List of works - Fiona Francis

A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.

scientific article

A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human

scientific article

A double-take on MAPs

scientific article published in May 2003

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

scientific article

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

scientific article (publication date: 15 April 2002)

Alternative transcripts of Dclk1 and Dclk2 and their expression in doublecortin knockout mice

scientific article published in January 2008

Analysis of adult neurogenesis: evidence for a prominent "non-neurogenic" DCX-protein pool in rodent brain

scientific article

Analysis of the spermine synthase gene region in Fugu rubripes, Tetraodon fluviatilis, and Danio rerio.

scientific article published in April 1999

Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy

scientific article published in August 1994

BMX, a novel nonreceptor tyrosine kinase gene of the BTK/ITK/TEC/TXK family located in chromosome Xp22.2

scientific article

Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown

scientific article

Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice

scientific article published on 28 March 2006

Cellular anatomy, physiology and epileptiform activity in the CA3 region of Dcx knockout mice: a neuronal lamination defect and its consequences

scientific article published in January 2012

Characterization of the C3 YAC contig from proximal mouse chromosome 17 and analysis of allelic expression of genes flanking the imprinted Igf2r gene

scientific article published in August 1997

Cholinergic influences on cortical development and adult neurogenesis

scientific article published on 25 January 2011

Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.

scientific article

Cloning of the region between HLA-DMB and LMP2 in the human major histocompatibility complex

scientific article published on May 1994

Comparative aspects of cerebral cortical development

scientific article

Cortical progenitor biology: key features mediating proliferation versus differentiation

scientific article published on 23 March 2018

Cre-mediated germline mosaicism: a new transgenic mouse for the selective removal of residual markers from tri-lox conditional alleles

scientific article

Dampened hippocampal oscillations and enhanced spindle activity in an asymptomatic model of developmental cortical malformations

scientific article

Dinucleotide repeat polymorphism at the DXS1683 locus

scientific article published on 01 April 1994

Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway

scientific article

Distinct roles of doublecortin modulating the microtubule cytoskeleton.

scientific article

Doublecortin (DCX) is not Essential for Survival and Differentiation of Newborn Neurons in the Adult Mouse Dentate Gyrus

scientific article

Doublecortin functions at the extremities of growing neuronal processes

scientific article published in June 2003

Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous system

scientific article (publication date: September 2001)

Doublecortin interacts with the ubiquitin protease DFFRX, which associates with microtubules in neuronal processes

scientific article published on 01 January 2005

Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons

scientific article

Doublecortin knockout mice show normal hippocampal-dependent memory despite CA3 lamination defects

scientific article

Doublecortin mutations cluster in evolutionarily conserved functional domains

scientific article (publication date: 22 March 2000)

Doublecortin, a stabilizer of microtubules

scientific article (publication date: September 1999)

Early born neurons are abnormally positioned in the doublecortin knockout hippocampus

scientific article published on 22 December 2016

Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex. ⬇️

scientific article published on 11 December 2017

Epilepsy in Dcx knockout mice associated with discrete lamination defects and enhanced excitability in the hippocampus

scientific article

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

scientific article published on 5 September 2012

Fine structure mapping of the human X-linked hypophosphatemic rickets gene locus

article

Genetics and mechanisms leading to human cortical malformations

scientific article published on 23 September 2017

Genetics and pathophysiology of mental retardation

scientific article

Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1)

scientific article

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets

scientific article published in June 1997

High resolution cosmid and P1 maps spanning the 14 Mb genome of the fission yeast S. pombe.

scientific article published on April 1993

Hippocampal development - old and new findings

scientific article published on 10 June 2013

Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation

scientific article published on 15 March 2022

Human disorders of cortical development: from past to present

scientific article

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

scientific article

Large-scale isolation of human 1p36-specific P1 clones and their use for fluorescence in situ hybridization.

scientific article published on January 1994

Linkage of the NKG2 and CD94 receptor genes to D12S77 in the human natural killer gene complex

article

Long-term modifications of epileptogenesis and hippocampal rhythms after prolonged hyperthermic seizures in the mouse

scientific article

Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency

scientific article published in January 2007

Mapping around the Fused locus on mouse chromosome 17.

scientific article published in July 1995

Mechanism of microtubule stabilization by doublecortin

scientific article published on June 2004

Microtubule architecture in vitro and in cells revealed by cryo-electron tomography

article by Joseph Atherton et al published 1 June 2018 in Acta crystallographica. Section D, Structural biology

Morphological and functional aspects of progenitors perturbed in cortical malformations

scientific article

Mutation of the α-tubulin Tuba1a leads to straighter microtubules and perturbs neuronal migration

scientific article

Mutations du gèneEML1/Eml1, progéniteurs neuronaux et hétérotopies chez l’homme et la souris

article

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human

scientific article

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

scientific article published on 21 April 2013

Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males

scientific article published in May 2005

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons

scientific journal article

Neuronal migration and its disorders affecting the CA3 region

scientific article

Neuronal migration disorders: Focus on the cytoskeleton and epilepsy

scientific article published on 20 August 2015

Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

scientific article published on 18 July 2008

New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum

scientific article published on January 2013

Non-random distribution of mutations in the PHEX gene and under-detected missense mutations at non-conserved residues

article

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

scientific article published on 18 May 2022

Organelle and cellular abnormalities associated with hippocampal heterotopia in neonatal doublecortin knockout mice

scientific article

Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia

scientific article published in February 1997

Positional cloning of the PEX gene: new insights into the pathophysiology of X-linked hypophosphatemic rickets ⬇️

scientific article published on October 1, 1997

Preselection of shotgun clones by oligonucleotide fingerprinting: an efficient and high throughput strategy to reduce redundancy in large-scale sequencing projects.

scientific article

Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1?22.2)

scientific article published on 01 March 1994

Retard mental et troubles de la corticogenèse

scientific article published on 01 May 2000

Sequence analysis of an amphioxus cosmid containing a gene homologous to members of the aldo-keto reductase gene superfamily

scientific article

So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutation

scientific article (publication date: June 2002)

Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene

scientific journal article

Structure of the human CD94 C-type lectin gene

scientific article

Template-free 13-protofilament microtubule–MAP assembly visualized at 8 Å resolution

scientific article

The DNA sequence of human chromosome 21

scientific article (publication date: 18 May 2000)

The DNA sequence of the human X chromosome

scientific article published on 17 March 2005

The Impact of Neuroimmune Alterations in Autism Spectrum Disorder

scientific article

The NKG2 natural killer cell receptor family: comparative analysis of promoter sequences.

scientific article

The gene for X-linked hypophosphataemic rickets maps to a 200-300 kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE)

article

The gene for X-linked hypophosphataemic rickets maps to a 200-300kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE)

scientific article published on 01 March 1996

The genomic organization of NKG2C, E, F, and D receptor genes in the human natural killer gene complex

scientific article

The location of DCX mutations predicts malformation severity in X-linked lissencephaly

scientific article published on 7 August 2008

The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia

scientific article published on 07 June 2019

Tubulin diversity and neuronal migration

scientific article published on 20 February 2018

doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)

scientific article

List of works by Fiona Francis

A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.

A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human

A double-take on MAPs

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

Alternative transcripts of Dclk1 and Dclk2 and their expression in doublecortin knockout mice

Analysis of adult neurogenesis: evidence for a prominent "non-neurogenic" DCX-protein pool in rodent brain

Analysis of the spermine synthase gene region in Fugu rubripes, Tetraodon fluviatilis, and Danio rerio.

Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy

BMX, a novel nonreceptor tyrosine kinase gene of the BTK/ITK/TEC/TXK family located in chromosome Xp22.2

Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown

Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice

Cellular anatomy, physiology and epileptiform activity in the CA3 region of Dcx knockout mice: a neuronal lamination defect and its consequences

Characterization of the C3 YAC contig from proximal mouse chromosome 17 and analysis of allelic expression of genes flanking the imprinted Igf2r gene

Cholinergic influences on cortical development and adult neurogenesis

Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.

Cloning of the region between HLA-DMB and LMP2 in the human major histocompatibility complex

Comparative aspects of cerebral cortical development

Cortical progenitor biology: key features mediating proliferation versus differentiation

Cre-mediated germline mosaicism: a new transgenic mouse for the selective removal of residual markers from tri-lox conditional alleles

Dampened hippocampal oscillations and enhanced spindle activity in an asymptomatic model of developmental cortical malformations

Dinucleotide repeat polymorphism at the DXS1683 locus

Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway

Distinct roles of doublecortin modulating the microtubule cytoskeleton.

Doublecortin (DCX) is not Essential for Survival and Differentiation of Newborn Neurons in the Adult Mouse Dentate Gyrus

Doublecortin functions at the extremities of growing neuronal processes

Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous system

Doublecortin interacts with the ubiquitin protease DFFRX, which associates with microtubules in neuronal processes

Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons

Doublecortin knockout mice show normal hippocampal-dependent memory despite CA3 lamination defects

Doublecortin mutations cluster in evolutionarily conserved functional domains

Doublecortin, a stabilizer of microtubules

Early born neurons are abnormally positioned in the doublecortin knockout hippocampus

Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex. ⬇️

Epilepsy in Dcx knockout mice associated with discrete lamination defects and enhanced excitability in the hippocampus

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

Fine structure mapping of the human X-linked hypophosphatemic rickets gene locus

Genetics and mechanisms leading to human cortical malformations

Genetics and pathophysiology of mental retardation

Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1)

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets

High resolution cosmid and P1 maps spanning the 14 Mb genome of the fission yeast S. pombe.

Hippocampal development - old and new findings

Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation

Human disorders of cortical development: from past to present

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

Large-scale isolation of human 1p36-specific P1 clones and their use for fluorescence in situ hybridization.

Linkage of the NKG2 and CD94 receptor genes to D12S77 in the human natural killer gene complex

Long-term modifications of epileptogenesis and hippocampal rhythms after prolonged hyperthermic seizures in the mouse

Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency

Mapping around the Fused locus on mouse chromosome 17.

Mechanism of microtubule stabilization by doublecortin

Microtubule architecture in vitro and in cells revealed by cryo-electron tomography

Morphological and functional aspects of progenitors perturbed in cortical malformations

Mutation of the α-tubulin Tuba1a leads to straighter microtubules and perturbs neuronal migration

Mutations du gèneEML1/Eml1, progéniteurs neuronaux et hétérotopies chez l’homme et la souris

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons

Neuronal migration and its disorders affecting the CA3 region

Neuronal migration disorders: Focus on the cytoskeleton and epilepsy

Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum

Non-random distribution of mutations in the PHEX gene and under-detected missense mutations at non-conserved residues

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

Organelle and cellular abnormalities associated with hippocampal heterotopia in neonatal doublecortin knockout mice

Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia

Positional cloning of the PEX gene: new insights into the pathophysiology of X-linked hypophosphatemic rickets ⬇️

Preselection of shotgun clones by oligonucleotide fingerprinting: an efficient and high throughput strategy to reduce redundancy in large-scale sequencing projects.

Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1?22.2)

Retard mental et troubles de la corticogenèse

Sequence analysis of an amphioxus cosmid containing a gene homologous to members of the aldo-keto reductase gene superfamily

So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutation

Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene

Structure of the human CD94 C-type lectin gene

Template-free 13-protofilament microtubule–MAP assembly visualized at 8 Å resolution

The DNA sequence of human chromosome 21

The DNA sequence of the human X chromosome