Recognizable phenotypes associated with intracranial calcification. - Wikidata - awgldk - TriplyDB

Recognizable phenotypes associated with intracranial calcification.

Recognizable phenotypes associated with intracranial calcification.

http://www.wikidata.org/entity/Q39526484

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From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Bilateral symmetrical basal ganglia and thalamic lesions in children: an update (2015).Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.A massive calcification and ossification of the transverse sinus and the neighbouring dura mimicking meningioma.Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation.What role (if any) does the highly conserved CSB-PGBD3 fusion protein play in Cockayne syndrome?Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.Neonatal hypertonia - a diagnostic challenge.Type I interferon dysregulation and neurological disease.Brain calcifications and PCDH12 variants.Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization.Cockayne syndrome: Clinical features, model systems and pathways.APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review.Aicardi-Goutières syndrome: unusual neuro-radiological manifestations.Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.Common pathways of intracranial calcification and the role of the pericyte: insights from neuropathology.Patterns and pathways of calcification in the developing brain.A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum Encephalopathies with intracranial calcification in children: clinical and genetic characterization

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P2860

Recognizable phenotypes associated with intracranial calcification.

http://www.wikidata.org/entity/Q39526484

description

2012 nî lūn-bûn

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

@zh-tw

2012年论文

@wuu

2012年论文

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2012年论文

@zh-cn

name

Recognizable phenotypes associated with intracranial calcification.

@en

Recognizable phenotypes associated with intracranial calcification.

@nl

type

label

Recognizable phenotypes associated with intracranial calcification.

@en

Recognizable phenotypes associated with intracranial calcification.

@nl

prefLabel

Recognizable phenotypes associated with intracranial calcification.

@en

Recognizable phenotypes associated with intracranial calcification.

@nl

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J.1469-8749.2012.04437.X

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Developmental Medicine and Child Neurology

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Recognizable phenotypes associated with intracranial calcification.

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John H Livingston

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Marjo S van der Knaap

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Stavros Stivaros

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P2860

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument.

Genetic assessment of cortical malformations.

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

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