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Endocrine Connections|September 25, 2014
Disorders of sex development: a genetic study of patients in a multidisciplinary clinicLuigi Laino, Silvia Majore, Nicoletta Preziosi, et al.
Diagnostics (Basel, Switzerland)|December 24, 2021
Comparison of Two Blood-Based Genotyping Tests to Investigate the KRAS G12C Mutation in Patients with Non-Small-Cell Lung Cancer at Failure of First-Line TreatmentsChiara Nicolazzo, Alain Gelibter, Irene Bottillo, et al.
Genes, Chromosomes & Cancer|July 30, 2008
Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOFAngelo Carbone, Laura Bernardini, Francesco Valenzano, et al.
Genes|July 27, 2022
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case ReportNiccolò Di Giosaffatte, Michele Valiante, Stefano Tricarico, et al.
Dermatology Online Journal|September 17, 2020
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndromeIrene Bottillo, Michele Valiante, Lucia Menale, et al.
Data in Brief|April 8, 2016
Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathyIrene Bottillo, Daniela D'Angelantonio, Viviana Caputo, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 30, 2016
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangementLuigi Laino, Irene Bottillo, Caterina Piedimonte, et al.
BMC Research Notes|September 24, 2013
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case reportIrene Bottillo, Marco Castori, Carmelilia De Bernardo, et al.
Genes|December 23, 2022
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?Niccolò Di Giosaffatte, Alessandro Ferraris, Federica Gaudioso, et al.
Human Mutation|May 18, 2004
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1Alessandro De Luca, Annalisa Schirinzi, Anna Buccino, et al.
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