Servizio di sequenziamento Next Generation

Pubblicazioni Scientifiche

• 2013-07-01 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

  Familial trisomy 6p in mother and daughter

• 2015-04-01 BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

  Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects

• 2011-11-01 CLINICAL CHEMISTRY

  Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders

• 2016-11-01 CLINICAL GENETICS

  Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis

• 2011-10-01 CURRENT OPINION IN NEUROLOGY

  Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches

• 2015-07-01 EMBO MOLECULAR MEDICINE

  Antigen delivery by filamentous bacteriophage fd displaying an anti-DEC-205 single-chain variable fragment confers adjuvanticity by triggering a TLR9-mediated immune response

• 2016-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS

  Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

• 2015-10-01 EUROPEAN JOURNAL OF HUMAN GENETICS

  Arg1809 substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1

• 2018-11-01 GENES

  Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

• 2013-04-01 HUMAN GENE THERAPY

  Use of a Lower Dosage Liver-Detargeted AAV Vector to Prevent Hamster Muscular Dystrophy

• 2011-12-01 HUMAN MOLECULAR GENETICS

  Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex

• 2014-08-01 HUMAN MOLECULAR GENETICS

  A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

• 2011-11-01 JOURNAL OF CELLULAR PHYSIOLOGY

  Unexpectedly Low Mutation Rates in Beta-Myosin Heavy Chain and Cardiac Myosin Binding Protein Genes in Italian Patients With Hypertrophic Cardiomyopathy

• 2014-09-01 JOURNAL OF COMPUTATIONAL BIOLOGY

  Prediction of Rare Single-Nucleotide Causative Mutations for Muscular Diseases in Pooled Next-Generation Sequencing Experiments

• 2015-04-01 JOURNAL OF DENTAL RESEARCH

  Genetic Association of ARHGAP21 Gene Variant with Mandibular Prognathism

• 2013-08-01 JOURNAL OF NEUROLOGY

  Clinical phenotype, muscle MRI and muscle pathology of LGMD1F

• 2015-01-01 MUSCLE & NERVE

  DOMINANT MUSCULAR DYSTROPHY WITH A NOVEL SYNE1 GENE MUTATION

• 2016-07-05 NEUROLOGY

  The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

• 2016-04-01 NEUROMUSCULAR DISORDERS

  Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

• 2016-06-01 NEUROMUSCULAR DISORDERS

  Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results

• 2015-04-01 NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

  Familial polyglucosan body myopathy with unusual phenotype

• 2014-09-01 OPHTHALMIC GENETICS

  Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant

• 2011-09-09 PLOS ONE

  Worsening of Cardiomyopathy Using Deflazacort in an Animal Model Rescued by Gene Therapy