about
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1FInteraction of vault particles with estrogen receptor in the MCF-7 breast cancer cellLEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathiesExpanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing.Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy.Molecular and muscle pathology in a series of caveolinopathy patients.Identification of the Syrian hamster cardiomyopathy gene.Enhancer chip: detecting human copy number variations in regulatory elementsCombined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex.Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing resultsThe genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsA missense mutation in CASK causes FG syndrome in an Italian familyGiant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa-Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature.Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches.Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects.Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.Identification of a functional estrogen-responsive enhancer element in the promoter 2 of PRDM2 gene in breast cancer cell lines.Use of a lower dosage liver-detargeted AAV vector to prevent hamster muscular dystrophy.Molecular diagnosis in LGMD2A: mutation analysis or protein testing?One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders.UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations.Familial trisomy 6p in mother and daughterNovel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia familiesIdentification of a DNA Binding Protein Cooperating with Estrogen Receptor as RIZ (Retinoblastoma Interacting Zinc Finger Protein)The fourth component of the sarcoglycan complexCopy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic PatientsWhole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.Lack of replication of genetic associations with human longevityA novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders
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description
researcher, ORCID id # 0000-0001-9418-125X
@en
wetenschapper
@nl
name
Giulio Piluso
@ast
Giulio Piluso
@en
Giulio Piluso
@es
Giulio Piluso
@nl
type
label
Giulio Piluso
@ast
Giulio Piluso
@en
Giulio Piluso
@es
Giulio Piluso
@nl
prefLabel
Giulio Piluso
@ast
Giulio Piluso
@en
Giulio Piluso
@es
Giulio Piluso
@nl
P106
P1153
6603527210
P21
P31
P496
0000-0001-9418-125X