Marangi G - Search Results

1

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Richard EM, et al. Among authors: marangi g. Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi: 10.1016/j.ajhg.2021.08.003. Am J Hum Genet. 2021. PMID: 34626583 Free PMC article.

2

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

3

Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes.

Faravelli F, Murdolo M, Marangi G, Bricarelli FD, Di Rocco M, Zollino M. Faravelli F, et al. Among authors: marangi g. Am J Med Genet A. 2007 Jun 1;143A(11):1169-73. doi: 10.1002/ajmg.a.31723. Am J Med Genet A. 2007. PMID: 17480006

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: marangi 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

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. 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

6

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: marangi 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.

7

Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication.

Orrico A, Zollino M, Galli L, Buoni S, Marangi G, Sorrentino V. Orrico A, et al. Among authors: marangi g. Am J Med Genet A. 2009 May;149A(5):1033-5. doi: 10.1002/ajmg.a.32785. Am J Med Genet A. 2009. PMID: 19396834

8

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: marangi 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

9

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: marangi 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

10

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: marangi 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.

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