List of works by Dick Lindhout

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

scientific article

A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease

scientific article published on 01 March 2001

A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation.

scientific article published in January 2009

A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine

scientific article published on 17 January 2019

A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing

scientific article

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

scientific article

A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years

scientific article (publication date: May 2006)

A pre-visit tailored website enhances counselees’ realistic expectations and knowledge and fulfils information needs for breast cancer genetic counselling

scientific article published on 01 March 2012

A retrospective population-based study on seizures related to childhood vaccination

scientific article published on 21 June 2011

Adult patients with spina bifida cystica: genetic counselling, pregnancy and delivery.

scientific article published on November 1993

Advancing the phenome alongside the genome in epilepsy studies.

scientific article published on 31 May 2017

Amyoplasia congenita-like condition and maternal malathion exposure.

scientific article published in August 1987

An Insulin Receptor Mutant (Asp707→ Ala), Involved in Leprechaunism, Is Processed and Transported to the Cell Surface but Unable to Bind Insulin

scientific article published in Journal of Biological Chemistry

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Antiepileptic drug regimens and major congenital abnormalities in the offspring

scientific article published on 01 November 1999

Antiepileptic drugs during pregnancy and cognitive outcomes

scientific article published on 23 January 2013

Antiepileptic drugs in pregnancy: options for the prevention of congenital abnormalities

scientific article published on 01 January 2002

Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis

Association analysis of BRD2 (RING3) and epilepsy in a Dutch population.

scientific article published in November 2007

Association study of TRPC4 as a candidate gene for generalized epilepsy with photosensitivity.

scientific article

Atypical vitamin B6 deficiency: a rare cause of unexplained neonatal and infantile epilepsies

scientific article published on 10 October 2013

Behavioral problems in children of mothers with epilepsy prenatally exposed to valproate, carbamazepine, lamotrigine, or levetiracetam monotherapy

scientific article published on 01 June 2019

Benign familial infantile convulsions: a clinical study of seven Dutch families

scientific article published on 01 January 2002

Bilateral hereditary micro-epiphyseal dysplasia: further delineation of the phenotype with 40 years follow-up

scientific article published on 16 April 2002

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

scientific article

Carbamazepine- and oxcarbazepine-induced hyponatremia in people with epilepsy

scientific article published on 24 May 2017

Charcot-Marie-Tooth disease

scientific article

Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls.

scientific article published in July 2011

Clinical Findings with Implications for Genetic Testing in Families with Clustering of Colorectal Cancer

article by Juul T. Wijnen et al published 20 August 1998 in The New England Journal of Medicine

Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.

scientific article published on 15 June 2015

Complex cardiac defect with hypoplastic right ventricle in a fetus with valproate exposure.

scientific article published in February 2005

Concordance as well as discordance for congenital malformations in valproate-exposed half-siblings with parental consanguinity may indicate a specific gene-teratogen interaction.

scientific article

Copy number variations in patients with electrical status epilepticus in sleep

scientific article published on 27 September 2011

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

scientific article published on 6 October 2007

DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency

scientific article published on 01 May 1999

Diagnosis of fetal alcohol spectrum disorders

scientific article published on January 2010

Dose-dependent risk of malformations with antiepileptic drugs: an analysis of data from the EURAP epilepsy and pregnancy registry

scientific article

Drug monitoring of lamotrigine and oxcarbazepine combination during pregnancy

scientific article published on 3 November 2010

EURAP: an international registry of antiepileptic drugs and pregnancy

scientific article published on 01 November 2004

Effect of oral contraceptives on lamotrigine levels depends on comedication

scientific article published on 8 November 2013

Effect of vaccinations on seizure risk and disease course in Dravet syndrome.

scientific article published on 22 July 2015

Epidemiology, pathophysiology and putative genetic basis of carbamazepine- and oxcarbazepine-induced hyponatremia

scientific article

Epilepsy and unintended pregnancies

scientific article published on 25 January 2017

Epilepsy treatment: precision medicine at a crossroads

scientific article published on 01 December 2015

Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

scientific article published on 22 August 2015

Etiological aspects of congenital diaphragmatic hernia: results of a case comparison study

scientific article published on 01 October 1994

Etiologies for seizures around the time of vaccination.

scientific article published on 15 September 2014

Evidence for linkage between juvenile myoclonic epilepsy-related idiopathic generalized epilepsy and 6p11-12 in Dutch families

scientific article published on 01 March 2004

Exploration of a Putative Susceptibility Locus for Idiopathic Generalized Epilepsy on Chromosome 8p12

scientific article published on 01 January 2003

Exploration of the genetic architecture of idiopathic generalized epilepsies.

scientific article published in October 2006

Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci

article

Exposure to antiepileptic drugs in pregnancy: The need for a family factor framework

scientific article published on 17 July 2018

False-negative pregnancy test women taking carbamazepine

scientific article published on 01 August 1982

Familial endometrial cancer in female carriers of MSH6 germline mutations

scientific article (publication date: October 1999)

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

scientific article

Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q

scientific article published on 01 October 2003

Favourable mutation test outcomes for individuals at risk for Huntington disease change the perspectives of first-degree relatives.

scientific article published on 23 July 2002

Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation.

scientific article published on December 2013

Fibroblasts from a leprechaun patient have defects in insulin binding and insulin receptor autophosphorylation

scientific article published on 01 August 1988

Fibrodysplasia ossificans progressiva: current concepts and the role of CT in acute changes

scientific article published on 01 January 1985

Frequently asked questions on epilepsy, pregnancy and lactation: a EURAP-NL report.

scientific article published on 6 July 2012

Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.

scientific article

Genetic heterogeneity of familial hemiplegic migraine

scientific article published on 01 July 1994

Genetics of limb development and congenital hand malformations.

