Lista de obras - Giulio Piluso - Dominio Público Uruguay

A missense mutation in CASK causes FG syndrome in an Italian family

artículo científico publicado en 2009

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

artículo científico publicado en 2020

A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1

scientific article published on 12 November 2015

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

artículo científico publicado en 2015

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

artículo científico publicado en 2019

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

artículo científico publicado en 2011

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

artículo científico publicado en 2018

Enhancer chip: detecting human copy number variations in regulatory elements

artículo científico publicado en 2012

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

artículo científico publicado en 2016

Familial trisomy 6p in mother and daughter

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype

artículo científico publicado en 2022

Giant 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.

artículo científico publicado en 2014

Identification of a DNA Binding Protein Cooperating with Estrogen Receptor as RIZ (Retinoblastoma Interacting Zinc Finger Protein)

scientific article published in 1999

Identification of a functional estrogen-responsive enhancer element in the promoter 2 of PRDM2 gene in breast cancer cell lines.

artículo científico publicado en 2012

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

artículo científico publicado en 2016

Identification of the Syrian hamster cardiomyopathy gene.

artículo científico publicado en 1997

Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell

artículo científico publicado en 1998

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

artículo científico publicado en 2014

Lack of replication of genetic associations with human longevity

scientific article published on 23 November 2007

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

artículo científico publicado en 2011

Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations.

artículo científico publicado en 2008

Molecular and muscle pathology in a series of caveolinopathy patients

artículo científico publicado en 2005

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

artículo científico publicado en 2004

Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders

artículo científico publicado en 2011

Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.

artículo científico publicado en 2017

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

artículo científico

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.

artículo científico publicado en 2008

Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review

artículo científico publicado en 2022

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families

article

One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography

artículo científico publicado en 2009

Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing

artículo científico publicado en 2010

Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles

artículo científico publicado en 2003

Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects

artículo científico publicado en 2014

The fourth component of the sarcoglycan complex

artículo científico publicado en 1997

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

artículo científico publicado en 2016

Therapeutic homology-independent targeted integration in retina and liver

scientific article published on 12 April 2022

UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.

artículo científico publicado en 2017

Use of a lower dosage liver-detargeted AAV vector to prevent hamster muscular dystrophy

artículo científico publicado en 2013

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.

artículo científico publicado en 2018

Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy

artículo científico publicado en 2011

Lista de obras de Giulio Piluso

A missense mutation in CASK causes FG syndrome in an Italian family

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

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

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

Enhancer chip: detecting human copy number variations in regulatory elements

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

Familial trisomy 6p in mother and daughter

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype

Giant 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.

Identification of a DNA Binding Protein Cooperating with Estrogen Receptor as RIZ (Retinoblastoma Interacting Zinc Finger Protein)

Identification of a functional estrogen-responsive enhancer element in the promoter 2 of PRDM2 gene in breast cancer cell lines.

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

Identification of the Syrian hamster cardiomyopathy gene.

Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

Lack of replication of genetic associations with human longevity

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

Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations.

Molecular and muscle pathology in a series of caveolinopathy patients

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders

Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.

Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F

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

Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families

One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography

Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing

Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles

Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects

The fourth component of the sarcoglycan complex

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

Therapeutic homology-independent targeted integration in retina and liver

UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.

Use of a lower dosage liver-detargeted AAV vector to prevent hamster muscular dystrophy

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.

Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy