Detalhe da pesquisa
1.
Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.
Hum Mutat
; 41(4): 759-773, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31799751
2.
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Hum Mutat
; 37(4): 364-70, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26703369
3.
CNV analysis in 169 patients with bladder exstrophy-epispadias complex.
BMC Med Genet
; 17(1): 35, 2016 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27138190
4.
Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes.
Am J Med Genet A
; 161A(10): 2656-62, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24038848
5.
Missense mutations in the AFG3L2 proteolytic domain account for â¼1.5% of European autosomal dominant cerebellar ataxias.
Hum Mutat
; 31(10): 1117-24, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20725928
6.
Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia.
Mov Disord
; 25(9): 1269-73, 2010 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20629122
7.
Correction: Monoallelic Germline TSC1 Mutations Are Permissive for T Lymphocyte Development and Homeostasis in Tuberous Sclerosis Complex Individuals.
PLoS One
; 14(6): e0218354, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31173608
8.
A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia.
Mov Disord
; 23(10): 1468-71, 2008 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-18566986
9.
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
Brain
; 129(Pt 1): 235-42, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16251216
10.
Intractable epilepsy in hemimegalencephaly and tuberous sclerosis complex.
J Child Neurol
; 22(1): 80-4, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17608312
11.
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.
Hum Mutat
; 27(10): 1061, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16941484
12.
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay.
J Mol Diagn
; 8(1): 128-32, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16436644
13.
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene.
J Mol Diagn
; 7(5): 605-12, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16258159
14.
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.
Hum Mutat
; 21(4): 450, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12655570
15.
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
Arch Neurol
; 61(5): 727-33, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15148151
16.
Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay.
J Mol Diagn
; 6(2): 96-100, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15096564
17.
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions.
J Neurol
; 249(7): 923-9, 2002 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12140678
18.
Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals.
PLoS One
; 9(3): e91952, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24633152
19.
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy.
J Neurol
; 255(7): 1079-80, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18446310
20.
Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.
Ann Hum Genet
; 72(Pt 1): 10-8, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17910737