List of works - Kathelijn Keymolen

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.

scientific article published on 14 March 2007

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

scientific article published on 01 July 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.

scientific article published on 3 June 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.

scientific article published on 31 October 2013

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

scientific article published in June 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?

scientific article published on 8 September 2016

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

scientific article published on 5 January 2018

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

scientific article published on 18 April 2007

Congenital hypertrichosis lanuginosa in a father and son

scientific article published on 01 June 2011

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

scientific article published on March 2017

Dietary Intervention during Pregnancy and Allergic Diseases in the Offspring.

scientific article

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

scientific article published on 01 July 2000

Expanding the clinical spectrum of biallelic ZNF335 variants.

scientific article published on 13 April 2018

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

scientific article published on 01 May 2019

Fetal and neonatal neurogenetics

scientific article published on 01 January 2019

Floating-Harbor syndrome associated with middle ear abnormalities.

scientific article published in January 2010

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

scientific article published on 16 March 2016

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

scientific article published on 8 January 2016

Glypican 1 gene: good candidate for brachydactyly type E.

scientific article published in April 2002

How to counsel in osteopathia striata with cranial sclerosis

scientific article published on 01 January 1997

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

scientific article published in 2022

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

scientific article published on 30 November 2021

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

scientific article published on 15 February 2014

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

scientific article

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

scientific article published on 12 June 2011

Legius syndrome in fourteen families.

scientific article

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

scientific article published on 01 June 2003

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

scientific article published on 19 July 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

scientific article published in January 2007

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

scientific article

Osteopathia striata with cranial sclerosis owing to WTX gene defect.

scientific article published in January 2010

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

scientific article

Pediatric tracheotomy: the Universitair Ziekenhuis Brussels' experience.

scientific article published on January 2008

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

scientific article published on 01 May 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.

scientific article published in January 1997

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

scientific article published on 7 January 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 ⬇️

scientific article published on November 9, 2011

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

scientific article published on 01 October 2002

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

scientific article published on 21 May 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

scientific article published on 3 June 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.

scientific article published in April 2000

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

scientific article published in January 2007

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

scientific article published on 14 December 2010

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

article

The annual incidence of DiGeorge/velocardiofacial syndrome ⬇️

scientific article published on September 1, 1998

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.

scientific article published on 06 December 2013

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

scientific article published on 7 October 2015

List of works by Kathelijn Keymolen

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 annual incidence of DiGeorge/velocardiofacial syndrome ⬇️

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