Lista de obras - Anne-Sophie Denommé-Pichon

A novel mutation in the TM6 domain of GABBR2 leads to a Rett-like phenotype.

artículo científico publicado en 2018

An ex vivo evaluation of blood coagulation and thromboresistance of two extracorporeal circuit coatings with reduced and full heparin dose.

artículo científico publicado en 2014

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

scientific journal article

Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO

artículo científico publicado en 2020

CutePeaks: A modern viewer for Sanger trace file

artículo científico publicado en 2021

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

artículo científico publicado en 2017

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article published on 01 April 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

artículo científico publicado en 2017

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

artículo científico publicado en 2016

Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

artículo científico publicado en 2022

Ex vivo simulation of cardiopulmonary bypass with human blood for hemocompatibility testing.

artículo científico publicado en 2015

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

artículo científico publicado en 2017

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

artículo científico publicado en 2022

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

article

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

artículo científico publicado en 2020

Next-Generation Sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

scientific article published on 26 April 2020

Patients with dual MPO- and PR3-ANCA do not present primary systemic necrotizing vasculitis

artículo científico publicado en 2015

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

scientific article published on 18 February 2020

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

artículo científico publicado en 2023

Lista de obras de Anne-Sophie Denommé-Pichon

A novel mutation in the TM6 domain of GABBR2 leads to a Rett-like phenotype.

An ex vivo evaluation of blood coagulation and thromboresistance of two extracorporeal circuit coatings with reduced and full heparin dose.

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO

CutePeaks: A modern viewer for Sanger trace file

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

Ex vivo simulation of cardiopulmonary bypass with human blood for hemocompatibility testing.

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Next-Generation Sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

Patients with dual MPO- and PR3-ANCA do not present primary systemic necrotizing vasculitis

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant