Lista de obras - Carolien G de Kovel - Dominio Público Uruguay

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

artículo científico publicado en 2009

A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy

artículo científico publicado en 2014

A genome-wide association study of anorexia nervosa

artículo científico publicado en 2014

A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides

artículo científico publicado en 2014

A large-scale population study of early life factors influencing left-handedness

scientific article published in Scientific Reports

A novel mutation in NLRC4 in a large pedigree with an anakinra responsive autoinflammatory disease

artículo científico publicado en 2015

Association analysis of BRD2 (RING3) and epilepsy in a Dutch population.

artículo científico publicado en 2007

Association analysis of genetic variants in the myosin IXB gene in acute pancreatitis

artículo científico publicado en 2013

Association of the TGF-beta receptor genes with abdominal aortic aneurysm.

artículo científico publicado en 2009

Association study of TRPC4 as a candidate gene for generalized epilepsy with photosensitivity.

artículo científico publicado en 2010

Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.

artículo científico publicado en 2015

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

artículo científico publicado en 2015

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

artículo científico publicado en 2014

Clinical and genetic analysis of a family with two rare reflex epilepsies

artículo científico publicado en 2015

Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling

artículo científico publicado en 2009

Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.

artículo científico publicado en 2015

Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

artículo científico publicado en 2016

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

artículo científico publicado en 2016

Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays

artículo científico publicado en 2008

Effect of vaccinations on seizure risk and disease course in Dravet syndrome.

artículo científico publicado en 2015

Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

artículo científico publicado en 2015

Erythematous nodes, urticarial rash and arthralgias in a large pedigree withNLRC4-related autoinflammatory disease, expansion of the phenotype

artículo científico publicado en 2016

Etiologies for seizures around the time of vaccination.

artículo científico publicado en 2014

Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection

artículo científico publicado en 2010

Exome-Wide Association Analysis of Coronary Artery Disease in the Kingdom of Saudi Arabia Population

artículo científico publicado en 2016

Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.

artículo científico publicado en 2012

Genetic Factors for the Severity of ACPA-negative Rheumatoid Arthritis in 2 Cohorts of Early Disease: A Genome-wide Study.

artículo científico publicado en 2015

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

artículo científico publicado en 2017

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

artículo científico publicado en 2012

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

article

Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family

artículo científico publicado en 2004

Identification of Srp9 as a febrile seizure susceptibility gene

artículo científico publicado en 2014

Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2.

artículo científico publicado en 2004

Joubert syndrome: genotyping a Northern European patient cohort

artículo científico publicado en 2015

Left-Right Asymmetry of Maturation Rates in Human Embryonic Neural Development.

artículo científico publicado en 2017

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

artículo científico publicado en 2017

Overview of genetic research in anorexia nervosa: The past, the present and the future.

artículo científico

Phenotype of the neural tube defect mouse model bent tail is not sensitive to maternal folinic acid, myo-inositol, or zinc supplementation.

artículo científico publicado en 2003

Photoparoxysmal EEG response and genetic dissection of juvenile myoclonic epilepsy.

artículo científico

Pitfalls in genetic testing: the story of missed SCN1A mutations

artículo científico publicado en 2016

Polymorphisms in ACVRL1 and endoglin genes are not associated with sporadic and HHT-related brain AVMs in Dutch patients

artículo científico publicado en 2012

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy ⬇️

artículo científico publicado el 25 de enero de 2013

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

artículo científico publicado en 2009

Redefining headache diagnostic criteria as epileptic manifestation?

scientific article published on 14 February 2008

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

artículo científico publicado en 2015

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

artículo científico publicado en 2004

Subtle left-right asymmetry of gene expression profiles in embryonic and foetal human brains

scientific article published in Scientific Reports

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

artículo científico publicado en 2016

The canonical equation of adaptive dynamics for Mendelian diploids and haplo-diploids.

artículo científico publicado en 2013

The molecular genetics of hand preference revisited

article

The phenotypic spectrum of SCN8A encephalopathy

artículo científico publicado en 2015

The power of allele frequency comparisons to detect the footprint of selection in natural and experimental situations

scientific article published on January 2006

Transcriptomic analysis of left-right differences in human embryonic forebrain and midbrain

artículo científico publicado en 2018

Variants in neuropeptide Y receptor 1 and 5 are associated with nutrient-specific food intake and are under recent selection in Europeans.

artículo científico publicado en 2009

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

artículo científico publicado en 2012

Lista de obras de Carolien G de Kovel

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy

A genome-wide association study of anorexia nervosa

A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides

A large-scale population study of early life factors influencing left-handedness

A novel mutation in NLRC4 in a large pedigree with an anakinra responsive autoinflammatory disease

Association analysis of BRD2 (RING3) and epilepsy in a Dutch population.

Association analysis of genetic variants in the myosin IXB gene in acute pancreatitis

Association of the TGF-beta receptor genes with abdominal aortic aneurysm.

Association study of TRPC4 as a candidate gene for generalized epilepsy with photosensitivity.

Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

Clinical and genetic analysis of a family with two rare reflex epilepsies

Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling

Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.

Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays

Effect of vaccinations on seizure risk and disease course in Dravet syndrome.

Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

Erythematous nodes, urticarial rash and arthralgias in a large pedigree withNLRC4-related autoinflammatory disease, expansion of the phenotype

Etiologies for seizures around the time of vaccination.

Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection

Exome-Wide Association Analysis of Coronary Artery Disease in the Kingdom of Saudi Arabia Population

Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.

Genetic Factors for the Severity of ACPA-negative Rheumatoid Arthritis in 2 Cohorts of Early Disease: A Genome-wide Study.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family

Identification of Srp9 as a febrile seizure susceptibility gene

Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2.

Joubert syndrome: genotyping a Northern European patient cohort

Left-Right Asymmetry of Maturation Rates in Human Embryonic Neural Development.

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

Overview of genetic research in anorexia nervosa: The past, the present and the future.

Phenotype of the neural tube defect mouse model bent tail is not sensitive to maternal folinic acid, myo-inositol, or zinc supplementation.

Photoparoxysmal EEG response and genetic dissection of juvenile myoclonic epilepsy.

Pitfalls in genetic testing: the story of missed SCN1A mutations

Polymorphisms in ACVRL1 and endoglin genes are not associated with sporadic and HHT-related brain AVMs in Dutch patients

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy ⬇️

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Redefining headache diagnostic criteria as epileptic manifestation?

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

Subtle left-right asymmetry of gene expression profiles in embryonic and foetal human brains

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

The canonical equation of adaptive dynamics for Mendelian diploids and haplo-diploids.

The molecular genetics of hand preference revisited

The phenotypic spectrum of SCN8A encephalopathy

The power of allele frequency comparisons to detect the footprint of selection in natural and experimental situations

Transcriptomic analysis of left-right differences in human embryonic forebrain and midbrain

Variants in neuropeptide Y receptor 1 and 5 are associated with nutrient-specific food intake and are under recent selection in Europeans.

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face