Detalles de la búsqueda
1.
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.
Clin Genet
; 105(3): 335-339, 2024 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38041579
2.
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Clin Genet
; 2024 Apr 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38685133
3.
Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level.
Electrophoresis
; 44(19-20): 1588-1594, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37565369
4.
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Mov Disord
; 38(12): 2241-2248, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37750340
5.
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).
Clin Genet
; 102(2): 155-156, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35524423
6.
Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies.
J Assist Reprod Genet
; 39(11): 2581-2593, 2022 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-36370240
7.
A Hybrid Machine Learning and Network Analysis Approach Reveals Two Parkinson's Disease Subtypes from 115 RNA-Seq Post-Mortem Brain Samples.
Int J Mol Sci
; 23(5)2022 Feb 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-35269707
8.
The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.
Hum Mol Genet
; 28(23): 3912-3920, 2019 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31600781
9.
Overview of the molecular determinants contributing to the expression of Psoriasis and Psoriatic Arthritis phenotypes.
J Cell Mol Med
; 24(23): 13554-13563, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33128843
10.
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.
BMC Neurol
; 20(1): 258, 2020 Jun 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-32600288
11.
RNAseq-Based Prioritization Revealed COL6A5, COL8A1, COL10A1 and MIR146A as Common and Differential Susceptibility Biomarkers for Psoriasis and Psoriatic Arthritis: Confirmation from Genotyping Analysis of 1417 Italian Subjects.
Int J Mol Sci
; 21(8)2020 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-32326527
12.
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
Neurogenetics
; 20(2): 57-64, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30911870
13.
Migrainous Infarction in a Patient With Sporadic Hemiplegic Migraine and Cystic Fibrosis: A 99mTc-HMPAO Brain SPECT Study.
Headache
; 59(2): 253-258, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30620050
14.
The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A.
Int J Mol Sci
; 20(7)2019 Mar 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-30934838
15.
Can Tangier disease cause male infertility? A case report and an overview on genetic causes of male infertility and hormonal axis involved.
Mol Genet Metab
; 123(1): 43-49, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29198592
16.
Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis.
Prenat Diagn
; 38(13): 1096-1102, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30303263
17.
Three-hour analysis of non-invasive foetal sex determination: application of Plexor chemistry.
Hum Genomics
; 10: 9, 2016 Apr 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27044517
18.
Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts.
Exp Cell Res
; 342(1): 39-51, 2016 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26905645
19.
Next Generation Sequencing and ALS: known genes, different phenotyphes.
Arch Ital Biol
; 155(4): 110-117, 2017 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29405028
20.
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations.
Electrophoresis
; 37(5-6): 860-4, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26681637