Lista de obras -

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

artículo científico publicado en 2000

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients

artículo científico publicado en 2003

A young female with asymmetric manifestations of larsen syndrome: another example of unilateral somatic cell-line mosaicism.

artículo científico publicado en 2000

Adducted thumbs: a clinical clue to genetic diagnosis.

artículo científico publicado en 2012

Advances in prenatal screening: the ethical dimension.

artículo científico publicado en 2011

Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes

artículo científico publicado en 2015

Anencephaly in monozygotic twins and recurrence risk

scientific article published on 01 August 1998

Birth defects after incestuous mating: calculating the probability of causality and reflecting on the desirability of genetic testing.

artículo científico publicado en 2013

CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior.

artículo científico publicado en 2003

Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination

artículo científico publicado en 2015

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

artículo científico publicado en 2005

Clinical study and haplotype analysis in two brothers with Partington syndrome.

artículo científico publicado en 2002

Cognitive and behavioral characteristics in 4 affected males of a family with non-specific X-linked mental retardation and TM4 SF2-gene mutation.

artículo científico publicado en 2002

Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.

artículo científico publicado en 2010

Congenital hydrocephalus in clinical practice: a genetic diagnostic approach.

artículo científico publicado en 2011

De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly.

artículo científico publicado en 1998

De novo SPAST mutations may cause a complex SPG4 phenotype

artículo científico publicado en 2019

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

scientific article published on 21 August 2019

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

artículo científico publicado en 2007

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome.

artículo científico publicado en 2011

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects

scientific article published on 15 April 2014

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

artículo científico publicado en 2014

Holoprosencephaly: the Maastricht experience

artículo científico publicado el 1 de enero de 2001

In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells

artículo científico publicado en 2014

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.

artículo científico publicado en 2003

LPS-induced chorioamnionitis and antenatal corticosteroids modulate Shh signaling in the ovine fetal lung.

artículo científico publicado en 2012

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

artículo científico publicado en 2007

Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene

artículo científico publicado en 2000

NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation

artículo científico publicado en 2001

Non-invasive prenatal diagnosis for aneuploidy: toward an integral ethical assessment.

artículo científico publicado en 2011

Non-invasive prenatal testing: ethical issues explored

artículo científico publicado en 2009

Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012

artículo científico publicado en 2013

Osteopathia striata with cranial sclerosis owing to WTX gene defect.

artículo científico publicado en 2010

Partial trisomy and partial monosomy of the distal long arm of chromosome 4: patient report and literature review.

artículo científico publicado en 1996

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

article

Tetralogy of Fallot with coronary artery to pulmonary artery fistula

artículo científico publicado en 2014

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

artículo científico publicado en 2016

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus

scientific article published on 12 January 2019

Variable expression of phenotype in offspring with partial monosomy 7q and partial trisomy 8p in a family with a rcp (7;8)(134;p12) translocation

artículo científico publicado en 1996

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

scientific journal article

Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations.

artículo científico publicado en 2001

[What if the sperm donor has a hereditary disease? Informed consent needed for sharing medical information]

article

Lista de obras de

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients

A young female with asymmetric manifestations of larsen syndrome: another example of unilateral somatic cell-line mosaicism.

Adducted thumbs: a clinical clue to genetic diagnosis.

Advances in prenatal screening: the ethical dimension.

Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes

Anencephaly in monozygotic twins and recurrence risk

Birth defects after incestuous mating: calculating the probability of causality and reflecting on the desirability of genetic testing.

CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior.

Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

Clinical study and haplotype analysis in two brothers with Partington syndrome.

Cognitive and behavioral characteristics in 4 affected males of a family with non-specific X-linked mental retardation and TM4 SF2-gene mutation.

Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.

Congenital hydrocephalus in clinical practice: a genetic diagnostic approach.

De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly.

De novo SPAST mutations may cause a complex SPG4 phenotype

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome.

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

Holoprosencephaly: the Maastricht experience

In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.

LPS-induced chorioamnionitis and antenatal corticosteroids modulate Shh signaling in the ovine fetal lung.

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene

NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation

Non-invasive prenatal diagnosis for aneuploidy: toward an integral ethical assessment.

Non-invasive prenatal testing: ethical issues explored

Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012

Osteopathia striata with cranial sclerosis owing to WTX gene defect.

Partial trisomy and partial monosomy of the distal long arm of chromosome 4: patient report and literature review.

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Tetralogy of Fallot with coronary artery to pulmonary artery fistula

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus

Variable expression of phenotype in offspring with partial monosomy 7q and partial trisomy 8p in a family with a rcp (7;8)(134;p12) translocation

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations.

[What if the sperm donor has a hereditary disease? Informed consent needed for sharing medical information]