Search Results

Bilateral Retinal Angiomatous Proliferation in a Variant of Retinitis Pigmentosa.

• Authors : Aloe, G.; De Sanctis, C. M.; Strafella, C.

Subjects: RETINITIS pigmentosa; OPTICAL coherence tomography; VISUAL acuity

• Source: Case Reports in Ophthalmological Medicine; 7/31/2019, p1-5, 5p

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Assessing individual risk for AMD with genetic counseling, family history, and genetic testing

• Authors : Cascella, R; Strafella, C; Longo, G

• Source: Eye; February 2018, Vol. 32 Issue: 2 p446-450, 5p

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Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01.

• Authors : Cascella, R; Strafella, C; Ragazzo, M

Subjects: POLYMERASE chain reaction; PHARMACOGENOMICS; GENETIC testing

• Source: Pharmacogenomics Journal; Apr2015, Vol. 15 Issue 2, p196-200, 5p

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

• Authors : Strafella C; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Rome, Italy.; Colantoni L

Subjects: Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/diagnosis ; Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/genetics; Humans Facioscapulohumeral muscular dystrophy 1a

• Source: Clinical genetics [Clin Genet] 2024 Mar; Vol. 105 (3), pp. 335-339. Date of Electronic Publication: 2023 Dec 02.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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

• Authors : Megalizzi D; Genomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, Rome, Italy.; Department of Biomedicine and Prevention, Tor Vergata University, Rome, Italy.

• Source: Electrophoresis [Electrophoresis] 2023 Oct; Vol. 44 (19-20), pp. 1588-1594. Date of Electronic Publication: 2023 Aug 11.Publisher: Wiley-VCH Country of Publication: Germany NLM ID: 8204476 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-2683

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

• Authors : Strafella C; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Rome, Italy.; Caputo V

• Source: Frontiers in genetics [Front Genet] 2023 Aug 22; Vol. 14, pp. 1235589. Date of Electronic Publication: 2023 Aug 22 (Print Publication: 2023).Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print

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

• Authors : Caputo V; Genomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, 00179 Rome, Italy.; Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy.

Subjects: Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/diagnosis ; Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/genetics; Humans

• Source: Cells [Cells] 2022 Dec 18; Vol. 11 (24). Date of Electronic Publication: 2022 Dec 18.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409

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Analysis of Genetic Variants Associated with COVID-19 Outcome Highlights Different Distributions among Populations.

• Authors : Fabrizio C; Data Science Unit, IRCCS Santa Lucia Foundation c/o CERC, 00143 Rome, Italy.; Termine A

• Source: Journal of personalized medicine [J Pers Med] 2022 Nov 05; Vol. 12 (11). Date of Electronic Publication: 2022 Nov 05.Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101602269 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4426

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

• Authors : Caputo V; Genomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, 00179 Rome, Italy.; Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy.

Subjects: Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/genetics ; Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/metabolism; Chromatin

• Source: Cells [Cells] 2022 Aug 29; Vol. 11 (17). Date of Electronic Publication: 2022 Aug 29.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409

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

• Authors : Barati S; Genomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, 00179 Rome, Italy.; Fabrizio C

Subjects: Alzheimer Disease*/Alzheimer Disease*/Alzheimer Disease*/genetics ; Neurodegenerative Diseases*/Neurodegenerative Diseases*/Neurodegenerative Diseases*/genetics ; Parkinson Disease*/Parkinson Disease*/Parkinson Disease*/genetics

• Source: Genes [Genes (Basel)] 2022 Aug 22; Vol. 13 (8). Date of Electronic Publication: 2022 Aug 22.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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