(Q41936462)

14 October 2017

title

Clinical and brain imaging heterogeneity of severe microcephaly (English)

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14 October 2017

Clinical and Brain Imaging Heterogeneity of Severe Microcephaly (English)

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https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2010.02.015

16 June 2024

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2

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14 October 2017

1

Lina Basel-Vanagaite

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language of work or name

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1 July 2010

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full work available at URL

14 October 2017

https://api.elsevier.com/content/article/PII:S0887899410000962?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2010.02.015

https://api.elsevier.com/content/article/PII:S0887899410000962?httpAccept=text/plain

16 June 2024

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2010.02.015

16 June 2024

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14 October 2017

volume

43

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14 October 2017

issue

1

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14 October 2017

page(s)

7-16

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Primary microcephaly: new approaches for an old disorder

14 October 2017

cites work

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The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype

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ASPM is a major determinant of cerebral cortical size

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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

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Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly

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Human malformations of the midbrain and hindbrain: review and proposed classification scheme

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A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.

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Early fatal pontocerebellar hypoplasia with simplified cerebral gyration and pseudolissencephaly. A neuroradiological pitfall

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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

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New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death

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"Apple-peel" intestinal atresia, ocular anomalies, and microcephaly syndrome: brain magnetic resonance imaging study

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Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal

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Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria

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Microcephaly with chorioretinal dysplasia: Characteristic facial features

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Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly.

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16 June 2024

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Possible new syndrome of microcephaly with cortical migration defects, Peters anomaly and multiple intestinal atresias: a multiple vascular disruption syndrome.

16 June 2024

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Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance

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16 June 2024

Identifiers

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14 October 2017

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