Lista de obras - Carmen Orellana - Dominio Público Uruguay

A Novel Mutation of in a Patient with Schaaf-Yang Syndrome and Hypopituitarism

artículo científico publicado en 2018

A novel TP53 germ-line mutation identified in a girl with a primitive neuroectodermal tumor and her father.

artículo científico publicado en 1998

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 subtelomeric translocation apparently implied in multiple abortions.

artículo científico publicado en 2006

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

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

artículo científico publicado en 2018

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 2009

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

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

artículo científico publicado en 2018

Expression of aquaporins early in human pregnancy

artículo científico publicado en 2012

Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene.

artículo científico publicado en 2016

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

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

artículo científico publicado en 2015

Infectious and immunologic phenotype of MECP2 duplication syndrome

artículo científico publicado en 2015

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

Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.

artículo científico publicado en 2001

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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

Minimal residual disease in neuroblastoma: to GAGE or not to GAGE.

artículo científico publicado en 2004

Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

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

article

Rare chromosomal complement of trisomy 21 in a boy conceived by IVF and cryopreservation

artículo científico publicado en 2009

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

artículo científico publicado en 2013

Recombinant X chromosome in a prenatal diagnosis.

artículo científico publicado en 2006

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

scientific article published on 08 September 2018

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

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

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

The doublecortin gene, a new molecular marker to detect minimal residual disease in neuroblastoma

artículo científico publicado en 2005

There is no evidence that the SDHB gene is involved in neuroblastoma development.

artículo científico publicado en 2005

Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features.

artículo científico publicado en 2001

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

artículo científico publicado en 2009

[Multiple endocrine neoplasia type 1: genetic study of a large family]

scientific article published on 01 March 1999

Lista de obras de Carmen Orellana

A Novel Mutation of in a Patient with Schaaf-Yang Syndrome and Hypopituitarism

A novel TP53 germ-line mutation identified in a girl with a primitive neuroectodermal tumor and her father.

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

A subtelomeric translocation apparently implied in multiple abortions.

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.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

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

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

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Expression of aquaporins early in human pregnancy

Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene.

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

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

Infectious and immunologic phenotype of MECP2 duplication 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

Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.

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

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

Minimal residual disease in neuroblastoma: to GAGE or not to GAGE.

Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients

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

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

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

Rare chromosomal complement of trisomy 21 in a boy conceived by IVF and cryopreservation

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Recombinant X chromosome in a prenatal diagnosis.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

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

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

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

The doublecortin gene, a new molecular marker to detect minimal residual disease in neuroblastoma

There is no evidence that the SDHB gene is involved in neuroblastoma development.

Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features.

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

[Multiple endocrine neoplasia type 1: genetic study of a large family]