D'Hooghe Archives

Erfelijke stofwisselingsziekten

De stofwisseling speelt een cruciale rol in het lichaam. Erfelijke aandoeningen kunnen stofwisselingsprocessen op zeer verschillende wijze verstoren. Hoewel de meeste metabole aandoeningen op zich zeldzaam zijn, vormen ze als geheel toch een belangrijke groep. … Lees meer

azlink 32, oktober 2016 Neurologie dr. Marc D'Hooghe

Medical mystery: intrauteriene groeiretardatie

Bij een zwangere dame bemerkt de gynaecoloog een belangrijke intrauteriene groeiretardatie. Antenatale echografie kan geen definitief uitsluitsel geven over de ernst en het type van placentaire abnormaliteit die wordt vermoed.

azlink 13, mei 2010 Neonatologie, Neurologie, Radiologie en Medische Beeldvorming dr. Kenneth Coenegrachts, prof. dr. Luc Cornette, dr. Marc D'Hooghe

Neurocutaneous Disorders / RNA and DNA in Pediatric Neurology.

22/09/2017

Epilepsy and Treatment, Movement Disorders and Neuro-Oncology.

Brussel
14/10/2016

What’s New in Cognitive Disorders?

Brussel
13/05/2016

Bridging Worlds; Child Neurology from a Global Perspective.

Amsterdam
01-05/05/2016

Aangeboren Metabole Aandoeningen (IEM) bij Kinderen en Volwassenen.

Brugge
01/01/2017

Facio-Scapulo-Humeral Dystrophy.

Mons
17/02/2017

Electro-encephalography in childhood migraine can be useful.

Brugge
22/09/2017

Complex phenotype associated with mutation in the TANGO2 gene.

Lyon, France
20-24/06/2017

A multi exons deletion in the TANGO2 gene region is a recurrent cause of its functional defect.

Copenhagen, Denmark
27-30/05/2017

TuberOus Sclerosis registry to increase disease Awareness (TOSCA): Baseline Data for the Belgian Cohort.

Brussel
21/04/2017

Case report: potential hazards of betaine by a pyridoxine nonresponsive cystathionine beta-synthase deficiency.

Rome
6-9/09/2016

New treatment strategies in pediatric neurology.

Gent
24/04/2015

ee broers met progressieve ataxie na 20-jarige leeftijd t.g.v. een recent ontdekte genetische aandoening.

UZ Gent
26/03/2015

Clues to Molecular Genetic Diagnosis in Malformations of Cortical Development.

Brugge
30/01/2015

Pathogenic mutations in the mitochondrial alanyl tRNA synthetase (AARS2) gene of an adult patient.

Finland
15-19/06/2014

The search for the unknown gene: from symptomatology to causative gene defect. Recent advances in neurogenetics, illustrated with practice examples.

AZ Sint-Jan te Brugge
21/02/2014

Development of an S-G2 micronucleus assay for the detection of in vitro chromosomal radiosensitivity in high-risk women subjected to early mammography screening for breast cancer.

Abstract on 18th World Congress on Advances in Oncology and 16th International Symposium on Molecular Medicine" October 2013 , Crete, Greece.
10/2013

Round Table on sulthiame in childhood epilepsy.

10th European Paediatric Neurology Society Congress 2013 - 25-28 September 2013 – Brussels.
25-28/09/2013

Parallel session on Fetal and Neonatal Neurology.

10th European Paediatric Neurology Society Congress 2013 - 25-28 September 2013 – Brussels.
25-28/09/2013

Short case report: Aicardi syndrome.

10th European Paediatric Neurology Society Congress 2013 - 25-28 September 2013 – Brussels.
25-28/09/2013

Update Mitochondriale Aandoeningen.

Wetenschappelijke stafvergadering van de dienst neurologie van het AZ Sint-Jan te Brugge op vrijdag 29/3/2013.
29/03/2013

Toon meer

Update of the Pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.

Hum Mutat. 2012 Aug;33(8):1161-5. doi: 10.1002/humu.22108.
29.05.2013

Characteristics of early MRI in children and adolescents with vanishing white matter.

Neuropediatrics. 2012 Feb;43(1):22-6.
19.03.2013

Autumn meeting of the Belgian Society of Pediatric Neurology:‘Spinal cord and plexus’

op 19 oktober 2012 in Novotel Ieper Flanders Fields
19.10.2012

Methylation defect in imprinted genes detected in patients with an Albright’s hereditary osteodystrophy like phenotype and platelet Gs hypofunction.

PLoS One. 2012;7(6):e38579.
05.06.2012

Ataxia-Telangiectasia: classic type and milder variants

op 16 maart 2012 in AZ St.Jan Brugge en op 22 maart in UZ Gent
16.03.2012

X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation.

Eur J Paediatr Neurol. 2012 Nov;16(6):730-5. doi: 10.1016/j.ejpn.2012.02.003.
06.03.2012

Intra-uteriene groeiretardatie, failure to thrive, convulsies en psychomotorische retardatie: het Wolf-Hirschhornsyndroom

Tijdschr. voor Geneeskunde, 68, nr. 18, 2012, 879-884 - doi: 10.2143/TVG.68.18.2001255
01.01.2012

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.

Brain. 2017 Nov 27. doi: 10.1093/brain/awx314.
27/11/2017

» http://www.ncbi.nlm.nih.gov/pubmed/

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

Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.
01/01/2017

» http://www.ncbi.nlm.nih.gov/pubmed/

Autumn meeting of the Belgian Society of Pediatric Neurology:‘Cerebro-vascular disorders in children’

op 18 november 2011 in Cliniques universitaires Saint-Luc, UCL, Brussel
18.11.2011

X-linked sideroblastic anaemia and ataxia

op 18 maart 2011 in AZ St.Jan Brugge en op 24 maart in UZ Gent
18.03.2011

Sint-Janscolloqium op 23/11/2010. Rode vlaggen en vuistregels in de kinderneurologie.

Brugge, Belgium
23.11.2010

Sint-Janscolloqium: het neurologisch onderzoek.

Brugge, Belgium
23.11.2010

the Autumn Meeting of the Belgian Society of Pediatric Neurology (BSPN) Brussel 19/11/2010. New Insights in Neonatal Neurology.

Hôpital Erasme, ULB, Brussel
19.11.2010

Fluoxetine in progressive multiple sclerosis (FLUOX-PMS): study protocol for a randomized controlled trial.

Trials 2014;15(1):37.
01/01/2014

Stafvergadering Neurologie AZ Sint-Jan, Brugge 04/06/2010. Amplitude-integrated EEGs in the Newborn.

Brugge, Belgium
04.06.2010

The Spring Meeting of the Belgian Society of Pediatric Neurology BSPN)Gent 23/04/2010). Molecular Targeting Therapy in Central Nervous System Disorders.

Gent, Belgium
23.04.2010

Fetal MRI of the placenta in extreme early onset IUGR

Prenat Diagn 2010;30:384-386
01.01.2010

Treatment and long term outcome in west syndrome: The clinical reality. A multicentre follow up study.

Seizure. 2010;19:159-164
01.01.2010

Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.

Neurology. 2014 May 13;82(19):1749-50. doi: 10.1212/WNL.0000000000000416. Epub 2014 Apr 9.
09/04/2014

X-Linked Sideroblastic Anemia and Ataxia.

Seattle (WA): University of Washington, Seattle; 1993-2014.
03/04/2014

Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.

Neuromolecular Med. 2013 Sep;15(3):447-57. doi: 10.1007/s12017-013-8231-4. Epub 2013 Apr 30.
15/09/2013

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3.
07/2013

Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders.

Am J Hum Genet 2007;81:104–113
01.01.2007

Methylation defect in imprinted genes detected in patients with an Albright’s hereditary osteodystrophy like phenotype and platelet Gs hypofunction.

