Lista de obras -

A clinical scoring system for congenital contractural arachnodactyly

scientific article published on 18 July 2019

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

artículo científico publicado en 2007

A comparative evaluation of whey hydrolysate and whey-predominant formulas. How well do infants accept and tolerate them?

artículo científico publicado en 1993

A focused 35-minute whole body MRI screening protocol for patients with von Hippel-Lindau disease

scientific article published on 29 July 2019

A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature

scientific article published on 14 July 2011

A proposal for reproductive counselling in carriers of Robertsonian translocations: 10 years of experience with preimplantation genetic diagnosis.

artículo científico publicado en 2009

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors.

artículo científico publicado en 2013

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.

artículo científico publicado en 2011

Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations

scientific article published on 05 June 2018

Can clinical characteristics be criteria to perform chromosomal microarray-analysis in children and adolescents with autism spectrum disorders?

artículo científico publicado en 2016

Central nervous system gadolinium accumulation in patients undergoing periodical contrast MRI screening for hereditary tumor syndromes.

artículo científico publicado en 2018

Clinical outcome of preimplantation genetic diagnosis for cystic fibrosis: the Brussels' experience.

artículo científico publicado en 2007

Congenital hypertrichosis lanuginosa in a father and son

artículo científico publicado en 2011

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

artículo científico publicado en 2017

Dietary Intervention during Pregnancy and Allergic Diseases in the Offspring.

artículo científico publicado en 2005

Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity

artículo científico publicado en 2000

Expanding the clinical spectrum of biallelic ZNF335 variants.

artículo científico publicado en 2018

Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease

artículo científico publicado en 2019

Fetal and neonatal neurogenetics

scientific article published on 01 January 2019

Floating-Harbor syndrome associated with middle ear abnormalities.

artículo científico publicado en 2010

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

artículo científico publicado en 2016

Gastric emptying and gastro-oesophageal reflux in children with cystic fibrosis

artículo científico publicado en 2016

Glypican 1 gene: good candidate for brachydactyly type E.

artículo científico publicado en 2002

How to counsel in osteopathia striata with cranial sclerosis

artículo científico publicado en 1997

Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts

artículo científico publicado en 2022

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

artículo científico publicado en 2021

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

artículo científico

Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.

artículo científico publicado en 2010

Late onset painful cold-aggravated myotonia: three families with SCN4A L1436P mutation

artículo científico publicado en 2011

Legius syndrome in fourteen families.

artículo científico publicado en 2011

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia

artículo científico publicado en 2003

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

artículo científico publicado en 2016

Mild mental retardation and complex psychiatric symptoms are accompanied by submicroscopic sub-telomeric deletion of a long arm of chromosome 3. A case study

artículo científico publicado en 2007

Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders.

artículo científico publicado en 2004

Osteopathia striata with cranial sclerosis owing to WTX gene defect.

artículo científico publicado en 2010

Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report.

artículo científico publicado en 2017

Pediatric tracheotomy: the Universitair Ziekenhuis Brussels' experience.

artículo científico publicado en 2008

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter

artículo científico publicado en 2009

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Plasma amino acid concentrations in term-born infants fed a whey predominant or a whey hydrolysate formula.

artículo científico publicado en 1997

Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene.

artículo científico publicado en 2016

Post-zygotic origin of isochromosome 12p

scientific article published on 01 December 2004

Pregnancy outcome in carriers of Robertsonian translocations

scientific article published on 09 September 2011

Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles ⬇️

artículo científico publicado el 9 de noviembre de 2011

Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters

artículo científico publicado en 2002

Prenatally detected copy number variants in a national cohort: a postnatal follow-up study

artículo científico publicado en 2020

Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome

scientific article published on 02 October 2014

SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies

artículo científico publicado en 2015

Segmentary fibrous dysplasia manifesting as macrodactyly

scientific article published on 01 January 1999

Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism.

artículo científico publicado en 2000

Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome.

artículo científico publicado en 2007

Specific congenital malformations after exposure to cyclophosphamide, epirubicin and 5-fluorouracil during the first trimester of pregnancy

artículo científico publicado en 2010

The BElgian PREnatal MicroArray (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

article

The nutritional value of a whey hydrolysate formula compared with a whey-predominant formula in healthy infants

scientific article published on 01 July 1993

Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature.

artículo científico

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

scientific article published on 30 April 2018

Xeroderma pigmentosum and leukaemia in two sisters

artículo científico publicado en 2015

Lista de obras de

A clinical scoring system for congenital contractural arachnodactyly

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

A comparative evaluation of whey hydrolysate and whey-predominant formulas. How well do infants accept and tolerate them?

A focused 35-minute whole body MRI screening protocol for patients with von Hippel-Lindau disease

A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature

A proposal for reproductive counselling in carriers of Robertsonian translocations: 10 years of experience with preimplantation genetic diagnosis.

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors.

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.

Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations

Can clinical characteristics be criteria to perform chromosomal microarray-analysis in children and adolescents with autism spectrum disorders?

Central nervous system gadolinium accumulation in patients undergoing periodical contrast MRI screening for hereditary tumor syndromes.

Clinical outcome of preimplantation genetic diagnosis for cystic fibrosis: the Brussels' experience.

Congenital hypertrichosis lanuginosa in a father and son

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

Dietary Intervention during Pregnancy and Allergic Diseases in the Offspring.

Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity

Expanding the clinical spectrum of biallelic ZNF335 variants.

Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease

Fetal and neonatal neurogenetics

Floating-Harbor syndrome associated with middle ear abnormalities.

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

Gastric emptying and gastro-oesophageal reflux in children with cystic fibrosis

Glypican 1 gene: good candidate for brachydactyly type E.

How to counsel in osteopathia striata with cranial sclerosis

Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.

Late onset painful cold-aggravated myotonia: three families with SCN4A L1436P mutation

Legius syndrome in fourteen families.

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

Mild mental retardation and complex psychiatric symptoms are accompanied by submicroscopic sub-telomeric deletion of a long arm of chromosome 3. A case study

Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders.

Osteopathia striata with cranial sclerosis owing to WTX gene defect.

Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report.

Pediatric tracheotomy: the Universitair Ziekenhuis Brussels' experience.

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Plasma amino acid concentrations in term-born infants fed a whey predominant or a whey hydrolysate formula.

Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene.

Post-zygotic origin of isochromosome 12p

Pregnancy outcome in carriers of Robertsonian translocations

Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles ⬇️

Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters

Prenatally detected copy number variants in a national cohort: a postnatal follow-up study

Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome

SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies

Segmentary fibrous dysplasia manifesting as macrodactyly

Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism.

Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome.

Specific congenital malformations after exposure to cyclophosphamide, epirubicin and 5-fluorouracil during the first trimester of pregnancy

The BElgian PREnatal MicroArray (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

The nutritional value of a whey hydrolysate formula compared with a whey-predominant formula in healthy infants

Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature.

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

Xeroderma pigmentosum and leukaemia in two sisters