Lista de obras -

<i>USP27X</i>variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

artículo científico publicado en 2024

Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome

scientific article published on 19 October 2017

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

artículo científico publicado en 2018

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2017

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2018

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

scientific journal article

De Novo Variants in KLF7 are a Potential Novel Cause of Developmental Delay/Intellectual Disability, Neuromuscular and Psychiatric Symptoms

artículo científico publicado en 2017

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

scientific article published on 03 January 2019

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

scientific article published on 24 January 2019

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

artículo científico publicado en 2017

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

scientific article published on 07 December 2018

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

artículo científico publicado en 2019

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

scientific article published on 25 September 2019

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

artículo científico publicado en 2017

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

artículo científico publicado en 2022

Germline AGO2 mutations impair RNA interference and human neurological development

artículo científico publicado en 2020

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development

artículo científico publicado en 2018

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability

artículo científico publicado en 2017

Inhibition of T Cell and Promotion of Natural Killer Cell Development by the Dominant Negative Helix Loop Helix Factor Id3 ⬇️

artículo científico publicado el 3 de noviembre de 1997

Interleukin 2 mediates stimulation of complement C3 biosynthesis in human proximal tubular epithelial cells ⬇️

artículo científico publicado el 1 de agosto de 1991

Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis

scientific article published on 15 August 2018

MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions ⬇️

artículo científico publicado el 11 de octubre de 2011

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

artículo científico publicado en 2016

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

artículo científico publicado en 2017

Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature

artículo científico publicado en 2019

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

article

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

artículo científico publicado en 2018

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

artículo científico publicado en 2017

Role of deoxycytidine kinase in an in vitro model for AraC- and DAC-resistance: substrate-enzyme interactions with deoxycytidine, 1-beta-D-arabinofuranosylcytosine and 5-aza-2'-deoxycytidine

artículo científico publicado el 1 de julio de 1993

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

scientific article published in Nature Communications

The 6p25 deletion syndrome: An update on a rare neurocristopathy.

artículo científico publicado en 2016

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

scientific article published on 13 December 2016

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

artículo científico publicado en 2017

Lista de obras de

<i>USP27X</i>variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

De Novo Variants in KLF7 are a Potential Novel Cause of Developmental Delay/Intellectual Disability, Neuromuscular and Psychiatric Symptoms

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

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

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Germline AGO2 mutations impair RNA interference and human neurological development

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability

Inhibition of T Cell and Promotion of Natural Killer Cell Development by the Dominant Negative Helix Loop Helix Factor Id3 ⬇️

Interleukin 2 mediates stimulation of complement C3 biosynthesis in human proximal tubular epithelial cells ⬇️

Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis

MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions ⬇️

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

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

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Role of deoxycytidine kinase in an in vitro model for AraC- and DAC-resistance: substrate-enzyme interactions with deoxycytidine, 1-beta-D-arabinofuranosylcytosine and 5-aza-2'-deoxycytidine

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

The 6p25 deletion syndrome: An update on a rare neurocristopathy.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability