Genetic malformations of cortical development (Q28242257)

Experimental Brain Research

Europe PubMed Central

title

Genetic malformations of cortical development (English)

0 references

author

Renzo Guerrini

series ordinal

1

0 references

Carla Marini

series ordinal

2

0 references

language of work or name

English

0 references

publication date

August 2006

0 references

published in

0 references

volume

173

0 references

issue

2

0 references

page(s)

322-33

0 references

cites work

Classification system for malformations of cortical development: update 2001.

1 reference

https://api.crossref.org/works/10.1007%2FS00221-006-0501-Z

Polymicrogyria in chromosome 22 delection syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00221-006-0501-Z

Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00221-006-0501-Z

Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00221-006-0501-Z

Familial schizencephaly associated with EMX2 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00221-006-0501-Z

Multilobar polymicrogyria, intractable drop attack seizures, and sleep-related electrical status epilepticus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00221-006-0501-Z

Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00221-006-0501-Z

Seizure onset from periventricular nodular heterotopias: depth-electrode study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00221-006-0501-Z

Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00221-006-0501-Z

Autosomal recessive form of periventricular heterotopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00221-006-0501-Z

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00221-006-0501-Z

Neurological findings and seizure outcome in children with bilateral opercular macrogyric-like changes detected by MRI.

21 January 2018

1 reference

12 December 2020

Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations

1 reference

12 December 2020

Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study

1 reference

12 December 2020

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

1 reference

12 December 2020

Filamin binds to the cytoplasmic domain of the beta1-integrin. Identification of amino acids responsible for this interaction

1 reference

12 December 2020

Subcortical band heterotopia with simplified gyral pattern and syndactyly

1 reference

12 December 2020

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

1 reference

12 December 2020

Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters

1 reference

12 December 2020

Direct interaction of filamin (ABP-280) with the beta 2-integrin subunit CD18

1 reference

12 December 2020

Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.

1 reference

12 December 2020

Phosphorylation of platelet actin-binding protein during platelet activation.

1 reference

12 December 2020

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

1 reference

12 December 2020

Arthrogryposis multiplex congenita and bilateral parietal polymicrogyria in association with the intrauterine death of a twin

1 reference

12 December 2020

Biological roles of actin-binding proteins in Dictyostelium discoideum examined using genetic techniques

1 reference

12 December 2020

Developmental dyslexia: four consecutive patients with cortical anomalies

1 reference

12 December 2020

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

1 reference

12 December 2020

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

1 reference

12 December 2020

A Golgi analysis of unlayered polymicrogyria

1 reference

12 December 2020

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

1 reference

12 December 2020

Epilepsy and genetic malformations of the cerebral cortex

1 reference

12 December 2020

Periventricular nodular heterotopia with overlying polymicrogyria

1 reference

12 December 2020

Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment

1 reference

12 December 2020

Magnetic resonance imaging in developmental disorders of the cerebral cortex

1 reference

12 December 2020

Interaction of reelin signaling and Lis1 in brain development

1 reference

12 December 2020

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation

1 reference

12 December 2020

Human ARX gene: genomic characterization and expression

1 reference

12 December 2020

Periventricular and subcortical nodular heterotopia. A study of 33 patients.

1 reference

12 December 2020

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

1 reference

12 December 2020

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

1 reference

12 December 2020

Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring

1 reference

12 December 2020

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

1 reference

12 December 2020

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing

1 reference

12 December 2020

Purification of human smooth muscle filamin and characterization of structural domains and functional sites

1 reference

12 December 2020

Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations

1 reference

12 December 2020

Schizencephaly: case report of familial incidence

1 reference

12 December 2020

A role for tissue factor in cell adhesion and migration mediated by interaction with actin-binding protein 280.

1 reference

12 December 2020

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome

1 reference

12 December 2020

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene

1 reference

12 December 2020

Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit.

1 reference

12 December 2020

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

1 reference

12 December 2020

Reelin mouse mutants as models of cortical development disorders.

1 reference

12 December 2020

A3243G mitochondrial mutation associated with polymicrogyria

1 reference

12 December 2020

Functional imaging in periventricular nodular heterotopia with the use of FDG-PET and HMPAO-SPECT.

1 reference

12 December 2020

G protein-coupled receptor-dependent development of human frontal cortex

1 reference

12 December 2020

Interaction of presenilins with the filamin family of actin-binding proteins

1 reference

12 December 2020

Congenital bilateral perisylvian syndrome in a monozygotic twin with intra-uterine death of the co-twin.

1 reference

12 December 2020

Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes

1 reference

12 December 2020

Nonlissencephalic cortical dysplasias: correlation of imaging findings with clinical deficits

1 reference

12 December 2020

Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?

1 reference

12 December 2020

Nuclear migration, nucleokinesis and lissencephaly

1 reference

12 December 2020

Genetic and neuroradiological heterogeneity of double cortex syndrome.

1 reference

12 December 2020

Genetics of the polymicrogyria syndromes.

1 reference

12 December 2020

Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1

1 reference

12 December 2020

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia

1 reference

12 December 2020

LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ

1 reference

12 December 2020

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings

1 reference

12 December 2020

Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]

1 reference

12 December 2020

A locus for bilateral perisylvian polymicrogyria maps to Xq28

1 reference

12 December 2020

A developmental and genetic classification for malformations of cortical development

1 reference

12 December 2020

Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia

1 reference

12 December 2020

Direct binding of Reelin to VLDL receptor and ApoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation

1 reference

12 December 2020

Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development

1 reference

12 December 2020

In situ phosphorylation of platelet actin-binding protein by cAMP-dependent protein kinase stabilizes it against proteolysis by calpain

1 reference

12 December 2020

Epilepsy and focal gyral anomalies detected by MRI: electroclinico-morphological correlations and follow-up

1 reference

12 December 2020

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

1 reference

12 December 2020

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

1 reference

12 December 2020

Platelet-activating factor receptor stimulation disrupts neuronal migration In vitro.

1 reference

12 December 2020

Bilateral parasagittal parietooccipital polymicrogyria and epilepsy

1 reference

12 December 2020

Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.

1 reference

12 December 2020

Neuronal migration disorders, genetics, and epileptogenesis

1 reference

12 December 2020

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

1 reference

12 December 2020

Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome.

1 reference

12 December 2020

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

1 reference

12 December 2020

MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings

1 reference

12 December 2020

Lissencephaly and the molecular basis of neuronal migration

1 reference

12 December 2020

Polymicrogyria and absence of pineal gland due to PAX6 mutation

1 reference

12 December 2020

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome

1 reference

12 December 2020

Identification of the region in actin-binding protein that binds to the cytoplasmic domain of glycoprotein IBalpha

1 reference

12 December 2020

An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21

1 reference

12 December 2020