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/vufind/Search/Results?lookfor=%22Colantoni%2C+Luca%22&type=Person&sort=year
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PubPharm (23)
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
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2
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
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3
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
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4
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
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5
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
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6
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
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7
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
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8
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
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9
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
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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
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Thema
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Journal Article
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FSHD
8
Research Support, Non-U.S. Gov't
4
D4Z4
4
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epigenetics
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Chromosomal Proteins, Non-Histone
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Homeodomain Proteins
2
Repeat Array
2
SMCHD1 protein, human
2
Subtelomeric Region
2
Telomeric Sequence
2
Variant Allele
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contraction
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genetic counseling
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