Lista de obras -

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations ⬇️

artículo científico publicado en 2011

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation

article

CEREBRAL PERFUSION AS AN IMAGING BIOMARKER OF PRESYMPTOMATIC GENETIC FRONTOTEMPORAL DEMENTIA: PRELIMINARY RESULTS FROM THE GENETIC FRONTOTEMPORAL DEMENTIA INITIATIVE (GENFI)

Cerebral blood flow in presymptomatic MAPT and GRN mutation carriers: A longitudinal arterial spin labeling study.

artículo científico

Cognition and gray and white matter characteristics of presymptomatic C9orf72 repeat expansion

artículo científico

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

artículo científico publicado en 2015

Complete FXN deletion in a patient with Friedreich's ataxia

artículo científico publicado en 2012

Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry

artículo científico publicado en 2017

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

article

Deciphering the natural history of SCA7 in children

scientific article published on 17 June 2020

Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

artículo científico publicado en 2020

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

artículo científico publicado en 2018

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.

artículo científico publicado en 2016

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics

scientific article published on 25 March 2019

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

artículo científico publicado en 2017

Gray and white matter changes in presymptomatic genetic frontotemporal dementia: a longitudinal MRI study

scientific article published on 07 January 2019

Haplotypes of IL1B, IL1RN, IL1R1, and IL1R2 and the risk of venous thrombosis

artículo científico publicado en 2007

Haplotypes of the interleukin-1 receptor antagonist gene, interleukin-1 receptor antagonist mRNA levels and the risk of myocardial infarction

artículo científico publicado en 2008

Legius syndrome in fourteen families.

artículo científico publicado en 2011

Longitudinal cognitive biomarkers predicting symptom onset in presymptomatic frontotemporal dementia.

artículo científico publicado en 2018

Longitudinal multimodal MRI as prognostic and diagnostic biomarker in presymptomatic familial frontotemporal dementia

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review

artículo científico publicado en 2015

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

artículo científico publicado en 2016

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

scientific article published on July 2016

PRRT2-related phenotypes in patients with a 16p11.2 deletion

artículo científico publicado en 2018

PTRHD1 Loss-of-function mutation in an african family with juvenile-onset Parkinsonism and intellectual disability

artículo científico publicado en 2018

Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome

artículo científico publicado en 2012

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers.

artículo científico publicado en 2018

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.

artículo científico publicado en 2015

Presymptomatic cognitive decline in familial frontotemporal dementia: A longitudinal study.

artículo científico publicado en 2016

Presymptomatic white matter integrity loss in familial frontotemporal dementia in the GENFI cohort: A cross-sectional diffusion tensor imaging study

artículo científico publicado en 2018

Progranulin Levels in Plasma and Cerebrospinal Fluid in Granulin Mutation Carriers.

artículo científico publicado en 2016

Review and update of SPRED1 mutations causing Legius syndrome

artículo científico

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.

artículo científico publicado en 2014

Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation

artículo científico publicado en 2011

The Marburg I polymorphism of factor VII-activating protease is not associated with venous thrombosis

artículo científico publicado en 2005

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

artículo científico publicado en 2014

Three VCP Mutations in Patients with Frontotemporal Dementia

artículo científico publicado en 2018

Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells

artículo científico publicado en 2016

Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients

scientific article published on 30 July 2020

Lista de obras de

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations ⬇️

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation

CEREBRAL PERFUSION AS AN IMAGING BIOMARKER OF PRESYMPTOMATIC GENETIC FRONTOTEMPORAL DEMENTIA: PRELIMINARY RESULTS FROM THE GENETIC FRONTOTEMPORAL DEMENTIA INITIATIVE (GENFI)

Cerebral blood flow in presymptomatic MAPT and GRN mutation carriers: A longitudinal arterial spin labeling study.

Cognition and gray and white matter characteristics of presymptomatic C9orf72 repeat expansion

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

Complete FXN deletion in a patient with Friedreich's ataxia

Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

Deciphering the natural history of SCA7 in children

Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Gray and white matter changes in presymptomatic genetic frontotemporal dementia: a longitudinal MRI study

Haplotypes of IL1B, IL1RN, IL1R1, and IL1R2 and the risk of venous thrombosis

Haplotypes of the interleukin-1 receptor antagonist gene, interleukin-1 receptor antagonist mRNA levels and the risk of myocardial infarction

Legius syndrome in fourteen families.

Longitudinal cognitive biomarkers predicting symptom onset in presymptomatic frontotemporal dementia.

Longitudinal multimodal MRI as prognostic and diagnostic biomarker in presymptomatic familial frontotemporal dementia

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

PRRT2-related phenotypes in patients with a 16p11.2 deletion

PTRHD1 Loss-of-function mutation in an african family with juvenile-onset Parkinsonism and intellectual disability

Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers.

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.

Presymptomatic cognitive decline in familial frontotemporal dementia: A longitudinal study.

Presymptomatic white matter integrity loss in familial frontotemporal dementia in the GENFI cohort: A cross-sectional diffusion tensor imaging study

Progranulin Levels in Plasma and Cerebrospinal Fluid in Granulin Mutation Carriers.

Review and update of SPRED1 mutations causing Legius syndrome

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.

Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation

The Marburg I polymorphism of factor VII-activating protease is not associated with venous thrombosis

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

Three VCP Mutations in Patients with Frontotemporal Dementia

Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells

Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients