Lista de obras - Silvestre Oltra - Dominio Público Uruguay

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

artículo científico publicado en 2015

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

artículo científico publicado en 2006

Aberrant methylation of tumor suppressor genes in patients with refractory anemia with ring sideroblasts.

artículo científico publicado en 2010

Analysis of SNP rs16754 of WT1 gene in a series of de novo acute myeloid leukemia patients

article

Autosomal-dominant hypohidrotic ectodermal dysplasia caused by a novel mutation

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

artículo científico publicado en 2017

Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence

artículo científico publicado en 2013

Clinical findings and molecular characterization of six subtelomeric imbalances

scientific article published on 01 May 2007

Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44.

artículo científico publicado en 2009

De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation

artículo científico publicado en 2011

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

artículo científico publicado en 2016

Deleción subtelomérica 9qter: definición del síndrome y origen parental en 2 pacientes

artículo científico publicado en 2007

Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.

artículo científico publicado en 2008

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for theATRXgene

article

Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci

artículo científico publicado en 2007

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

artículo científico publicado en 2008

Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies

artículo científico publicado en 2010

Epigenetic alterations in disseminated neuroblastoma tumour cells: influence of TMS1 gene hypermethylation in relapse risk in NB patients.

artículo científico publicado en 2010

Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements

artículo científico publicado en 2006

Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.

artículo científico publicado en 2004

Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder

artículo científico publicado en 2015

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

artículo científico publicado en 2016

Hypermethylation of apoptotic genes as independent prognostic factor in neuroblastoma disease

article

Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features

artículo científico publicado en 2012

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

artículo científico publicado en 2006

In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients

artículo científico publicado en 2015

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.

artículo científico publicado en 2011

Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males.

artículo científico publicado en 2012

Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family

artículo científico publicado en 2004

MAGE-A1 expression is associated with good prognosis in neuroblastoma tumors

artículo científico publicado en 2008

Malignant melanoma of soft parts: A rare entity with a specific genetic marker

scientific article published on 01 May 2006

Minimal disease detection in peripheral blood and bone marrow from patients with non-metastatic neuroblastoma.

artículo científico publicado en 2011

Mutaciones de BRCA1 y BRCA2 en familias estudiadas en el Programa de Consejo Genético en el Cáncer de la Comunidad Valenciana

artículo científico publicado en 2008

Mutation screening of AURKB and SYCP3 in patients with reproductive problems.

artículo científico publicado en 2012

Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability

artículo científico publicado en 2004

Negative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS)

artículo científico publicado en 2016

Neuroblastoma

artículo científico publicado en 2005

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.

artículo científico publicado en 2015

NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

scientific article published on 01 March 2009

Partial Duplication of 18q Including a Distal Critical Region for Edwards Syndrome in a Patient with Normal Phenotype and Oligoasthenospermia: Case Report

artículo científico publicado en 2011

Phenotype profiling of patients with intellectual disability and copy number variations.

artículo científico publicado en 2014

Prenatal study of common submicroscopic “genomic disorders” using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester

artículo científico publicado en 2009

Prevalence of germline MUTYH mutations among Lynch-like syndrome patients

artículo científico publicado en 2014

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome

article

Rapid Screening of ASXL1, IDH1, IDH2, and c-CBL Mutations in de Novo Acute Myeloid Leukemia by High-Resolution Melting

scientific article published on 25 August 2012

Recombinant X chromosome in a prenatal diagnosis.

artículo científico publicado en 2006

Recurrent Testicular Germ Cell Tumors in a Family With MYH-Associated Polyposis

artículo científico publicado en 2012

Robust, Easy, and Dose-Sensitive Methylation Test for the Diagnosis of Prader–Willi and Angelman Syndromes

scientific article published on 01 January 2006

Screening for microdeletions of the X-chromosome in non-specific mental retardation

artículo científico publicado en 2004

Standardisation of operating procedures for the detection of minimal disease by QRT-PCR in children with neuroblastoma: quality assurance on behalf of SIOPEN-R-NET.

artículo científico publicado en 2006

Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.

artículo científico publicado en 2009

Subtelomeric analysis of pediatric astrocytoma: subchromosomal instability is a distinctive feature of pleomorphic xanthoastrocytoma.

artículo científico publicado en 2008

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

scientific journal article

TH and DCX mRNAs in peripheral blood and bone marrow predict outcome in metastatic neuroblastoma patients

artículo científico publicado en 2015

Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.

artículo científico publicado en 2009

WT1 isoform expression pattern in acute myeloid leukemia

artículo científico publicado en 2013

Lista de obras de Silvestre Oltra

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

Aberrant methylation of tumor suppressor genes in patients with refractory anemia with ring sideroblasts.

Analysis of SNP rs16754 of WT1 gene in a series of de novo acute myeloid leukemia patients

Autosomal-dominant hypohidrotic ectodermal dysplasia caused by a novel mutation

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence

Clinical findings and molecular characterization of six subtelomeric imbalances

Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44.

De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

Deleción subtelomérica 9qter: definición del síndrome y origen parental en 2 pacientes

Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for theATRXgene

Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies

Epigenetic alterations in disseminated neuroblastoma tumour cells: influence of TMS1 gene hypermethylation in relapse risk in NB patients.

Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements

Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.

Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

Hypermethylation of apoptotic genes as independent prognostic factor in neuroblastoma disease

Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.

Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males.

Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family

MAGE-A1 expression is associated with good prognosis in neuroblastoma tumors

Malignant melanoma of soft parts: A rare entity with a specific genetic marker

Minimal disease detection in peripheral blood and bone marrow from patients with non-metastatic neuroblastoma.

Mutaciones de BRCA1 y BRCA2 en familias estudiadas en el Programa de Consejo Genético en el Cáncer de la Comunidad Valenciana

Mutation screening of AURKB and SYCP3 in patients with reproductive problems.

Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability

Negative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS)

Neuroblastoma

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.

NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

Partial Duplication of 18q Including a Distal Critical Region for Edwards Syndrome in a Patient with Normal Phenotype and Oligoasthenospermia: Case Report

Phenotype profiling of patients with intellectual disability and copy number variations.

Prenatal study of common submicroscopic “genomic disorders” using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester

Prevalence of germline MUTYH mutations among Lynch-like syndrome patients

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome

Rapid Screening of ASXL1, IDH1, IDH2, and c-CBL Mutations in de Novo Acute Myeloid Leukemia by High-Resolution Melting

Recombinant X chromosome in a prenatal diagnosis.

Recurrent Testicular Germ Cell Tumors in a Family With MYH-Associated Polyposis

Robust, Easy, and Dose-Sensitive Methylation Test for the Diagnosis of Prader–Willi and Angelman Syndromes

Screening for microdeletions of the X-chromosome in non-specific mental retardation

Standardisation of operating procedures for the detection of minimal disease by QRT-PCR in children with neuroblastoma: quality assurance on behalf of SIOPEN-R-NET.

Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.

Subtelomeric analysis of pediatric astrocytoma: subchromosomal instability is a distinctive feature of pleomorphic xanthoastrocytoma.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

TH and DCX mRNAs in peripheral blood and bone marrow predict outcome in metastatic neuroblastoma patients

Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.

WT1 isoform expression pattern in acute myeloid leukemia