Suchergebnisse - "Colantoni, Luca"

PubPharm (24)

1

Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families

enthalten in: Clinical genetics | 2024

von Strafella, C. | Colantoni, L. | Megalizzi, D. | +12

2

Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy ( FSHD) in a cohort of Italian families

enthalten in: Clinical Genetics | 2024

von Strafella, C. | Colantoni, L. | Megalizzi, D. | +12

3

Epigenetic profiling of the D4Z4 locus : Optimization of the protocol for studying DNA methylation at single CpG site level

enthalten in: Electrophoresis | 2023

von Megalizzi, D. | Trastulli, G. | Caputo, V. | +5

4

Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD

enthalten in: Frontiers in genetics | 2023

von Strafella, C. | Caputo, V. | Bortolani, S. | +10

5

D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients

enthalten in: Cells | 2022

von Caputo, V. | Megalizzi, D. | Fabrizio, C. | +11

6

Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD

enthalten in: Cells | 2022

von Caputo, V. | Megalizzi, D. | Fabrizio, C. | +6

7

Relationship between Nutrition, Lifestyle, and Neurodegenerative Disease : Lessons from ADH1B, CYP1A2 and MTHFR

enthalten in: Genes | 2022

von Barati, S. | Fabrizio, C. | Strafella, C. | +9

8

Comparative analysis of antigen and molecular tests for the detection of Sars-CoV-2 and related variants : A study on 4266 samples

enthalten in: International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases | 2021

von Caputo, V. | Bax, C. | Colantoni, L. | +14

9

The variability of SMCHD1 gene in FSHD patients : evidence of new mutations

enthalten in: Human molecular genetics | 2019

von Strafella, C. | Caputo, V. | Galota, R. | +11

10

Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis : from traditional technology to the NGS era

enthalten in: Neurogenetics | 2019

von Zampatti, S. | Colantoni, L. | Strafella, C. | +10