List of works by Anna C Jansen

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

scientific article published on 29 July 2019

A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report

scientific article published on 30 April 2019

Abnormal development of the human cerebral cortex.

scientific article published on October 2010

Attending school after treatment for a brain tumor: Experiences of children and key figures.

scientific article

Best use of the tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) checklist

scientific article published on 31 October 2018

Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

scientific article

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

scientific article published on 05 June 2018

Biparental inheritance in idiopathic generalized epilepsy

scientific article published on 01 October 2004

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

Careful clinical observation continues to improve understanding of the phenotype in individuals with tuberous sclerosis complex

scientific article published on 9 July 2014

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

scientific article published on 5 January 2018

Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

scientific article published on 03 July 2019

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

scientific article

Clinical implementation of gene panel testing for lysosomal storage diseases.

scientific article published on 11 December 2018

Cognitive deficits and developmental language disorders in patients with malformations of cortical development

scientific article published in February 2010

Cognitive functioning in bilateral perisylvian polymicrogyria (BPP): clinical and radiological correlations.

scientific article published in May 2005

Convert your favorite protein modeling program into a mutation predictor: "MODICT"

scientific article

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation

scientific article published on 19 July 2014

Defining the phenotypical spectrum associated with variants in TUBB2A

scientific article published on 22 June 2020

Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study

scientific article published on 03 June 2019

Early treatment of a child with NAGS deficiency using N-carbamyl glutamate results in a normal neurological outcome

scientific article

Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.

scientific article

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

scientific article published in February 2007

Expanding the clinical spectrum of biallelic ZNF335 variants.

scientific article published on 13 April 2018

Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis

scientific article published in August 2005

Fetal and neonatal neurogenetics

scientific article published on 01 January 2019

First line management of prolonged convulsive seizures in children and adults: good practice points.

scientific article published on 10 September 2013

Genetic disorders and neurobehavioural phenotypes

scientific article

Genetics of the polymicrogyria syndromes.

scientific article

Hearing thresholds in children with a congenital CMV infection: a prospective study.

scientific article published on 2 March 2012

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

scientific article published on 01 April 2019

I-PV: a CIRCOS module for interactive protein sequence visualization.

scientific article

Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

scientific article published on 07 August 2017

Infants dying suddenly and unexpectedly share demographic features with infants who die with retinal and dural bleeding: a review of neural mechanisms.

scientific article

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

scientific article

Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy

scientific article published on 7 February 2008

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

scientific article published on 05 September 2019

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

scientific article published on 19 July 2016

Magnetic resonance measurement of muscle T2, fat-corrected T2 and fat fraction in the assessment of idiopathic inflammatory myopathies.

scientific article published on 27 September 2015

MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis

scientific article published on 14 June 2021

Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis

scientific article published on 31 October 2018

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

scientific article published on May 2013

Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study

scientific article published on 02 August 2019

Novel assessment tools to evaluate clinical and laboratory responses in a subset of patients enrolled in the Rituximab in Myositis trial

scientific article

PRRT2 mutations: exploring the phenotypical boundaries.

scientific article published on 7 October 2013

Pilot validation of the tuberous sclerosis-associated neuropsychiatric disorders (TAND) checklist

scientific article

Polymicrogyria with dysmorphic basal ganglia? Think tubulin!

scientific article published on 24 April 2013

Polymicrogyria: pathology, fetal origins and mechanisms.

scientific article

Primary maternal cytomegalovirus infections: accuracy of fetal ultrasound for predicting sequelae in offspring.

scientific article published on 8 June 2016

Recommendations for the treatment of epilepsy in adult and pediatric patients in Belgium: 2020 update

scientific article published on 13 October 2020

Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers

scientific article published on 14 February 2013

Reintegration Into School After Treatment for a Brain Tumor: The Child's Perspective

scientific article published on 02 July 2019

Reintegration into school of childhood brain tumor survivors: a qualitative study using the International Classification of Functioning, Disability and Health - Children and Youth framework

scientific article published on 07 January 2020

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.

scientific article published on 25 April 2018

Renal progression factors in young patients with tuberous sclerosis complex: a retrospective cohort study

scientific article published on 09 July 2018

SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation

scientific article published on 08 June 2020

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

scientific article published on 3 June 2015

Short-term perspectives of parents and teachers on school reintegration of childhood brain tumour survivors

scientific article published on 17 July 2018

Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience

Speech and language in bilateral perisylvian polymicrogyria: a systematic review

scientific article published on 25 January 2019

Steroids in intractable childhood epilepsy: clinical experience and review of the literature.

scientific article

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

scientific article published on 14 November 2019

TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex.

scientific article

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

scientific article published on 10 September 2018

The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions.

scientific article published on 29 February 2016

The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases

scientific article published on 13 November 2019

The histopathology of polymicrogyria: a series of 71 brain autopsy studies

scientific article published on 14 July 2015

The landscape of epilepsy-related GATOR1 variants

scientific article published on 10 August 2018

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

Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry

scientific article published on 25 October 2019

TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients

scientific article

Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist

scientific article published on 16 October 2014

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

scientific article published on 30 April 2018

Unusually mild tuberous sclerosis phenotype is associated withTSC2R905Q mutation

scientific article published on 01 November 2006

mTOR-related neuropathology in mutant tsc2 zebrafish: Phenotypic, transcriptomic and pharmacological analysis

scientific article published on 6 September 2017

Paulina is supported by:

About Paulina

Help