(Q38174078)

30 August 2017

title

Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes (English)

1 reference

30 August 2017

Yanick J Crow

4

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author name string

John H Livingston

series ordinal

1

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30 August 2017

Stavros Stivaros

series ordinal

2

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30 August 2017

Dan Warren

series ordinal

3

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30 August 2017

language of work or name

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30 December 2013

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Developmental Medicine and Child Neurology

30 August 2017

published in

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30 August 2017

volume

56

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30 August 2017

issue

7

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30 August 2017

page(s)

612-626

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Intracranial calcification in paediatric computed tomography

30 August 2017

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RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

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Two siblings with microcephaly associated with calcification of cerebral white matter

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Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease

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Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria

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Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome)

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

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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

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

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Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

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Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation

21 January 2018

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Dyschromatosis symmetrica hereditaria associated with neurological disorders

21 January 2018

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Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up

21 January 2018

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Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

21 January 2018

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Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy

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

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COL4A1 mutations associated with a characteristic pattern of intracranial calcification.

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21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

21 January 2018

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

21 January 2018

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A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

21 January 2018

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Neuroimaging in Cockayne syndrome.

21 January 2018

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Intracranial calcification in early infantile Krabbe disease: nothing new under the sun.

21 January 2018

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Adrenoleukodystrophy: correlating MR imaging with CT.

21 January 2018

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Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis

21 January 2018

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Molybdenum cofactor deficiency can mimic postanoxic encephalopathy

21 January 2018

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Neuropathologic changes in a case of sulfite oxidase deficiency

21 January 2018

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Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

21 January 2018

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Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

21 January 2018

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Coeliac disease, epilepsy, and cerebral calcifications. The Italian Working Group on Coeliac Disease and Epilepsy

21 January 2018

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Epilepsy, occipital calcifications, and oligosymptomatic celiac disease in childhood

21 January 2018

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Coeliac disease, epilepsy, and cerebral calcifications: association with TG6 autoantibodies

21 January 2018

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Cranial computed tomography in the phakomatoses

21 January 2018

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Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ

21 January 2018

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Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity

21 January 2018

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Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification

21 January 2018

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Growth failure, intracranial calcifications, acquired pancytopenia, and unusual humoral immunodeficiency: a genetic syndrome?

21 January 2018

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Microcephaly with plate-like cortical calcification

21 January 2018

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Craniosynostosis associated with intracranial calcification: a novel recessive syndrome

21 January 2018

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Severe fetal brain dysgenesis with focal calcification.

21 January 2018

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Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?

21 January 2018

1 reference

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Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.

21 January 2018

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https://api.crossref.org/works/10.1111%2FDMCN.12359

Congenital infection-like syndrome with intracranial calcification

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12359

Progressive leukoencephalopathy with intracranial calcification, congenital deafness, and developmental deterioration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12359

Congenital dysplastic microcephaly and hypoplasia of the brainstem and cerebellum with diffuse intracranial calcification

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12359

Adult onset leukodystrophy with neuroaxonal spheroids and demyelinating plaque-like lesions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12359

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

21 January 2018

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https://api.crossref.org/works/10.1111%2FDMCN.12359

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

21 January 2018

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Infantile neurological Degos disease.

21 January 2018

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Cranial CT and MRI in malignant phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12359

Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12359

Adams-Oliver syndrome: further evidence for autosomal recessive inheritance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12359

Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12359

Intracranial calcification in Raine syndrome: radiological pathological correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12359

Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12359

Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: A distinctive form of congenital infection like syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12359

New subtype of familial intracranial calcification in a mother and two children

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12359

Intracerebral hemorrhage and COL4A1 mutations, from preterm infants to adult patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12359

Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12359

Intracranial calcification in hyperparathyroidism associated with gait apraxia and parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12359

21 January 2018

Identifiers

DOI

10.1111/DMCN.12359

1 reference

30 August 2017

1 reference