Lista de obras - Anna C Jansen - Dominio Público Uruguay

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

artículo científico publicado en 2019

Abnormal development of the human cerebral cortex.

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2004

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

artículo científico publicado en 2019

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

artículo científico publicado en 2010

Clinical implementation of gene panel testing for lysosomal storage diseases.

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico

Defining the phenotypical spectrum associated with variants in TUBB2A

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

Expanding the clinical spectrum of biallelic ZNF335 variants.

artículo científico publicado en 2018

Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis

artículo científico publicado en 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.

artículo científico

Genetic disorders and neurobehavioural phenotypes

artículo científico publicado en 2017

Genetics of the polymicrogyria syndromes.

artículo científico publicado en 2005

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico

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

artículo científico publicado en 2016

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

artículo científico publicado en 2012

Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

PRRT2 mutations: exploring the phenotypical boundaries.

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Polymicrogyria with dysmorphic basal ganglia? Think tubulin!

artículo científico publicado en 2013

Polymicrogyria: pathology, fetal origins and mechanisms.

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2020

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

artículo científico publicado en 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.

artículo científico publicado en 2005

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.

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

The landscape of epilepsy-related GATOR1 variants

artículo científico publicado en 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.

artículo científico

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2017

Lista de obras de Anna C Jansen

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

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

Abnormal development of the human cerebral cortex.

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

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

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

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

Biparental inheritance in idiopathic generalized epilepsy

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

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

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

Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

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

Clinical implementation of gene panel testing for lysosomal storage diseases.

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

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

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

Correction to: The landscape of epilepsy-related GATOR1 variants

Correction: The landscape of epilepsy-related GATOR1 variants

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

Defining the phenotypical spectrum associated with variants in TUBB2A

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

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

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

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

Expanding the clinical spectrum of biallelic ZNF335 variants.

Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis

Fetal and neonatal neurogenetics

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

Genetic disorders and neurobehavioural phenotypes

Genetics of the polymicrogyria syndromes.

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

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

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

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

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

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy

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

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

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

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

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

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

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

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

PRRT2 mutations: exploring the phenotypical boundaries.

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

Polymicrogyria with dysmorphic basal ganglia? Think tubulin!

Polymicrogyria: pathology, fetal origins and mechanisms.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

The landscape of epilepsy-related GATOR1 variants

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.

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

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

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

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

Unusually mild tuberous sclerosis phenotype is associated withTSC2R905Q mutation

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