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Gloria Negri

University of Milan

17

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210

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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

2019 Human Genetics
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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

2019 Default journal
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EP300 (E1A binding protein p300)

2017 Atlas of genetics and cytogenetics in oncology and haematology
- Gloria Negri
- Cristina Gervasini
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Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation: Correspondence.

2017 Indian Journal of Pediatrics
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Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.

2016 Orphanet Journal of Rare Diseases
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From Whole Gene Deletion to Point Mutations of EP300‐Positive Rubinstein–Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

2016 Human Mutation
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Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

2015 Human Genetics
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Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

2015 Clinical Genetics
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Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients

2015 Clinical Genetics
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Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms

2015 British Journal of Haematology
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