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A developmental and genetic classification for malformations of cortical development

Neurology, 2005-12, Vol.65 (12), p.1873

2005

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Classification system for malformations of cortical development: update 2001

Neurology, 2001-12, Vol.57 (12), p.2168

2001

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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

Brain (London, England : 1878), 2006-07, Vol.129 (7), p.1892-1906

2006

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The molecular landscape of ASPM mutations in primary microcephaly

Journal of medical genetics, 2009-04, Vol.46 (4), p.249-253

2009

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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Journal of medical genetics, 2010-01, Vol.47 (1), p.8-21

2010

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Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus

Neurology, 2007-07, Vol.69 (5), p.427

2007

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Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

Neurology, 2004-07, Vol.63 (1), p.51

2004

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A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

Journal of medical genetics, 2003-11, Vol.40 (11), p.845-848

2003

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Comment on "The Brain of LB1, Homo floresiensis"

Science (American Association for the Advancement of Science), 2006-05, Vol.312 (5776), p.999; author reply 999-999

2006

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Mosaic mutations of the LIS1 gene cause subcortical band heterotopia

Neurology, 2003-10, Vol.61 (8), p.1042

2003

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Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

Neurology, 2011-01, Vol.76 (4), p.373

2011

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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

Journal of medical genetics, 2006-04, Vol.43 (4), p.334-339

2006

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Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome

Journal of medical genetics, 2004-05, Vol.41 (5), p.e61-e61

2004

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Malformations of cortical development and epilepsy

Cold Spring Harbor perspectives in medicine, 2015-05, Vol.5 (5), p.a022392-a022392

2015

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Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

Journal of medical genetics, 2003-06, Vol.40 (6), p.441-446

2003

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Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome

Human molecular genetics, 1997-02, Vol.6 (2), p.157-164

1997

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Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease

Neurology, 2001-04, Vol.56 (8), p.1059

2001

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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Journal of medical genetics, 2011-06, Vol.48 (6), p.396-406

2011

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

Neurology, 1999-07, Vol.53 (2), p.270

1999

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Polyalanine expansion of ARX associated with cryptogenic West syndrome

Neurology, 2003-07, Vol.61 (2), p.267

2003

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Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type

Neurology, 2008-11, Vol.71 (20), p.1602

2008

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Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype

Journal of medical genetics, 2005-12, Vol.42 (12), p.913-921

2005

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Refining the Neuroimaging Definition of the Dandy-Walker Phenotype

American journal of neuroradiology : AJNR, 2022-10, Vol.43 (10), p.1488-1493

2022

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Ultra-high-field MR imaging in polymicrogyria and epilepsy

American journal of neuroradiology : AJNR, 2015-02, Vol.36 (2), p.309-316

2015

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A developmental and genetic classification for malformations of cortical development

Classification system for malformations of cortical development: update 2001

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

The molecular landscape of ASPM mutations in primary microcephaly

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

Comment on "The Brain of LB1, Homo floresiensis"

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia

Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome

Malformations of cortical development and epilepsy

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

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

Polyalanine expansion of ARX associated with cryptogenic West syndrome

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype

Refining the Neuroimaging Definition of the Dandy-Walker Phenotype

Ultra-high-field MR imaging in polymicrogyria and epilepsy

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