PLoS One. 2012;7(6):e38579. doi: 10.1371/journal.pone.0038579
05/06/2012

Toon meer

dr. Marc D'Hooghe

Neurologie

Artikels [ 2 resultaten ]

Presentaties [ 21 resultaten ]

Neurocutaneous Disorders / RNA and DNA in Pediatric Neurology.

Epilepsy and Treatment, Movement Disorders and Neuro-Oncology.

What’s New in Cognitive Disorders?

Bridging Worlds; Child Neurology from a Global Perspective.

Aangeboren Metabole Aandoeningen (IEM) bij Kinderen en Volwassenen.

Facio-Scapulo-Humeral Dystrophy.

Electro-encephalography in childhood migraine can be useful.

Complex phenotype associated with mutation in the TANGO2 gene.

A multi exons deletion in the TANGO2 gene region is a recurrent cause of its functional defect.

TuberOus Sclerosis registry to increase disease Awareness (TOSCA): Baseline Data for the Belgian Cohort.

Case report: potential hazards of betaine by a pyridoxine nonresponsive cystathionine beta-synthase deficiency.

New treatment strategies in pediatric neurology.

ee broers met progressieve ataxie na 20-jarige leeftijd t.g.v. een recent ontdekte genetische aandoening.

Clues to Molecular Genetic Diagnosis in Malformations of Cortical Development.

Pathogenic mutations in the mitochondrial alanyl tRNA synthetase (AARS2) gene of an adult patient.

The search for the unknown gene: from symptomatology to causative gene defect. Recent advances in neurogenetics, illustrated with practice examples.

Development of an S-G2 micronucleus assay for the detection of in vitro chromosomal radiosensitivity in high-risk women subjected to early mammography screening for breast cancer.

Round Table on sulthiame in childhood epilepsy.

Parallel session on Fetal and Neonatal Neurology.

Short case report: Aicardi syndrome.

Update Mitochondriale Aandoeningen.

Publicaties [ 25 resultaten ]

Update of the Pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.

Characteristics of early MRI in children and adolescents with vanishing white matter.

Autumn meeting of the Belgian Society of Pediatric Neurology:‘Spinal cord and plexus’

Methylation defect in imprinted genes detected in patients with an Albright’s hereditary osteodystrophy like phenotype and platelet Gs hypofunction.

Ataxia-Telangiectasia: classic type and milder variants

X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation.

Intra-uteriene groeiretardatie, failure to thrive, convulsies en psychomotorische retardatie: het Wolf-Hirschhornsyndroom

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.

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

Autumn meeting of the Belgian Society of Pediatric Neurology:‘Cerebro-vascular disorders in children’

X-linked sideroblastic anaemia and ataxia

Sint-Janscolloqium op 23/11/2010. Rode vlaggen en vuistregels in de kinderneurologie.

Sint-Janscolloqium: het neurologisch onderzoek.

the Autumn Meeting of the Belgian Society of Pediatric Neurology (BSPN) Brussel 19/11/2010. New Insights in Neonatal Neurology.

Fluoxetine in progressive multiple sclerosis (FLUOX-PMS): study protocol for a randomized controlled trial.

Stafvergadering Neurologie AZ Sint-Jan, Brugge 04/06/2010. Amplitude-integrated EEGs in the Newborn.

The Spring Meeting of the Belgian Society of Pediatric Neurology BSPN)Gent 23/04/2010). Molecular Targeting Therapy in Central Nervous System Disorders.

Fetal MRI of the placenta in extreme early onset IUGR

Treatment and long term outcome in west syndrome: The clinical reality. A multicentre follow up study.

Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.

X-Linked Sideroblastic Anemia and Ataxia.

Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders.

Methylation defect in imprinted genes detected in patients with an Albright’s hereditary osteodystrophy like phenotype and platelet Gs hypofunction.