Lista de obras - Dilek Colak - Dominio Público Uruguay

A Network-Based Methodology to Identify Subnetwork Markers for Diagnosis and Prognosis of Colorectal Cancer

artículo científico publicado en 2021

A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.

artículo científico publicado en 2017

A novel APC mutation defines a second locus for Cenani-Lenz syndrome.

artículo científico publicado en 2015

A novel interstitial microdeletion of 7q22.1-7q22.3 detected by array comparative genomic hybridization

scientific article published on 14 October 2011

A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy

scientific journal article

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

scientific article published on 01 December 2018

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

publication published on 01 April 2021

Bidirectional crosstalk between PD-L1 expression and epithelial to mesenchymal transition: significance in claudin-low breast cancer cells

artículo científico publicado en 2015

Biomolecular Databases and Subnetwork Identification Approaches of Interest to Big Data Community: An Expert Review

scientific article published on 01 March 2019

Breast stromal fibroblasts from histologically normal surgical margins are pro-carcinogenic

artículo científico publicado en 2013

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

artículo científico publicado en 2011

Clinical and biochemical features associated with BCS1L mutation.

artículo científico publicado en 2012

Comparison of two dependent within subject coefficients of variation to evaluate the reproducibility of measurement devices.

artículo científico publicado en 2008

Deletion and Functional Analysis of Hepatitis B Virus X Protein: Evidence for an Effect on Cell Cycle Regulators

article

Deletion of low molecular weight protein tyrosine phosphatase (Acp1) protects against stress-induced cardiomyopathy.

artículo científico publicado en 2015

Dexamethasone-Induced Perturbations in Tissue Metabolomics Revealed by Chemical Isotope Labeling LC-MS analysis

artículo científico publicado en 2020

First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

artículo científico publicado en 2019

GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening

artículo científico publicado en 2011

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination

artículo científico publicado en 2019

Genetics of autism spectrum disorder: an update on copy number variations leading to autism in the next generation sequencing era.

artículo científico

Genome-wide expression profiling of patients with primary open angle glaucoma.

artículo científico publicado en 2012

Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways

scientific article published on 08 October 2010

High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.

artículo científico publicado en 2018

ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.

artículo científico publicado en 2014

Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia

artículo científico publicado en 2012

Identification of novel genomic imbalances in Saudi patients with congenital heart disease.

artículo científico publicado en 2018

Integrated Analysis of Transcriptomic and Genomic Data Reveals Blood Biomarkers With Diagnostic and Prognostic Potential in Non-small Cell Lung Cancer

artículo científico publicado en 2022

Integrated Genomic and Network-Based Analyses of Complex Diseases and Human Disease Network

artículo científico publicado en 2015

Integrated Left Ventricular Global Transcriptome and Proteome Profiling in Human End-Stage Dilated Cardiomyopathy

artículo científico publicado en 2016

Integrative and comparative genomics analysis of early hepatocellular carcinoma differentiated from liver regeneration in young and old

artículo científico publicado en 2010

KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

artículo científico publicado en 2016

Left ventricular global transcriptional profiling in human end-stage dilated cardiomyopathy

artículo científico publicado en 2009

Likelihood inference on the relative risk in split-cluster designs.

artículo científico publicado en 2011

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis

artículo científico publicado en 2013

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay

artículo científico publicado en 2013

Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.

artículo científico publicado en 2011

Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly

artículo científico publicado en 2014

Novel mutation in GLRB in a large family with hereditary hyperekplexia ⬇️

artículo científico publicado el 7 de abril de 2011

PD-L1 promotes OCT4 and Nanog expression in breast cancer stem cells by sustaining PI3K/AKT pathway activation

artículo científico publicado en 2017

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.

artículo científico publicado en 2011

Prevalence of PIK3CA mutations and the SNP rs17849079 in Arab breast cancer patients.

