 2010 Dec 1. Eur J Hum Genet. 2011. PMID: 21119708 Free PMC article.

7

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

8

Marangi G, Leuzzi V, Manti F, Lattante S, Orteschi D, Pecile V, Neri G, Zollino M. Marangi G, et al. Among authors: neri g. Eur J Hum Genet. 2013 Feb;21(2):229-32. doi: 10.1038/ejhg.2012.79. Epub 2012 May 2. Eur J Hum Genet. 2013. PMID: 22549410 Free PMC article.

9

Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation.

Conte A, Lattante S, Luigetti M, Del Grande A, Romano A, Marcaccio A, Marangi G, Rossini PM, Neri G, Zollino M, Sabatelli M. Conte A, et al. Among authors: neri g. J Neurol Neurosurg Psychiatry. 2012 Dec;83(12):1201-3. doi: 10.1136/jnnp-2012-302897. Epub 2012 Jul 8. J Neurol Neurosurg Psychiatry. 2012. PMID: 22773853

10

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.

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