Lista de obras - Rossella Tupler - Dominio Público Uruguay

A 5-year clinical follow-up study from the Italian National Registry for FSHD

artículo científico publicado en 2020

A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1 ⬇️

artículo científico publicado el 1 de abril de 1992

A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene

artículo científico publicado en 1993

A locus for migraine without aura maps on chromosome 14q21.2-q22.3.

artículo científico publicado en 2002

A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene

artículo científico publicado en 1992

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

artículo científico publicado en 2010

A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity.

artículo científico publicado en 1997

Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1)

artículo científico publicado en 2013

Altered gene silencing and human diseases

artículo científico publicado en 2006

An analysis of Xq deletions

An integrated approach in a case of facioscapulohumeral dystrophy

artículo científico publicado en 2014

Comment on 'Huntington's disease presenting as ALS'.

artículo científico publicado en 2010

Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach

artículo científico publicado en 2022

D.I.2 Facioscapulohumeral muscular dystrophy: Transition from a mendelian trait to a complex genetic disease?

D.P.1.04 Size and number of D4Z4 alleles play a role in FSHD phenotype

Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts

artículo científico publicado en 1989

Engraftment of embryonic stem cell-derived myogenic progenitors in a dominant model of muscular dystrophy

artículo científico publicado en 2009

Expressing the human genome

artículo científico publicado en 2001

FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1).

artículo científico publicado en 2015

Facioscapulohumeral Muscular Dystrophy Type 1A in Northwestern Tuscany: A Molecular Genetics-based Epidemiological and Genotype–Phenotype Study

article

Facioscapulohumeral Muscular Dystrophy and Occurrence of Heart Arrhythmia

scientific article published on 27 June 2006

Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function

artículo científico publicado en 2007

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

artículo científico publicado en 2006

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

scientific article published on 03 January 2012

G.P.13.04 Genetic and ultrastructural findings in Selenoprotein N1-related congenital myopathies

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder

artículo científico publicado en 1990

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

artículo científico publicado en 1998

Inappropriate Gene Activation in FSHD

artículo científico publicado en 2002

Interphase cytogenetics of the ICF syndrome

artículo científico publicado en 1992

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

artículo científico publicado en 2020

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

artículo científico publicado en 2013

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

artículo científico publicado en 2012

M.P.1.13 Novel mitochondrial tRNA LEU(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype

Molecular analysis of a human Y;1 translocation in an azoospermic male.

artículo científico publicado en 1994

Molecular basis of facioscapulohumeral muscular dystrophy

artículo científico publicado en 2004

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy

artículo científico publicado en 1996

New molecular findings in congenital myopathies due to selenoprotein N gene mutations.

artículo científico publicado en 2011

Novel mitochondrial tRNALeu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype

scientific article published on 14 March 2008

Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome ⬇️

artículo científico publicado el 1 de enero de 1992

Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy

artículo científico publicado en 1999

RNA interference improves myopathic phenotypes in mice over-expressing FSHD region gene 1 (FRG1).

artículo científico publicado en 2011

Response

Ring chromosome 9 with a 9p22.3-p24.3 duplication

artículo científico publicado en 1999

Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes

artículo científico publicado en 2012

Structural and functional alterations of muscle fibres in the novel mouse model of facioscapulohumeral muscular dystrophy

T.P.35 FHL1 is beneficial in reducing muscle wasting in dystrophic FRG1 mice

The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease

scientific article published in 2021

The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.

artículo científico publicado en 2010

Transcriptional derepression as a cause of genetic diseases

artículo científico publicado en 2003

When enough is enough: genetic diseases associated with transcriptional derepression

artículo científico publicado en 2004

Lista de obras de Rossella Tupler

A 5-year clinical follow-up study from the Italian National Registry for FSHD

A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1 ⬇️

A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene

A locus for migraine without aura maps on chromosome 14q21.2-q22.3.

A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity.

Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1)

Altered gene silencing and human diseases

An analysis of Xq deletions

An integrated approach in a case of facioscapulohumeral dystrophy

Comment on 'Huntington's disease presenting as ALS'.

Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach

D.I.2 Facioscapulohumeral muscular dystrophy: Transition from a mendelian trait to a complex genetic disease?

D.P.1.04 Size and number of D4Z4 alleles play a role in FSHD phenotype

Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts

Engraftment of embryonic stem cell-derived myogenic progenitors in a dominant model of muscular dystrophy

Expressing the human genome

FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1).

Facioscapulohumeral Muscular Dystrophy Type 1A in Northwestern Tuscany: A Molecular Genetics-based Epidemiological and Genotype–Phenotype Study

Facioscapulohumeral Muscular Dystrophy and Occurrence of Heart Arrhythmia

Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

G.P.13.04 Genetic and ultrastructural findings in Selenoprotein N1-related congenital myopathies

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

Inappropriate Gene Activation in FSHD

Interphase cytogenetics of the ICF syndrome

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

M.P.1.13 Novel mitochondrial tRNA LEU(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype

Molecular analysis of a human Y;1 translocation in an azoospermic male.

Molecular basis of facioscapulohumeral muscular dystrophy

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy

New molecular findings in congenital myopathies due to selenoprotein N gene mutations.

Novel mitochondrial tRNALeu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype

Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome ⬇️

Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy

RNA interference improves myopathic phenotypes in mice over-expressing FSHD region gene 1 (FRG1).

Response

Ring chromosome 9 with a 9p22.3-p24.3 duplication

Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes

Structural and functional alterations of muscle fibres in the novel mouse model of facioscapulohumeral muscular dystrophy

T.P.35 FHL1 is beneficial in reducing muscle wasting in dystrophic FRG1 mice

The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease

The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.

Transcriptional derepression as a cause of genetic diseases

When enough is enough: genetic diseases associated with transcriptional derepression