A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

Matteo Bovolenta, Marcella Neri, Sergio Fini, +18

BMC Genomics

Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders

Alessandra Ferlini, Maria Cristina Patrosso, Donata Guidetti, +8

American Journal of Medical Genetics

Molecular strategies in genetic diagnosis of transthyretin‐related hereditary amyloidosis

Alessandra Ferlini, Sergio Fini, Fabrizto Salvi, +3

The FASEB Journal

A three-generation family with terminal microdeletion involving 5p15.33–32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome

Amira Elmakky, Diana Carli, Licia Lugli, +6

European Journal of Medical Genetics

Terminal MicrodeletionSteady PhenotypeDevelopmental BiologyMendelian DisorderCytogenetics +8

Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome

Francesca Gualandi, Fátima Záraket, Michele Malagù, +9

Cardiology

New patients with Temple syndrome caused by 14q32 deletion: Genotype‐phenotype correlations and risk of thyroid cancer

Giulia Severi, Laura Bernardini, Silvana Briuglia, +12

American Journal of Medical Genetics Part A

Transcriptional behavior of DMD gene duplications in DMD/BMD males

Francesca Gualandi, Marcella Neri, Matteo Bovolenta, +16

Human Mutation

Transcriptional RegulationSystems BiologyMendelian DisorderGenetic DisorderDmd Gene Duplications +12

A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis

Alessandra Ferlini, Maria Cristina Patrosso, Monica Repetto, +6

Human Mutation

New MutationGenetic DisorderGeneticsHereditary AmyloidosisMolecular Biology +4

Downregulation of A1 and A2B adenosine receptors in human trisomy 21 mesenchymal cells from first-trimester chorionic villi

Stefania Gessi, Stefania Merighi, Angela Stefanelli, +8

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Developmental BiologyHuman Trisomy 21First-trimester Chorionic VilliMesenchymal CellsGynecology +3

A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature

Giulia Parmeggiani, Barbara Buldrini, Sergio Fini, +2

Molecular Syndromology