Lista de obras - Sébastien Moutton - Dominio Público Uruguay

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.

artículo científico publicado en 2017

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

artículo científico publicado en 2015

A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies

artículo científico publicado en 2014

A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy

scientific article published on 11 August 2019

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures

scientific article published on 26 April 2019

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

artículo científico publicado en 2012

Fetal phenotypes in otopalatodigital spectrum disorders

artículo científico publicado en 2015

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

artículo científico publicado en 2015

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents

artículo científico publicado en 2015

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

artículo científico publicado en 2013

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

scientific article published on 22 August 2018

Mutation in TTI2 reveals a role for triple T complex in human brain development

artículo científico publicado en 2013

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

artículo científico publicado en 2015

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

artículo científico publicado en 2016

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

artículo científico publicado en 2015

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

artículo científico publicado en 2016

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features

artículo científico publicado en 2018

Typical facial gestalt in X-linked Kabuki syndrome.

artículo científico publicado en 2016

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

artículo científico publicado en 2021

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

scientific article published on 30 April 2019

Étude d’une grande cohorte de patients atteints d’albinisme oculocutané

artículo científico publicado en 2015

Lista de obras de Sébastien Moutton

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies

A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

Fetal phenotypes in otopalatodigital spectrum disorders

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

Mutation in TTI2 reveals a role for triple T complex in human brain development

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features

Typical facial gestalt in X-linked Kabuki syndrome.

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

Étude d’une grande cohorte de patients atteints d’albinisme oculocutané