Lista de obras -

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

artículo científico publicado en 2013

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

artículo científico publicado en 2006

A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformations

artículo científico publicado en 2005

AGORA, a data- and biobank for birth defects and childhood cancer.

artículo científico publicado en 2016

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

artículo científico publicado en 2008

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

artículo científico publicado en 2008

Assessment of parental mosaicism in -related epilepsy by single-molecule molecular inversion probes and next-generation sequencing

artículo científico publicado en 2018

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

scientific article published on 14 May 2019

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

artículo científico publicado en 2011

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

artículo científico publicado en 2008

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

scientific article published on 01 December 2019

Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies

artículo científico publicado en 2018

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

artículo científico publicado en 2011

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

artículo científico publicado en 2008

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.

artículo científico publicado en 2018

Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

artículo científico publicado en 2017

Common variants in DGKK are strongly associated with risk of hypospadias

scientific journal article

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome

artículo científico publicado en 2003

Current insights into renal ciliopathies: what can genetics teach us? ⬇️

artículo científico publicado el 25 de julio de 2012

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

artículo científico publicado en 2016

De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia

artículo científico publicado en 2016

Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene

artículo científico publicado en 2009

Diabetes-Induced Congenital Anomalies of the Kidney and Urinary Tract (CAKUT): Nurture and Nature at Work?

artículo científico publicado en 2015

Dimeric architecture of the human bumetanide-sensitive Na-K-Cl Co-transporter

artículo científico publicado en 2003

Early presentation of cystic kidneys in a family with a homozygousINVSmutation

Effects of chemical chaperones on partially retarded NaCl cotransporter mutants associated with Gitelman's syndrome in a mouse cortical collecting duct cell line

artículo científico publicado en 2004

Erratum: Corrigendum: Common variants in DGKK are strongly associated with risk of hypospadias

scholarly article published in Nature Genetics

Etiologies for seizures around the time of vaccination.

artículo científico publicado en 2014

Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasia

artículo científico publicado en 2002

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

artículo científico publicado en 2010

Exploration of gene-environment interactions, maternal effects and parent of origin effects in the etiology of hypospadias

artículo científico publicado en 2012

Focus on molecules: RPGRIP1

scientific article published on 08 April 2008

Functional implications of mutations in the human renal outer medullary potassium channel (ROMK2) identified in Bartter syndrome

artículo científico publicado en 2001

Functional models for congenital anomalies of the kidney and urinary tract

artículo científico publicado en 2014

Further delineation of the GDF6 related multiple synostoses syndrome.

artículo científico publicado en 2017

Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome

scientific article published on 01 July 2019

Genetic and in vivo determinants of glucocorticoid sensitivity in relation to clinical outcome of childhood nephrotic syndrome

artículo científico publicado en 2014

Genetic obesity: next-generation sequencing results of 1230 patients with obesity

artículo científico publicado en 2018

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

artículo científico publicado en 2021

Genetic, environmental, and epigenetic factors involved in CAKUT.

artículo científico

Genetics of Hypospadias: Are Single-Nucleotide Polymorphisms inSRD5A2,ESR1,ESR2, andATF3Really Associated with the Malformation?

article

Genetics of kidney disease in 2016: Ingenious tactics to unravel complex kidney disease genetics

artículo científico publicado en 2017

Genetics-first approach improves diagnostics of ESKD patients younger than 50 years

artículo científico publicado en 2020

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

artículo científico publicado en 2005

Joubert syndrome: genotyping a Northern European patient cohort

artículo científico publicado en 2015

KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16

artículo científico publicado en 2013

Massively parallel sequencing of ataxia genes after array-based enrichment

artículo científico publicado en 2010

Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case-control study.

artículo científico publicado en 2016

Meier-Gorlin syndrome

artículo científico publicado en 2015

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

artículo científico publicado en 2012

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

article

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

artículo científico publicado en 2007

Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters

artículo científico publicado en 2003

Mutations in the human TBX4 gene cause small patella syndrome

artículo científico publicado en 2004

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

artículo científico publicado en 2011

New molecular players facilitating Mg(2+) reabsorption in the distal convoluted tubule

artículo científico publicado en 2010

Next-generation sequencing for research and diagnostics in kidney disease

artículo científico publicado en 2014

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

artículo científico publicado en 2011

Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT)

scientific article published on 01 December 2011

Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1

article

Peripheral nerve involvement in spinocerebellar ataxias

scientific article published on 01 February 2004

Pre-pregnancy advice in chronic kidney disease: do not forget genetic counseling

scientific article published on 01 October 2016

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.

