Publications by authors named "Kathelijn Keymolen"

43Publications

An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis.

Am J Med Genet A 2020 05 14;182(5):1255-1258. Epub 2020 Mar 14.

Department of Obstetrics and Gynecology, University Hospital Brugmann, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.61535DOI Listing
May 2020

Fetal and neonatal neurogenetics.

Handb Clin Neurol 2019 ;162:105-132

Centre for Medical Genetics, Universitair Ziekenhuis Brussel, Brussel, Belgium.

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http://dx.doi.org/10.1016/B978-0-444-64029-1.00005-9DOI Listing
January 2020

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

Eur J Med Genet 2018 Dec 5;61(12):733-737. Epub 2018 Jun 5.

Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium; Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2018.06.001DOI Listing
December 2018

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

Eur J Hum Genet 2018 08 30;26(8):1132-1142. Epub 2018 Apr 30.

Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1038/s41431-018-0146-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057922PMC
August 2018

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

Minerva Pediatr 2018 Jun 8;70(3):225-232. Epub 2016 Sep 8.

Center for Medical Genetics, Reproduction Genetics, and Regenerative Medicine, Free University of Brussels (VUB), Brussels University Hospital, Brussels, Belgium.

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http://dx.doi.org/10.23736/S0026-4946.16.04570-9DOI Listing
June 2018

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

Neurol Genet 2016 Feb 7;2(1):e42. Epub 2016 Jan 7.

Vrije Universiteit Brussel (J.d.F.); Pediatric Neurology Unit (D.H.), Department of Pediatrics, Universitair Ziekenhuis Brussel; Centre for Medical Genetics/Research Centre Reproduction and Genetics (S.S., A.G., K.S., K.K.), Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel; and Department of Endocrinology and General Internal Medicine (B.V.), Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1212/NXG.0000000000000042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817896PMC
February 2016

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

J Cyst Fibros 2016 07 8;15(4):540-7. Epub 2016 Jan 8.

Department of Paediatrics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.jcf.2015.12.015DOI Listing
July 2016

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

Eur J Hum Genet 2016 Mar 3;24(3):400-7. Epub 2015 Jun 3.

Center for Medical Genetics, Reproduction and Genetics; Genetics and Regenerative Medicine, UZ Brussel, Vrije Universiteit Brussel (VUB), Brussels, Belgium.

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http://dx.doi.org/10.1038/ejhg.2015.125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755372PMC
March 2016

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

Prenat Diagn 2015 Jan 2;35(1):97-9. Epub 2014 Oct 2.

Department of Obstetrics and Gynecology, University Hospital Brugmann, Brussels, Belgium; Department of Obstetrics, Gynecology and Urologic Sciences, Sapienza University, Umberto I Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/pd.4490DOI Listing
January 2015

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.

Eur J Paediatr Neurol 2014 May 6;18(3):420-6. Epub 2013 Dec 6.

Paediatric Neurology Unit, Department of Paediatrics, UZ Brussel, Brussels, Belgium; Department of Public Health, Vrije Universiteit Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ejpn.2013.11.010DOI Listing
May 2014

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

Eur J Hum Genet 2012 Apr 9;20(4):376-80. Epub 2011 Nov 9.

Center for Medical Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, Brussel, Belgium.

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http://dx.doi.org/10.1038/ejhg.2011.208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306857PMC
April 2012

Pregnancy outcome in carriers of Robertsonian translocations.

Am J Med Genet A 2011 Oct 9;155A(10):2381-5. Epub 2011 Sep 9.

Department of Gynaecology and Obstetrics, UZ Brussel, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.33941DOI Listing
October 2011

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

J Neurol Sci 2011 Sep 14;308(1-2):162-4. Epub 2011 Jul 14.

Department of Neurology, UZ Brussel, Center for Neurosciences, Vrije universiteit Brussel (VUB), Brussels, Belgium.

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http://dx.doi.org/10.1016/j.jns.2011.06.014DOI Listing
September 2011

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

Neuromuscul Disord 2011 Aug 12;21(8):590-3. Epub 2011 Jun 12.

Department of Neurology, UZ Brussel, Vrije Universiteit Brussel (VUB), Belgium.

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http://dx.doi.org/10.1016/j.nmd.2011.05.006DOI Listing
August 2011

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

Invest Ophthalmol Vis Sci 2011 Jul 1;52(7):4774-9. Epub 2011 Jul 1.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.10-7128DOI Listing
July 2011

Floating-Harbor syndrome associated with middle ear abnormalities.

Am J Med Genet A 2010 Jan;152A(1):161-4

Department of Otolaryngology & Head and Neck Surgery, Vrije Universiteit Brussel, Laarbeeklaan 109, 1090 Jette, Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.33033DOI Listing
January 2010

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

Hum Reprod 2009 Sep 3;24(9):2365-71. Epub 2009 Jun 3.

Center for Medical Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090 Brussel, Belgium.

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http://dx.doi.org/10.1093/humrep/dep201DOI Listing
September 2009

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

Eur J Hum Genet 2007 Jul 18;15(7):752-8. Epub 2007 Apr 18.

Centre for Medical Genetics, Vrije Universiteit Brussel, Belgium.

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http://dx.doi.org/10.1038/sj.ejhg.5201834DOI Listing
July 2007

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

Eur J Hum Genet 2007 Jun 14;15(6):638-45. Epub 2007 Mar 14.

Department of Pediatrics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201813DOI Listing
June 2007

Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.

Neuromuscul Disord 2006 Jan 20;16(1):19-25. Epub 2005 Dec 20.

Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Institute Born-Bunge, University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium.

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http://dx.doi.org/10.1016/j.nmd.2005.10.007DOI Listing
January 2006

Post-zygotic origin of isochromosome 12p.

Prenat Diagn 2004 Dec;24(12):984-8

Centre for Human Genetics, UZ Gasthuisberg, Katholieke Universiteit Leuven, Herestraat 49, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1002/pd.956DOI Listing
December 2004

Early onset Huntington disease: a neuronal degeneration syndrome.

Eur J Pediatr 2004 Dec;163(12):717-21

Department of Medical Genetics, AZ-VUB, Laarbeeklaan 101, 1090 Brussels, Belgium.

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http://dx.doi.org/10.1007/s00431-004-1537-3DOI Listing
December 2004

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

Hum Mol Genet 2003 Jun;12(12):1439-47

Institut für Biochemie, Universität Erlangen, D-91054 Erlangen, Germany.

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http://dx.doi.org/10.1093/hmg/ddg158DOI Listing
June 2003

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

Hum Reprod 2002 Oct;17(10):2600-14

Centre for Medical Genetics and Centre for Reproductive Medicine, Dutch-speaking Brussels Free University (Vrije Universiteit Brussel), Belgium.

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http://dx.doi.org/10.1093/humrep/17.10.2600DOI Listing
October 2002