Lista de obras -

A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

artículo científico publicado en 2011

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

artículo científico publicado en 2011

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

artículo científico

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

artículo científico publicado en 2009

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

artículo científico publicado en 2009

Cellular ciliary phenotyping indicates pathogenicity of novel variants in and confirms a Mainzer-Saldino syndrome diagnosis

artículo científico publicado en 2018

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

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

artículo científico publicado en 2015

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

artículo científico publicado en 2016

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

artículo científico publicado en 2012

Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome

artículo científico publicado en 2013

Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1β mutations?

artículo científico publicado en 2013

Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome

artículo científico publicado en 2007

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

artículo científico publicado en 2013

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

artículo científico publicado en 2017

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

artículo científico publicado en 2009

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

artículo científico publicado en 2013

Genetic, environmental, and epigenetic factors involved in CAKUT.

artículo científico

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

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

artículo científico publicado en 2013

In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys

artículo científico publicado en 2003

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

artículo científico publicado en 2012

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

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

artículo científico publicado en 2016

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

artículo científico publicado en 2010

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

artículo científico publicado en 2005

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

artículo científico publicado en 2012

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

Nail-patella syndrome. Overview on clinical and molecular findings

artículo científico publicado en 2002

Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling

scientific article published on 18 September 2018

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

artículo científico publicado en 2008

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

artículo científico publicado en 2014

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

artículo científico publicado en 2012

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

artículo científico publicado en 2018

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

artículo científico publicado en 2013

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

artículo científico publicado en 2015

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

artículo científico publicado en 2017

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

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

artículo científico publicado en 2009

Lista de obras de

A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations

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

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

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

Cellular ciliary phenotyping indicates pathogenicity of novel variants in and confirms a Mainzer-Saldino syndrome diagnosis

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

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome

Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1β mutations?

Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

Genetic, environmental, and epigenetic factors involved in CAKUT.

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

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

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

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

Mutations in the human TBX4 gene cause small patella syndrome

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

Nail-patella syndrome. Overview on clinical and molecular findings

Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

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

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

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

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

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

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax