Lista de obras - Anke Van Dijck - Dominio Público Uruguay

A mouse model for intellectual disability caused by mutations in the X-linked 2′‑O‑methyltransferase Ftsj1 gene

article

A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome.

artículo científico publicado en 2017

ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case

artículo científico publicado en 2024

ADNP-Related Intellectual Disability and Autism Spectrum Disorder

artículo científico publicado en 1993

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

scientific article published on 22 August 2019

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

artículo científico publicado en 2020

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

scientific article published on 24 January 2019

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

scientific article published on 29 July 2019

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

scientific article published on 26 August 2019

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities

artículo científico publicado en 2015

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

artículo científico publicado en 2016

Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children

artículo científico publicado en 2017

Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children

artículo científico publicado en 2017

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

artículo científico publicado en 2018

Tauopathy in the young autistic brain: novel biomarker and therapeutic target

artículo científico publicado en 2020

The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings

artículo científico publicado en 2017

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

artículo científico publicado en 2014

The translational regulator FMRP controls lipid and glucose metabolism in mice and humans

scientific article published on 14 January 2019

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

artículo científico publicado en 2018

Lista de obras de Anke Van Dijck

A mouse model for intellectual disability caused by mutations in the X-linked 2′‑O‑methyltransferase Ftsj1 gene

A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome.

ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case

ADNP-Related Intellectual Disability and Autism Spectrum Disorder

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children

Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Tauopathy in the young autistic brain: novel biomarker and therapeutic target

The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

The translational regulator FMRP controls lipid and glucose metabolism in mice and humans

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.