Lista de obras - Andrée Delahaye - Dominio Público Uruguay

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

artículo científico publicado en 2008

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

artículo científico publicado en 2015

A systems-level framework for drug discovery identifies Csf1R as an anti-epileptic drug target

artículo científico publicado en 2018

Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications.

artículo científico publicado en 2014

Chromosomal microarray analysis in ocular developmental anomalies.

artículo científico publicado en 2012

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.

artículo científico publicado en 2009

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

artículo científico publicado en 2016

De novo subtelomeric deletion additional to an inherited apparently balanced reciprocal translocation

artículo científico

First cryptic balanced reciprocal translocation mosaicism and familial transmission

artículo científico publicado en 2008

Genome-wide analysis of differential RNA editing in epilepsy.

artículo científico publicado en 2017

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies

artículo científico publicado en 2012

HOXC4 homeoprotein efficiently expands human hematopoietic stem cells and triggers similar molecular alterations as HOXB4

artículo científico publicado en 2012

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

artículo científico publicado en 2017

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series

artículo científico publicado en 2009

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

artículo científico publicado en 2014

Integrated systems-genetic analyses reveal a network target for delaying glioma progression

scientific article published on 17 August 2019

Loss of the Wnt/β-catenin pathway in microglia of the developing brain drives pro-inflammatory activation leading to white matter injury

article published in 2018

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.

artículo científico publicado en 2010

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder

artículo científico publicado en 2018

New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability

artículo científico publicado en 2020

Pre- and postnatal phenotype of 6p25 deletions involving theFOXC1gene

article

Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery.

artículo científico publicado en 2016

Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.

artículo científico publicado en 2012

Reply to Pubpeer anonymous contributors: incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

artículo científico publicado en 2022

Retrospective diagnosis of Pallister-Killian syndrome by CGH array

scientific article published on 12 September 2006

Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease

artículo científico publicado en 2015

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.

artículo científico publicado en 2003

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.

artículo científico publicado en 2014

[Identification of therapeutic targets and drug repurposing via gene network analysis]

scientific article published on 01 June 2019

Lista de obras de Andrée Delahaye

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

A systems-level framework for drug discovery identifies Csf1R as an anti-epileptic drug target

Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications.

Chromosomal microarray analysis in ocular developmental anomalies.

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

De novo subtelomeric deletion additional to an inherited apparently balanced reciprocal translocation

First cryptic balanced reciprocal translocation mosaicism and familial transmission

Genome-wide analysis of differential RNA editing in epilepsy.

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies

HOXC4 homeoprotein efficiently expands human hematopoietic stem cells and triggers similar molecular alterations as HOXB4

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Integrated systems-genetic analyses reveal a network target for delaying glioma progression

Loss of the Wnt/β-catenin pathway in microglia of the developing brain drives pro-inflammatory activation leading to white matter injury

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder

New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability

Pre- and postnatal phenotype of 6p25 deletions involving theFOXC1gene

Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery.

Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.

Reply to Pubpeer anonymous contributors: incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

Retrospective diagnosis of Pallister-Killian syndrome by CGH array

Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.

[Identification of therapeutic targets and drug repurposing via gene network analysis]