Lista de obras - Diana Baralle - Dominio Público Uruguay

'Next Generation Sequencing' as a diagnostic tool in paediatrics

artículo científico publicado en 2020

A case of the new overgrowth syndrome--macrocephaly with cutis marmorata, haemangioma and syndactyly.

artículo científico publicado en 2000

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

artículo científico publicado en 2005

A prospective study of neurofibromatosis type 1 cancer incidence in the UK.

artículo científico publicado en 2006

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

artículo científico publicado en 2019

A study of splicing mutations in disorders of sex development

artículo científico publicado en 2017

Alternative splicing: good and bad effects of translationally silent substitutions.

artículo científico publicado en 2010

An intronic mutation in MLH1 associated with familial colon and breast cancer.

artículo científico publicado en 2011

Anophthalmia in fronto-facial-nasal dysplasia.

artículo científico publicado en 2011

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

artículo científico publicado en 2004

BRCA1 EXON 11, a CERES (composite regulatory element of splicing) element involved in splice regulation

artículo científico publicado en 2014

BRCA1 exon 11 alternative splicing, multiple functions and the association with cancer.

artículo científico

Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity

artículo científico publicado en 2000

Chromosomal aberrations, subtelomeric defects, and mental retardation

artículo científico publicado en 2001

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

scientific article published on 23 March 2016

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

artículo científico publicado en 2014

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

artículo científico publicado en 2014

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

scientific article published on 01 April 2020

Craniomicromelic syndrome: report of a third case

Different mutations in the NF1 gene are associated with Neurofibromatosis–Noonan syndrome (NFNS) ⬇️

artículo científico publicado el 15 de mayo de 2003

Erratum: Corrigendum: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

article

Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11

artículo científico publicado en 2012

Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature

article

Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation.

artículo científico publicado en 2010

Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization

artículo científico publicado en 2006

Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

artículo científico publicado en 2017

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

article

Low U1 snRNP dependence at the NF1 exon 29 donor splice site

artículo científico publicado en 2009

Léri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: implications for genetic counselling

artículo científico publicado en 2000

Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing

scientific article published on 26 November 2019

Missed threads. The impact of pre-mRNA splicing defects on clinical practice.

artículo científico publicado en 2009

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

artículo científico

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

artículo científico publicado en 2004

Myoclonic movement disorder associated with microdeletion of chromosome 22q11.

artículo científico publicado en 2002

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

artículo científico publicado en 2016

Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain ⬇️

artículo científico publicado el 4 de enero de 2012

Novel aspects of alternative splicing

artículo científico publicado en 2010

PMS2 mutations in childhood cancer

artículo científico publicado en 2006

Pallister-Killian syndrome: a study of 22 British patients.

artículo científico publicado en 2015

Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1.

artículo científico publicado en 2008

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.

artículo científico publicado en 2011

RBFOX2 protein domains and cellular activities.

artículo científico publicado en 2014

RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases

artículo científico publicado en 2010

Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer).

artículo científico publicado en 2005

Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer).

artículo científico publicado en 2005

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

artículo científico publicado en 2008

Role of pseudoexons and pseudointrons in human cancer.

artículo científico

Splicing Mechanisms and Mutations in the NF1 Gene

article

Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.

artículo científico publicado en 2011

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

artículo científico publicado en 2018

hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes

artículo científico publicado en 2004

Lista de obras de Diana Baralle

'Next Generation Sequencing' as a diagnostic tool in paediatrics

A case of the new overgrowth syndrome--macrocephaly with cutis marmorata, haemangioma and syndactyly.

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

A prospective study of neurofibromatosis type 1 cancer incidence in the UK.

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

A study of splicing mutations in disorders of sex development

Alternative splicing: good and bad effects of translationally silent substitutions.

An intronic mutation in MLH1 associated with familial colon and breast cancer.

Anophthalmia in fronto-facial-nasal dysplasia.

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

BRCA1 EXON 11, a CERES (composite regulatory element of splicing) element involved in splice regulation

BRCA1 exon 11 alternative splicing, multiple functions and the association with cancer.

Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity

Chromosomal aberrations, subtelomeric defects, and mental retardation

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Craniomicromelic syndrome: report of a third case

Different mutations in the NF1 gene are associated with Neurofibromatosis–Noonan syndrome (NFNS) ⬇️

Erratum: Corrigendum: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11

Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature

Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation.

Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization

Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Low U1 snRNP dependence at the NF1 exon 29 donor splice site

Léri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: implications for genetic counselling

Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing

Missed threads. The impact of pre-mRNA splicing defects on clinical practice.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

Myoclonic movement disorder associated with microdeletion of chromosome 22q11.

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain ⬇️

Novel aspects of alternative splicing

PMS2 mutations in childhood cancer

Pallister-Killian syndrome: a study of 22 British patients.

Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1.

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.

RBFOX2 protein domains and cellular activities.

RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases

Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer).

Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer).

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Role of pseudoexons and pseudointrons in human cancer.

Splicing Mechanisms and Mutations in the NF1 Gene

Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes