Detalhe da pesquisa
1.
Inferring biallelism of two FSH receptor mutations associated with spontaneous ovarian hyperstimulation syndrome by evaluating FSH, LH and HCG cross-activity.
Reprod Biomed Online
; 38(5): 816-824, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30910395
2.
No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.
Hum Mol Genet
; 23(7): 1916-22, 2014 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24234648
3.
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.
Cytogenet Genome Res
; 147(1): 10-6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26658296
4.
Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy.
J Neurol Neurosurg Psychiatry
; 86(2): 168-73, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24769471
5.
The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.
Alzheimers Dement
; 11(12): 1407-1416, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25936935
6.
Genetic counselling in ALS: facts, uncertainties and clinical suggestions.
J Neurol Neurosurg Psychiatry
; 85(5): 478-85, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23833266
7.
The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients.
Eur J Nucl Med Mol Imaging
; 41(5): 844-52, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24445987
8.
Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report.
Clin Chem Lab Med
; 52(4): 505-9, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24166674
9.
The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms.
Neurogenetics
; 14(2): 161-6, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23546887
10.
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.
Brain
; 135(Pt 3): 784-93, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22366794
11.
Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients.
Proc Natl Acad Sci U S A
; 107(27): 12335-8, 2010 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-20566859
12.
ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.
J Neurol Neurosurg Psychiatry
; 83(7): 730-3, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22550220
13.
An ALS case with a novel D90N-SOD1 heterozygous missense mutation.
Amyotroph Lateral Scler
; 13(4): 393-5, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22632444
14.
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study.
Amyotroph Lateral Scler
; 13(6): 580-4, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22873564
15.
Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome.
BMC Nephrol
; 13: 9, 2012 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-22353239
16.
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
Hum Mol Genet
; 18(8): 1524-32, 2009 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19193627
17.
FSH-receptor Ala307Thr polymorphism is associated to polycystic ovary syndrome and to a higher responsiveness to exogenous FSH in Italian women.
J Assist Reprod Genet
; 28(10): 925-30, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21792664
18.
Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.
Brain
; 137(Pt 12): e311, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25261972
19.
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.
J Pediatr
; 155(2): 199-204.e2, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19446849
20.
A familial ALS case carrying a novel p.G147C SOD1 heterozygous missense mutation with non-executive cognitive impairment.
J Neurol Neurosurg Psychiatry
; 85(12): 1437-9, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24769475