artículo científico publicado en 2016

Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations

artículo científico publicado en 2010

Risk factors for different phenotypes of hypospadias: results from a Dutch case-control study

artículo científico publicado en 2013

Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT).

artículo científico publicado en 2018

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

artículo científico publicado en 2010

The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis

artículo científico publicado en 2018

The epithelial Mg2+ channel transient receptor potential melastatin 6 is regulated by dietary Mg2+ content and estrogens

artículo científico publicado en 2006

The expanding phenotypic spectra of kidney diseases: insights from genetic studies

artículo científico publicado en 2016

The genomic landscape of CAKUT; you gain some, you lose some

artículo científico publicado en 2019

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

artículo científico publicado en 2013

The von Hippel-Lindau Gene Is Required to Maintain Renal Proximal Tubule and Glomerulus Integrity in Zebrafish Larvae

artículo científico publicado en 2018

Three-dimensional facial morphology in Cantú syndrome

artículo científico publicado en 2020

Treatment and long-term outcome in primary nephrogenic diabetes insipidus

artículo científico publicado en 2020

Whole-exome sequencing in pediatrics: parents' considerations toward return of unsolicited findings for their child

artículo científico publicado en 2016

Wnt5a Deficiency Leads to Anomalies in Ureteric Tree Development, Tubular Epithelial Cell Organization and Basement Membrane Integrity Pointing to a Role in Kidney Collecting Duct Patterning

artículo científico publicado en 2016

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

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformations

AGORA, a data- and biobank for birth defects and childhood cancer.

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

Assessment of parental mosaicism in -related epilepsy by single-molecule molecular inversion probes and next-generation sequencing

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.

Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Common variants in DGKK are strongly associated with risk of hypospadias

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome

Current insights into renal ciliopathies: what can genetics teach us? ⬇️

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia

Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene

Diabetes-Induced Congenital Anomalies of the Kidney and Urinary Tract (CAKUT): Nurture and Nature at Work?

Dimeric architecture of the human bumetanide-sensitive Na-K-Cl Co-transporter

Early presentation of cystic kidneys in a family with a homozygousINVSmutation

Effects of chemical chaperones on partially retarded NaCl cotransporter mutants associated with Gitelman's syndrome in a mouse cortical collecting duct cell line

Erratum: Corrigendum: Common variants in DGKK are strongly associated with risk of hypospadias

Etiologies for seizures around the time of vaccination.

Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasia

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

Exploration of gene-environment interactions, maternal effects and parent of origin effects in the etiology of hypospadias

Focus on molecules: RPGRIP1

Functional implications of mutations in the human renal outer medullary potassium channel (ROMK2) identified in Bartter syndrome

Functional models for congenital anomalies of the kidney and urinary tract

Further delineation of the GDF6 related multiple synostoses syndrome.

Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome

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

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome

Genetic and in vivo determinants of glucocorticoid sensitivity in relation to clinical outcome of childhood nephrotic syndrome

Genetic obesity: next-generation sequencing results of 1230 patients with obesity

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

Genetic, environmental, and epigenetic factors involved in CAKUT.

Genetics of Hypospadias: Are Single-Nucleotide Polymorphisms inSRD5A2,ESR1,ESR2, andATF3Really Associated with the Malformation?

Genetics of kidney disease in 2016: Ingenious tactics to unravel complex kidney disease genetics

Genetics-first approach improves diagnostics of ESKD patients younger than 50 years

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

Joubert syndrome: genotyping a Northern European patient cohort

KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16

Massively parallel sequencing of ataxia genes after array-based enrichment

Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case-control study.

Meier-Gorlin syndrome

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters

Mutations in the human TBX4 gene cause small patella syndrome

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

New molecular players facilitating Mg(2+) reabsorption in the distal convoluted tubule

Next-generation sequencing for research and diagnostics in kidney disease

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT)

Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1

Peripheral nerve involvement in spinocerebellar ataxias

Pre-pregnancy advice in chronic kidney disease: do not forget genetic counseling

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.

Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations

Risk factors for different phenotypes of hypospadias: results from a Dutch case-control study

Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT).

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis

The epithelial Mg2+ channel transient receptor potential melastatin 6 is regulated by dietary Mg2+ content and estrogens

The expanding phenotypic spectra of kidney diseases: insights from genetic studies

The genomic landscape of CAKUT; you gain some, you lose some

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

The von Hippel-Lindau Gene Is Required to Maintain Renal Proximal Tubule and Glomerulus Integrity in Zebrafish Larvae

Three-dimensional facial morphology in Cantú syndrome

Treatment and long-term outcome in primary nephrogenic diabetes insipidus

Whole-exome sequencing in pediatrics: parents' considerations toward return of unsolicited findings for their child