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Items: 8

1.

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.

Toldo I, Bonardi CM, Bettella E, Polli R, Talenti G, Burlina A, Sartori S, Murgia A.

Eur J Paediatr Neurol. 2018 Nov;22(6):1042-1053. doi: 10.1016/j.ejpn.2018.06.010. Epub 2018 Jul 3. Review.

PMID:
30005813
2.

A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.

Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:88-93. doi: 10.1016/j.ijporl.2017.10.042. Epub 2017 Oct 31.

PMID:
29287889
3.

Identification of four novel PCDH19 Mutations and prediction of their functional impact.

Leonardi E, Sartori S, Vecchi M, Bettella E, Polli R, Palma LD, Boniver C, Murgia A.

Ann Hum Genet. 2014 Nov;78(6):389-98. doi: 10.1111/ahg.12082. Epub 2014 Sep 17.

4.

Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females.

Bettella E, Di Rosa G, Polli R, Leonardi E, Tortorella G, Sartori S, Murgia A.

Clin Genet. 2013 Jul;84(1):82-5. doi: 10.1111/cge.12034. Epub 2012 Nov 7.

PMID:
23039062
5.

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

Ellaway CJ, Ho G, Bettella E, Knapman A, Collins F, Hackett A, McKenzie F, Darmanian A, Peters GB, Fagan K, Christodoulou J.

Eur J Hum Genet. 2013 May;21(5):522-7. doi: 10.1038/ejhg.2012.208. Epub 2012 Sep 12.

6.

Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.

Sartori S, Polli R, Bettella E, Rossato S, Andreoli W, Vecchi M, Giordano L, Accorsi P, Di Rosa G, Toldo I, Zamponi N, Darra F, Dalla Bernardina B, Perilongo G, Boniver C, Murgia A.

J Child Neurol. 2011 Jun;26(6):683-91. doi: 10.1177/0883073810387827. Epub 2011 Apr 11.

PMID:
21482751
7.

Familial Ohtahara syndrome due to a novel ARX gene mutation.

Giordano L, Sartori S, Russo S, Accorsi P, Galli J, Tiberti A, Bettella E, Marchi M, Vignoli A, Darra F, Murgia A, Bernardina BD.

Am J Med Genet A. 2010 Dec;152A(12):3133-7. doi: 10.1002/ajmg.a.33701.

8.

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

Sartori S, Di Rosa G, Polli R, Bettella E, Tricomi G, Tortorella G, Murgia A.

Am J Med Genet A. 2009 Feb;149A(2):232-6. doi: 10.1002/ajmg.a.32606.

PMID:
19161156

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