Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa

Alessandro Beghini, MariaGrazia Tibiletti, Gaia Roversi, +4

Cancer

RNA hyperediting and alternative splicing of hematopoietic cell phosphatase (PTPN6) gene in acute myeloid leukemia

Alessandro Beghini, Carla B. Ripamonti, Paolo Peterlongo, +4

Human Molecular Genetics

Mixed-phenotype Acute LeukemiaGeneticsRna SplicingImmunologyPtpn6 Mrna +19

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

Ludovica Volpi, Gaia Roversi, Elisa Adele Colombo, +9

The American Journal of Human Genetics

Molecular Diagnostic TechniquesClericuzio-type PoikilodermaMedicineAppoints C16orf57Pathogenesis +6

Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines

Gaia Roversi, Rolph Pfundt, Ramona Frida Moroni, +6

Oncogene

Neuro-oncologyTumor HeterogeneityMedicineBiomarker TargetPathology +8

The neural progenitor-restricted isoform of the MARK4 gene in 19q13.2 is upregulated in human gliomas and overexpressed in a subset of glioblastoma cell lines

Alessandro Beghini, Ivana Magnani, Gaia Roversi, +8

Oncogene

Neuro-oncologyGliomaGeneticsMark4 GeneHuman Gliomas +7

RNA processing defects of the helicase gene <i>RECQL4</i> in a compound heterozygous Rothmund–Thomson patient

Alessandro Beghini, Pierangela Castorina, Gaia Roversi, +2

American Journal of Medical Genetics Part A

Clericuzio‐type poikiloderma with neutropenia syndrome in three sibs with mutations in the <i>C16orf57</i> gene: Delineation of the phenotype

Daniela Concolino, Gaia Roversi, G Muzzi, +5

American Journal of Medical Genetics Part A

Clinical utility gene card for: Rothmund–Thomson syndrome

Lidia Larizza, Gaia Roversi, Alain Verloès

European Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsClinical GeneticsDisease Gene Identification +3

Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes

Yves Sznajer, H. Annika Siitonen, Gaia Roversi, +6

European Journal of Pediatrics

Developmental AnomalyMendelian DisorderGenetic DisorderGeneticsInherited Metabolic Disease +8

Differential cytogenomics and miRNA signature of the Acute Myeloid Leukaemia Kasumi-1 cell line CD34+38− compartment

Laura Pedranzini, Federica Mottadelli, Simona Ronzoni, +8

Leukemia Research

Hematological MalignancyMirna SignatureMedicineMixed-phenotype Acute LeukemiaImmunology +8