(Q28243987)

https://api.crossref.org/works/10.1111/J.0013-9580.2005.461010.X

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2005.461010.X

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2005.461010.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2005.461010.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2005.461010.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2005.461010.X

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2005.461010.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2005.461010.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2005.461010.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.0013-9580.2005.461010.X

Classification system for malformations of cortical development: update 2001.

21 April 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Epilepsy and genetic malformations of the cerebral cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Autosomal recessive form of periventricular heterotopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

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/10.1111%2FJ.0013-9580.2005.461010.X

Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Periventricular nodular heterotopia and intractable temporal lobe epilepsy: poor outcome after temporal lobe resection.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Genetic and neuroradiological heterogeneity of double cortex syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Band heterotopia: correlation of outcome with magnetic resonance imaging parameters

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Diffuse cortical dysplasia, or the 'double cortex' syndrome: the clinical and epileptic spectrum in 10 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Surgical resection for intractable epilepsy in "double cortex" syndrome yields inadequate results.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Developmental dyslexia: four consecutive patients with cortical anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Bilateral parasagittal parietooccipital polymicrogyria and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

A locus for bilateral perisylvian polymicrogyria maps to Xq28

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

Polymicrogyria in chromosome 22 delection syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2005.461010.X