List of works - Sandrine Passemard

A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder

scientific article published on 29 September 2014

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features

scientific article published on 19 January 2013

A familial syndromal form of omphalocele

scientific article published on 17 February 2011

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

scientific article

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

article

A new lysosomal storage disorder resembling Morquio syndrome in sibs

scientific article published on 25 January 2012

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

scientific article published on 27 July 2016

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

scientific article published on 31 October 2015

Angelman syndrome and isovaleric acidemia: What is the link?

scientific article

Aphallia, lung agenesis and multiple defects of blastogenesis

scientific article published in January 2011

Autosomal recessive primary microcephalies (MCPH)

article published in 2009

Autosomal recessive primary microcephaly due to ASPM mutations: An update

scientific article

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

scientific article published on 03 February 2020

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

scientific article

Correction to: ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly

scholarly article by Vincent El Ghouzzi et al published 20 November 2018 in Cell Death and Disease

Craniosynostosis: A rare complication of pycnodysostosis

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways

scientific article published on 07 November 2019

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans

scientific article published on 4 February 2015

Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome

scientific article published in January 2010

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients

scientific article

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

scientific article published on 10 March 2017

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

scientific article published on 11 January 2012

Golgi trafficking defects in postnatal microcephaly: The evidence for "Golgipathies".

scientific article

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

scientific article published on April 2012

How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?

scientific article published on 20 July 2012

Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia

scientific article published on 27 February 2014

Many roads lead to primary autosomal recessive microcephaly

scientific article

Microcephaly

scientific article

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

scientific article published in June 2017

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy

scientific article

Neuroprotective effects of dexmedetomidine against glutamate agonist-induced neuronal cell death are related to increased astrocyte brain-derived neurotrophic factor expression

scientific article

STIL balancing primary microcephaly and cancer

scientific article

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

scientific article

VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling

scientific journal article

VIP-induced neuroprotection of the developing brain

scientific article published on January 2011

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

scientific article published on October 2017

ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53

scientific article (publication date: 27 October 2016)

ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53.

scientific article published on 19 January 2017

List of works by Sandrine Passemard

A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features

A familial syndromal form of omphalocele

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

A new lysosomal storage disorder resembling Morquio syndrome in sibs

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

Angelman syndrome and isovaleric acidemia: What is the link?

Aphallia, lung agenesis and multiple defects of blastogenesis

Autosomal recessive primary microcephalies (MCPH)

Autosomal recessive primary microcephaly due to ASPM mutations: An update

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

Correction to: ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly

Craniosynostosis: A rare complication of pycnodysostosis

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans

Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

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

Golgi trafficking defects in postnatal microcephaly: The evidence for "Golgipathies".

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?

Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia

Many roads lead to primary autosomal recessive microcephaly

Microcephaly

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy

Neuroprotective effects of dexmedetomidine against glutamate agonist-induced neuronal cell death are related to increased astrocyte brain-derived neurotrophic factor expression

STIL balancing primary microcephaly and cancer

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling

VIP-induced neuroprotection of the developing brain

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53

ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53.