List of works - Silvestre Oltra

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

scientific article published on 21 April 2015

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 20 June 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.

scientific article published on January 2009

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

scientific article published on 16 September 2011

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

scientific article published on 8 August 2016

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

scientific article published on 01 March 2007

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

scientific article published on 15 April 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

scientific article published in February 2007

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

scientific article

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

scientific article

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

scientific article published on 7 February 2010

Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements

scientific article published in June 2006

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

scientific article

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

scientific article

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

scientific article published on 12 September 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

scientific article published on 05 January 2012

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

scientific article published in November 2006

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

scientific article published on 27 May 2015

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

scientific article published on 22 March 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.

scientific article

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

scientific article published in December 2004

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

scientific article published on 27 September 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.

scientific article

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

scientific article published on 01 February 2008

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

scientific article

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

scientific article

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

scientific article published on 24 October 2016

Neuroblastoma

scientific article published on 01 April 2005

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

scientific article published on 22 July 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

scientific article published on 13 January 2011

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

scientific article published on 18 April 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

scientific article published on 29 December 2009

Prevalence of germline MUTYH mutations among Lynch-like syndrome patients

scientific article published on 18 June 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.

scientific article published in January 2006

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

scientific article published on 18 June 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

scientific article published in January 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.

scientific article published on 4 October 2006

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

scientific article published on 31 August 2009

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

scientific article

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

scientific article published on 24 October 2015

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

scientific article published on 23 December 2009

WT1 isoform expression pattern in acute myeloid leukemia

scientific article published on 22 October 2013

List of works by 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