scientific article published on April 1998

Genetics of photosensitivity (photoparoxysmal response): a review

scientific article published on January 2004

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

scientific article

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

article

Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13

article

Genotype-phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia.

scientific article

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

scientific article published on 9 September 2005

H-reflex studies in a family with possibly X-linked neuronal Charcot-Marie-Tooth disease

scientific article published on 01 January 1982

Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

scientific article published on 23 October 2004

Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families

scientific article published in October 2006

Hippocampal Nabeta3 expression in patients with temporal lobe epilepsy

scientific article published on 26 January 2009

Hyperactive behavior in a family with autosomal dominant lateral temporal lobe epilepsy caused by a mutation in the LGI1/epitempin gene.

scientific article published on 5 May 2013

ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies

article

ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies

article

Identification of Srp9 as a febrile seizure susceptibility gene

scientific article published on 12 March 2014

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

scientific article (publication date: 8 August 1997)

In-utero exposure to valproate and neural tube defects.

scientific article published on June 1986

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus

scientific article

Inheritance of cranio-fronto-nasal syndrome

scientific article published on 01 July 1988

Is hearing loss a feature of Joubert syndrome, a ciliopathy?

scientific article

Lamotrigine kinetics within the menstrual cycle, after menopause, and with oral contraceptives.

scientific article published in October 2009

Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.

scientific article published in January 2005

Levetiracetam use and pregnancy outcome

scientific article

Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.

scientific article published in February 2005

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

scientific article

Low levels of prenatal alcohol exposure can cause fetal damage

scientific article published on 01 June 2007

MSH2 genomic deletions are a frequent cause of HNPCC

article

Male patients affected by mosaic PCDH19 mutations: five new cases.

scientific article

Management of prenatally detected trisomy 8 mosaicism

scientific article published on 01 December 2001

Maternal epilepsy and behavioral development of the child: Family factors do matter

scientific article published on 08 April 2019

Maternal use of antiepileptic drugs and the risk of major congenital malformations: a joint European prospective study of human teratogenesis associated with maternal epilepsy

scientific article published on 01 September 1997

Molecular characterization of WFS1 in patients with Wolfram syndrome

scientific article published in May 2003

Monozygous twin brothers discordant for photosensitive epilepsy: first report of possible visual priming in humans

scientific article published on 01 September 2005

Mutations in WNT10A are present in more than half of isolated hypodontia cases.

scientific article

Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia ⬇️

scientific article published on February 25, 1992

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

scientific article

Neurocognition after prenatal levetiracetam, lamotrigine, carbamazepine or valproate exposure

scientific article published on 28 February 2020

No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1.

scientific article published in August 2002

No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures.

scientific article published in September 2002

Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy

scientific article published on 26 June 2009

Oligogenic inheritance in photosensitive juvenile myoclonic epilepsy?

scientific article published on 01 March 2006

Peutz-Jeghers syndrome: 78-year follow-up of the original family

scientific article

Phenotypic analysis of triphalangeal thumb and associated hand malformations

scientific article

Possible role of the innate immunity in temporal lobe epilepsy.

scientific article published on 11 December 2007

Pregnancy registries: differences, similarities, and possible harmonization

scientific article published on 26 February 2010

Premature centromere division (PCD): a dominantly inherited cytogenetic anomaly

scientific article published on 01 October 1987

Prenatal analysis of insulin receptor autophosphorylation in a family with leprechaunism

scientific article published on 01 January 1990

Prenatal diagnosis of spina bifida aperta after first‐trimester valproate exposure ⬇️

scientific article (publication date: November 1992)

Psychomotor development in children with triphalangeal thumbs. A preliminary study.

scientific article published in August 1998

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

scientific article

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

scientific article

Ring chromosome 20 epilepsy syndrome in children: electroclinical features.

scientific article published in September 2001

Seizure control and treatment changes in pregnancy: observations from the EURAP epilepsy pregnancy registry

scientific article

Somatic mosaicism and clinical variation in tuberous sclerosis complex

scientific article published on 01 January 1995

Somatic mosaicism as a basic epileptogenic mechanism?

scientific article published on 13 March 2008

Spina bifida and in-utero exposure to valproate ⬇️

scientific article published on August 18, 1984

Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

scientific article published in March 2002

Structural genomic variation in childhood epilepsies with complex phenotypes

scientific article

Teratogenicity of antiepileptic drug combinations with special emphasis on epoxidation (of carbamazepine)

scientific article published on 01 February 1984

The Joubert syndrome associated with bilateral chorioretinal coloboma.

scientific article published in August 1980

The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts

scientific article

The Pena-Shokeir syndrome: report of nine Dutch cases

scientific article published on 01 August 1985

The disposition of valproate and its metabolites in the late first trimester and early second trimester of pregnancy in maternal serum, urine, and amniotic fluid: effect of dose, co-medication, and the presence of spina bifida

scientific article published on 01 January 1992

The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q.

scientific article published in March 1994

The heterogeneity of the Pena-Shokeir syndrome

scientific article published on 01 February 1987

The impact of age on lamotrigine and oxcarbazepine kinetics: a historical cohort study

scientific article published on 29 August 2013

The role of ultrasound in the early diagnosis of fetal structural defects following maternal anticonvulsant therapy.

scientific article published in January 1988

Univerricht-Lundborg disease: underdiagnosed in the Netherlands

scientific article published on 01 September 2004

Ventricular septal defect with overriding aorta in trisomy-18

scientific article published on 01 June 1988

Waardenburg syndrome and neural tube defects

scientific article published on 01 May 1994

Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis

scientific article

[Radiologische Besonderheiten einer bilateral vererblichen Mikro-Epiphysendysplasie - deutliche Entität einer Skelettdysplasie]

scientific article published on 01 July 2002

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