Lista de obras - Sonia Mayo - 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

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 laboratory automated urinalysis: comparison among automated microscopy, flow cytometry, two test strips analyzers, and manual microscopic examination of the urine sediments

artículo científico publicado en 2008

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements

artículo científico publicado en 2012

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

artículo científico publicado en 2016

Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.

artículo científico publicado en 2012

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

article

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

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

artículo científico publicado en 2012

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes.

artículo científico publicado en 2016

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

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

artículo científico publicado en 2012

Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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 diagnosis of a female fetus with ring chromosome 9, 46,XX,r(9)(p24q34), and a de novo interstitial 9p deletion

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

The Arabidopsis heavy metal P-type ATPase HMA5 interacts with metallochaperones and functions in copper detoxification of roots.

artículo científico publicado en 2006

Lista de obras de Sonia Mayo

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

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 laboratory automated urinalysis: comparison among automated microscopy, flow cytometry, two test strips analyzers, and manual microscopic examination of the urine sediments

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements

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

Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.

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

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.

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

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

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

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes.

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.

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

Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.

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

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 diagnosis of a female fetus with ring chromosome 9, 46,XX,r(9)(p24q34), and a de novo interstitial 9p deletion

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

The Arabidopsis heavy metal P-type ATPase HMA5 interacts with metallochaperones and functions in copper detoxification of roots.

[Infantile epileptic encephalopathy: a good genetic study should be a priority]