Belli S - Search Results

1

High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.

Gervasini C, Mottadelli F, Ciccone R, Castronovo P, Milani D, Scarano G, Bedeschi MF, Belli S, Pilotta A, Selicorni A, Zuffardi O, Larizza L. Gervasini C, et al. Among authors: belli s. Eur J Hum Genet. 2010 Jul;18(7):768-75. doi: 10.1038/ejhg.2010.1. Epub 2010 Feb 3. Eur J Hum Genet. 2010. PMID: 20125191 Free PMC article.

2

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.

Brunetti-Pierri N, Paciorkowski AR, Ciccone R, Della Mina E, Bonaglia MC, Borgatti R, Schaaf CP, Sutton VR, Xia Z, Jelluma N, Ruivenkamp C, Bertrand M, de Ravel TJ, Jayakar P, Belli S, Rocchetti K, Pantaleoni C, D'Arrigo S, Hughes J, Cheung SW, Zuffardi O, Stankiewicz P. Brunetti-Pierri N, et al. Among authors: belli s. Eur J Hum Genet. 2011 Jan;19(1):102-7. doi: 10.1038/ejhg.2010.142. Epub 2010 Aug 25. Eur J Hum Genet. 2011. PMID: 20736978 Free PMC article.

3

Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome.

Russo S, Cogliati F, Viri M, Cavalleri F, Selicorni A, Turolla L, Belli S, Romeo A, Larizza L. Russo S, et al. Among authors: belli s. Hum Mutat. 2000 Apr;15(4):387. doi: 10.1002/(SICI)1098-1004(200004)15:4<387::AID-HUMU25>3.0.CO;2-W. Hum Mutat. 2000. PMID: 10737998

4

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previderé C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O. De Gregori M, et al. Among authors: belli s. J Med Genet. 2007 Dec;44(12):750-62. doi: 10.1136/jmg.2007.052787. Epub 2007 Aug 31. J Med Genet. 2007. PMID: 17766364 Free PMC article.

5

An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family.

Baumer A, Belli S, Trüeb RM, Schinzel A. Baumer A, et al. Among authors: belli s. Eur J Hum Genet. 2000 Jun;8(6):443-8. doi: 10.1038/sj.ejhg.5200506. Eur J Hum Genet. 2000. PMID: 10878665

6

Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.

Savino M, d'Apolito M, Formica V, Baorda F, Mari F, Renieri A, Carabba E, Tarantino E, Andreucci E, Belli S, Lo Muzio L, Dallapiccola B, Zelante L, Savoia A. Savino M, et al. Among authors: belli s. Hum Mutat. 2004 Nov;24(5):441. doi: 10.1002/humu.9289. Hum Mutat. 2004. PMID: 15459969

7

Psychiatric disorder in a familial 15;18 translocation and sublocalization of myelin basic protein of 18q22.3.

Calzolari E, Aiello V, Palazzi P, Sensi A, Calzolari S, Orrico D, Calliari L, Holler H, Marzi C, Belli S, Bernardi F, Patracchini P. Calzolari E, et al. Among authors: belli s. Am J Med Genet. 1996 Apr 9;67(2):154-61. doi: 10.1002/(SICI)1096-8628(19960409)67:2<154::AID-AJMG5>3.0.CO;2-S. Am J Med Genet. 1996. PMID: 8723042

8

Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay.

Falco M, Romano C, Alberti A, Greco D, Scuderi C, Avola E, Failla P, Belli S, Tolmie JL, Amata S, Fichera M. Falco M, et al. Among authors: belli s. Clin Chem. 2005 Dec;51(12):2356-8. doi: 10.1373/clinchem.2005.056036. Clin Chem. 2005. PMID: 16306095 No abstract available.

9

Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East Italy.

Mammi I, Basile RT, Bellato S, Belli S, Benedicenti F, Boni S, Castellan C, Clementi M, Di Gianantonio E, Petrella M, Turolla L, Tenconi R. Mammi I, et al. Among authors: belli s. Am J Med Genet A. 2003 Sep 1;121A(3):214-8. doi: 10.1002/ajmg.a.20255. Am J Med Genet A. 2003. PMID: 12923860

10

Small deletion at the 7q21.2 locus in a CCM family detected by real-time quantitative PCR.

Muscarella LA, Guarnieri V, Coco M, Belli S, Parrella P, Pulcrano G, Catapano D, D'Angelo VA, Zelante L, D'Agruma L. Muscarella LA, et al. Among authors: belli s. J Biomed Biotechnol. 2010;2010:854737. doi: 10.1155/2010/854737. Epub 2010 Jul 27. J Biomed Biotechnol. 2010. PMID: 20798775 Free PMC article.

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