Concepedia

Maria Luisa Focarelli

ML

6

Publications

784

Citations

6

H-Index

2005

Active since

Affiliations

Institute of Biomedical Technologies(Current)

University of Milan

Fondazione Humanitas per la Ricerca

Humanitas University

Institute of Genetic and Biomedical Research

Maria Luisa Focarelli is an author at Institute of Biomedical Technologies specializing in medicine, cell biology, and molecular genetics.

Top concepts

MedicineCell BiologyChromatinDna ReplicationNatural SciencesMolecular BiologyGenome InstabilityMolecular GeneticsGeneticsPathology

Publications per year

2005–2015

6

Publications

6

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

Antonio Musio, Angelo Selicorni, Maria Luisa Focarelli et al. · Nature Genetics · 2006 · 476 citations

Mendelian Disorder, Genetic Disorder, Pathology +5

SMC1 involvement in fragile site expression

Antonio Musio, Cristina Montagna, Tullio Mariani et al. · Human Molecular Genetics · 2005 · 117 citations

Microformat, Molecular Biology, Molecular Genetics +17

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

Ekaterina Revenkova, Maria Luisa Focarelli, S. P. Lucia et al. · Human Molecular Genetics · 2008 · 107 citations · Full text

Chromatin, Genome Instability, Mendelian Disorder +15

Claspin inhibition leads to fragile site expression

Maria Luisa Focarelli, Samuela Soza, Linda Mannini et al. · Genes Chromosomes and Cancer · 2009 · 48 citations

Targeted Gene Correction in Osteopetrotic-Induced Pluripotent Stem Cells for the Generation of Functional Osteoclasts

Tui Néri, Sharon Muggeo, Marianna Paulis et al. · Stem Cell Reports · 2015 · 22 citations · Full text

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