Giglio S - Search Results

1

Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication.

Marini C, Cecconi A, Contini E, Pantaleo M, Metitieri T, Guarducci S, Giglio S, Guerrini R, Genuardi M. Marini C, et al. Among authors: giglio s. Am J Med Genet A. 2013 Jun;161A(6):1459-64. doi: 10.1002/ajmg.a.35907. Epub 2013 Apr 30. Am J Med Genet A. 2013. PMID: 23633446

2

Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25.

Pirola B, Bortotto L, Giglio S, Piovan E, Janes A, Guerrini R, Zuffardi O. Pirola B, et al. Among authors: giglio s. J Med Genet. 1998 Dec;35(12):1031-3. doi: 10.1136/jmg.35.12.1031. J Med Genet. 1998. PMID: 9863602 Free PMC article.

3

Reciprocal translocations: a trap for cytogenetists?

Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, Carrozzo R, Bonaglia MC, Priolo E, Laganà C, Tenconi R, Rocchi M, Pramparo T, Zuffardi O, Rossi E. Ciccone R, et al. Among authors: giglio s. Hum Genet. 2005 Oct;117(6):571-82. doi: 10.1007/s00439-005-1324-x. Epub 2005 Jul 23. Hum Genet. 2005. PMID: 16041583

4

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

Giorda R, Ciccone R, Gimelli G, Pramparo T, Beri S, Bonaglia MC, Giglio S, Genuardi M, Argente J, Rocchi M, Zuffardi O. Giorda R, et al. Among authors: giglio s. Hum Mutat. 2007 May;28(5):459-68. doi: 10.1002/humu.20465. Hum Mutat. 2007. PMID: 17262805

5

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.

Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R. Cardoso C, et al. Among authors: giglio s. Neurology. 2009 Mar 3;72(9):784-92. doi: 10.1212/01.wnl.0000336339.08878.2d. Epub 2008 Dec 10. Neurology. 2009. PMID: 19073947

6

Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.

Giunti L, Cetica V, Ricci U, Giglio S, Sardi I, Paglierani M, Andreucci E, Sanzo M, Forni M, Buccoliero AM, Genitori L, Genuardi M. Giunti L, et al. Among authors: giglio s. Eur J Hum Genet. 2009 Jul;17(7):919-27. doi: 10.1038/ejhg.2008.271. Epub 2009 Jan 21. Eur J Hum Genet. 2009. PMID: 19156169 Free PMC article.

7

Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes.

Carboni I, Andreucci E, Caruso MR, Ciccone R, Zuffardi O, Genuardi M, Pela I, Giglio S. Carboni I, et al. Among authors: giglio s. Nephrol Dial Transplant. 2009 Sep;24(9):2734-8. doi: 10.1093/ndt/gfp160. Epub 2009 Apr 13. Nephrol Dial Transplant. 2009. PMID: 19364879

8

Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity.

Andreucci E, Bianchi B, Carboni I, Lavoratti G, Mortilla M, Fonda C, Bigozzi M, Genuardi M, Giglio S, Pela I. Andreucci E, et al. Among authors: giglio s. Pediatr Nephrol. 2009 Nov;24(11):2147-53. doi: 10.1007/s00467-009-1261-3. Epub 2009 Jul 29. Pediatr Nephrol. 2009. PMID: 19639346

9

Growth hormone therapy-related hyperglycaemia in a boy with renal cystic hypodysplasia and a new mutation of the HNF1 beta gene.

Giglio S, Contini E, Toni S, Pela I. Giglio S, et al. Nephrol Dial Transplant. 2010 Sep;25(9):3116-9. doi: 10.1093/ndt/gfq315. Epub 2010 Jun 13. Nephrol Dial Transplant. 2010. PMID: 20543213

10

Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.

Maffé A, Toschi B, Circo G, Giachino D, Giglio S, Rizzo A, Carloni A, Poletti V, Tomassetti S, Ginardi C, Ungari S, Genuardi M. Maffé A, et al. Among authors: giglio s. Clin Genet. 2011 Apr;79(4):345-54. doi: 10.1111/j.1399-0004.2010.01480.x. Clin Genet. 2011. PMID: 20618353

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

223 results

Search Page

Filters