List of works - Laurence Colleaux

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

scientific article published on 8 July 2015

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

scientific article published in May 2001

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

scientific article published on 17 December 2011

A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency

scientific article published on 3 October 2013

A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances

scientific article published in March 2004

A rapid microarray based whole genome analysis for detection of uniparental disomy

scientific article published on 01 August 2005

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

scientific article published on 21 October 2013

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

scientific article

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

scientific article

An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript

scientific article published on 01 May 1998

Approche diagnostique du sujet présentant un retard mental sévère et syndromique

scientific article published on 01 June 2004

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

scientific article published on 13 July 2006

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

scientific article

Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation

scientific article

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.

scientific article

Biochemical, genetic and molecular characterization of new respiratory-deficient mutants in Chlamydomonas reinhardtii

scientific article published on 01 February 1992

Clinical and molecular overlap in overgrowth syndromes

scientific article published in August 2005

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

scientific article published in July 2008

Cloning of Z39Ig, a novel gene with immunoglobulin-like domains located on human chromosome X.

scientific article published in July 2000

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation

scientific article published on December 2009

Complete DNA sequence of yeast chromosome XI.

scientific article published in June 1994

Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family

scientific article published on 28 March 2009

Construction of a YAC contig spanning the Xq13.3 subband.

scientific article

Contiguous mutation syndrome in the era of high-throughput sequencing

scientific article published on 18 March 2015

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

scientific article published in April 2003

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

scientific article

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

scientific article

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

scientific article

Determination of the Genomic Structure of the XNP/ATRX Gene Encoding a Potential Zinc Finger Helicase ⬇️

scientific article (publication date: 15 July 1997)

Developmental changes of the 26 S proteasome in abdominal intersegmental muscles of Manduca sexta during programmed cell death.

scientific article published on January 1995

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

scientific article published on March 2016

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

scientific article

Dérégulation de l’expression des gènes à réponse précoce et déficience intellectuelle

article

Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families

article

Expression and mapping of the mouse S7/Pmsc2 gene, homolog of an essential mitotic gene in yeast.

scientific article published in May 1997

Extracellular proteases and their inhibitors in genetic diseases of the central nervous system

scientific article

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

scientific article

Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene

scientific article published on August 2006

Fluorescence genotyping for screening cryptic telomeric rearrangements

Generation and characterization of an ordered lambda clone array for the 460-kb region surrounding the murine Xist sequence

scientific article published on 01 July 1994

Genetic Basis of Mental Retardation

Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.

scientific article published in August 2004

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

scientific article

Human slack potassium channel mutations increase positive cooperativity between individual channels

scientific article

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

scientific article

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations

scientific article published on February 2007

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

scientific article published in June 2006

La CGH microarray : principe et applications en pathologie constitutionnelle

article

Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands.

scientific article published on May 1996

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

scientific article published on 24 April 2013

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

scientific article published on 11 February 2019

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

scientific article published on 25 June 2009

MED23 mutation links intellectual disability to dysregulation of immediate early gene expression

scientific article published in August 2011

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

scientific article

Mitochondrial introns as mobile genetic elements: the role of intron-encoded proteins.

scientific article

Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM.

scientific article

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.

scientific article published on 29 July 2009

Molecular karyotyping in human constitutional cytogenetics

scientific article

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion

scientific article published on 24 March 2014

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

scientific article published on 10 September 2013

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

scientific article (publication date: April 2009)

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

scientific article

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

scientific article published in June 2016

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

scientific article

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

scientific article published on 30 March 2016

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

scientific article

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

scientific article published on 18 July 2012

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.

scientific article

Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

scientific article

Neurotrypsin mutations and mental retardation

scientific article published in May 2003

New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation

scientific article published in January 2008

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

scientific article

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome

scientific article

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

article

Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders

scientific article published in December 2008

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

scientific article

Rapid physical mapping of YAC inserts by random integration of I-Sce I sites.

scientific article published on March 1993

Recognition and cleavage site of the intron-encoded omega transposase.

scientific article

Refining the phenotype associated with CASC5 mutation

scientific article published on December 2015

Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders.

scientific article published on 19 June 2018

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

scientific article

Sequence of a segment of yeast chromosome XI identifies a new mitochondrial carrier, a new member of the G protein family, and a protein with the PAAKK motif of the H1 histones

scientific article published on April 1, 1992

Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein

scientific article

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

scientific article

Tequila, a neurotrypsin ortholog, regulates long-term memory formation in Drosophila

scientific article

The apocytochrome b gene of Chlamydomonas smithii contains a mobile intron related to both Saccharomyces and Neurospora introns ⬇️

scientific article published on September 1, 1990

The emerging roles of MicroRNAs in autism spectrum disorders

scientific article published on 25 October 2016

The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders.

scientific article

The sequence of a 9.3 kb segment located on the left arm of the yeast chromosome XI reveals five open reading frames including the CCE1 gene and putative products related to MYO2 and to the ribosomal protein L10

scientific article published on November 1, 1992

Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?

scientific article published in February 2005

Transcript map of the human chromosome Xq11-Xq21 region: localization of 33 novel genes and one pseudogene.

scientific article published in July 1999

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

scientific article

Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1.

scientific article

Use of interspersed repetitive sequences-PCR products for cDNA selection

scientific article published on 01 September 1995

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

scientific article published on 4 May 2016

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

scientific article published on 26 February 2018

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.

scientific article published on 11 February 2015

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.

scientific article

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation

scientific article

List of works by Laurence Colleaux

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

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency

A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances

A rapid microarray based whole genome analysis for detection of uniparental disomy

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript

Approche diagnostique du sujet présentant un retard mental sévère et syndromique

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.

Biochemical, genetic and molecular characterization of new respiratory-deficient mutants in Chlamydomonas reinhardtii

Clinical and molecular overlap in overgrowth syndromes

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

Cloning of Z39Ig, a novel gene with immunoglobulin-like domains located on human chromosome X.

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation

Complete DNA sequence of yeast chromosome XI.

Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family

Construction of a YAC contig spanning the Xq13.3 subband.

Contiguous mutation syndrome in the era of high-throughput sequencing

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

Determination of the Genomic Structure of the XNP/ATRX Gene Encoding a Potential Zinc Finger Helicase ⬇️

Developmental changes of the 26 S proteasome in abdominal intersegmental muscles of Manduca sexta during programmed cell death.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

Dérégulation de l’expression des gènes à réponse précoce et déficience intellectuelle

Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families

Expression and mapping of the mouse S7/Pmsc2 gene, homolog of an essential mitotic gene in yeast.

Extracellular proteases and their inhibitors in genetic diseases of the central nervous system

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene

Fluorescence genotyping for screening cryptic telomeric rearrangements

Generation and characterization of an ordered lambda clone array for the 460-kb region surrounding the murine Xist sequence

Genetic Basis of Mental Retardation

Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Human slack potassium channel mutations increase positive cooperativity between individual channels

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

La CGH microarray : principe et applications en pathologie constitutionnelle

Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands.

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

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

MED23 mutation links intellectual disability to dysregulation of immediate early gene expression

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

Mitochondrial introns as mobile genetic elements: the role of intron-encoded proteins.

Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM.

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.

Molecular karyotyping in human constitutional cytogenetics

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion

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

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

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

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

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.

Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

Neurotrypsin mutations and mental retardation

New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

Rapid physical mapping of YAC inserts by random integration of I-Sce I sites.

Recognition and cleavage site of the intron-encoded omega transposase.

Refining the phenotype associated with CASC5 mutation