artículo científico publicado en 2013

Publisher Correction: RNA-Seq transcriptome profiling in three liver regeneration models in rats: comparative analysis of partial hepatectomy, ALLPS, and PVL

scientific article published on 05 May 2020

RNA-Seq transcriptome profiling in three liver regeneration models in rats: comparative analysis of partial hepatectomy, ALLPS, and PVL

artículo científico publicado en 2020

The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation

artículo científico publicado en 2017

Towards targeting PD-1/PD-L1 axis in breast cancer, pre-clinical data.

artículo científico publicado en 2015

Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial

artículo científico publicado en 2016

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

scientific article published on 31 January 2020

p16( INK4a) positively regulates cyclin D1 and E2F1 through negative control of AUF1.

artículo científico publicado en 2011

β1 Integrin is essential for fascin-mediated breast cancer stem cell function and disease progression

artículo científico publicado en 2019

Lista de obras de Dilek Colak

A Network-Based Methodology to Identify Subnetwork Markers for Diagnosis and Prognosis of Colorectal Cancer

A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.

A novel APC mutation defines a second locus for Cenani-Lenz syndrome.

A novel interstitial microdeletion of 7q22.1-7q22.3 detected by array comparative genomic hybridization

A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

Bidirectional crosstalk between PD-L1 expression and epithelial to mesenchymal transition: significance in claudin-low breast cancer cells

Biomolecular Databases and Subnetwork Identification Approaches of Interest to Big Data Community: An Expert Review

Breast stromal fibroblasts from histologically normal surgical margins are pro-carcinogenic

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Clinical and biochemical features associated with BCS1L mutation.

Comparison of two dependent within subject coefficients of variation to evaluate the reproducibility of measurement devices.

Deletion and Functional Analysis of Hepatitis B Virus X Protein: Evidence for an Effect on Cell Cycle Regulators

Deletion of low molecular weight protein tyrosine phosphatase (Acp1) protects against stress-induced cardiomyopathy.

Dexamethasone-Induced Perturbations in Tissue Metabolomics Revealed by Chemical Isotope Labeling LC-MS analysis

First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination

Genetics of autism spectrum disorder: an update on copy number variations leading to autism in the next generation sequencing era.

Genome-wide expression profiling of patients with primary open angle glaucoma.

Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways

High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.

ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.

Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia

Identification of novel genomic imbalances in Saudi patients with congenital heart disease.

Integrated Analysis of Transcriptomic and Genomic Data Reveals Blood Biomarkers With Diagnostic and Prognostic Potential in Non-small Cell Lung Cancer

Integrated Genomic and Network-Based Analyses of Complex Diseases and Human Disease Network

Integrated Left Ventricular Global Transcriptome and Proteome Profiling in Human End-Stage Dilated Cardiomyopathy

Integrative and comparative genomics analysis of early hepatocellular carcinoma differentiated from liver regeneration in young and old

KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

Left ventricular global transcriptional profiling in human end-stage dilated cardiomyopathy

Likelihood inference on the relative risk in split-cluster designs.

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay

Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.

Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly

Novel mutation in GLRB in a large family with hereditary hyperekplexia ⬇️

PD-L1 promotes OCT4 and Nanog expression in breast cancer stem cells by sustaining PI3K/AKT pathway activation

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.

Prevalence of PIK3CA mutations and the SNP rs17849079 in Arab breast cancer patients.

Publisher Correction: RNA-Seq transcriptome profiling in three liver regeneration models in rats: comparative analysis of partial hepatectomy, ALLPS, and PVL

RNA-Seq transcriptome profiling in three liver regeneration models in rats: comparative analysis of partial hepatectomy, ALLPS, and PVL

The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation

Towards targeting PD-1/PD-L1 axis in breast cancer, pre-clinical data.

Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

p16( INK4a) positively regulates cyclin D1 and E2F1 through negative control of AUF1.

β1 Integrin is essential for fascin-mediated breast cancer stem cell function and disease progression