Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts (original) (raw)

Bilateral Symmetrical Lissencephaly with Pachygyria: A Case Report

International Journal of Anatomy and Research

A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly: Report of a case and review of literature

Shubha Phadke

Neurology India, 2007

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Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment

Andre Luiz

Annals of Neurology, 2000

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Lissencephaly type III, stippled epiphyses and loose, thick skin: A new recessively inherited syndrome

Marc Hermier

American Journal of Medical Genetics, 2001

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Intracranial arachnoid cyst family with autosomal recessive trait mapped to chromosome 6q22.31-23.2

H. Zafer Kars

Acta Neurochirurgica, 2012

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Genotype and MRI phenotype in classical lissencephaly

Rafika Alouini

Journal of Neuroradiology, 2013

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Autosomal recessive frontotemporal pachygyria

Dorian Ramirez

American Journal of Medical Genetics, 2003

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Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia

Josh Chute

Acta Neuropathologica, 2004

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Epilepsy and malformations of the cerebral cortex

Federico Sicca

2003

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Etiological classification of CNS malformations: integration of molecular genetic and morphological criteria

Harvey Sarnat

Epileptic Disorders International Epilepsy Journal With Videotape, 2003

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Infantile spasms associated with lissencephaly pachygyria in a female twin

Rajeev Jain

Neurology India, 2010

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Lissencephalic syndromes: brain and beyond

Paola Iannetti

Frontiers in Bioscience, 2010

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Pachygyria with cerebellar hypoplasia and tigroid pattern of the white matter secondary to neuronal migration disorders

Jihane El houssni

International Journal of Case Reports and Images

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Central nervous system malformations: gene locations of known human mutations

Harvey Sarnat

European Journal of Paediatric Neurology, 2003

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Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene

Devi Dayal

Pediatric Endocrinology Diabetes and Metabolism

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A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome

Margot Van Allen

The Journal of Pediatrics, 1983

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Isolated lissencephaly sequence with contiguous gene deletion detected by FISH analysis: a case report

Anannit Visudtibhan

Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 2002

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Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

William Dobyns, Neil Stoodley, Cathy Stevens, Shehla Mohammed

American Journal of Medical Genetics Part A, 2006

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Integrative classification of morphology and molecular genetics in central nervous system malformations

Harvey Sarnat

American Journal of Medical Genetics, 2004

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Malformations of cortical development: clinical spectrum in a series of 101 patients and review of the literature (Part I)

Guzide Turanli

2007

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PP05.11 – 3025: A new syndrome with postnatal microcephaly, mental retardation, spastic quadriplegia and pontocerebellar atrophy in Caucasus-Jewish families

Aviva Fattal-valevski

European Journal of Paediatric Neurology, 2015

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Clinical manifestations and evaluation of isolated lissencephaly

Renata Rizzo

Child's Nervous System, 1993

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Severe, non X-linked congenital microcephaly with absence of the pyramidal tracts in two siblings

Hans J. ten Donkelaar

Acta Neuropathologica, 1999

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Agyria ? pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies

O. Robain

Human Genetics, 1988

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Clinical and molecular basis of classical lissencephaly: Mutations in theLIS1 gene (PAFAH1B1

Carlos Cardoso

Human Mutation, 2002

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A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly

Yasar Bayri

Journal of Neurosurgery: Pediatrics, 2007

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Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts (original) (raw)

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