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

0 references

author name string

John H Livingston

series ordinal

1

1 reference

30 August 2017

Stavros Stivaros

series ordinal

2

1 reference

30 August 2017

Dan Warren

series ordinal

3

1 reference

30 August 2017

language of work or name

1 reference

30 December 2013

1 reference

Developmental Medicine and Child Neurology

30 August 2017

published in

1 reference

30 August 2017

volume

56

1 reference

30 August 2017

issue

7

1 reference

30 August 2017

page(s)

612-626

1 reference

Intracranial calcification in paediatric computed tomography

30 August 2017

cites work

1 reference

What is and what is not 'Fahr's disease'.

21 January 2018

1 reference

Presence of zinc, aluminum, magnesium in striopalledodentate (SPD) calcifications (Fahr's disease): electron probe study

21 January 2018

1 reference

Cerebroretinal microangiopathy with calcifications and cysts.

21 January 2018

1 reference

Susceptibility-Weighted MR Imaging: A Review of Clinical Applications in Children

21 January 2018

1 reference

Identification of calcification with MRI using susceptibility-weighted imaging: a case study

21 January 2018

1 reference

New MR sequences in daily practice: susceptibility weighted imaging. A pictorial essay

21 January 2018

1 reference

Three-dimensional susceptibility-weighted imaging and two-dimensional T2*-weighted gradient-echo imaging of intratumoral hemorrhages in pediatric diffuse intrinsic pontine glioma.

21 January 2018

1 reference

Recognizable phenotypes associated with intracranial calcification

21 January 2018

1 reference

Prevalences of CT-detected calcification in the basal ganglia in idiopathic hypoparathyroidism and pseudohypoparathyroidism

21 January 2018

1 reference

[Pseudohypoparathyroidism revealed by Fahr syndrome].

21 January 2018

1 reference

Intracranial calcification in children with osteopetrosis caused by carbonic anhydrase II deficiency

21 January 2018

1 reference

Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

21 January 2018

1 reference

Nephrogenic diabetes insipidus and intracerebral calcification

21 January 2018

1 reference

Intracranial calcification in central diabetes insipidus.

21 January 2018

1 reference

Neuroradiographic abnormalities in congenital cytomegalovirus infection

21 January 2018

1 reference

Neuroradiographic findings in the newborn period and long-term outcome in children with symptomatic congenital cytomegalovirus infection

21 January 2018

1 reference

The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection

21 January 2018

1 reference

Congenital toxoplasmosis. Clinical and neuroradiological evaluation of the cerebral lesions

21 January 2018

1 reference

The neonatal form of Aicardi-Goutières syndrome masquerading as congenital infection

21 January 2018

1 reference

Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis

21 January 2018

1 reference

Cystic encephalomalacia and intrauterine herpes simplex virus infection

21 January 2018

1 reference

Prenatal ultrasound diagnosis, follow-up, and outcome of congenital varicella syndrome.

21 January 2018

1 reference

Fetal brain infection with human parvovirus B19.

21 January 2018

1 reference

The prevalence of computed tomographic abnormalities of the cerebrum in 100 consecutive children symptomatic with the human immune deficiency virus

21 January 2018

1 reference

Congenital lymphocytic choriomeningitis virus infection: spectrum of disease

21 January 2018

1 reference

Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children.

21 January 2018

1 reference

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

21 January 2018

1 reference

Two siblings with microcephaly associated with calcification of cerebral white matter

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection

21 January 2018

1 reference

Therapies in Aicardi-Goutières syndrome.

21 January 2018

1 reference

Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation inRNASEH2C

21 January 2018

1 reference

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

21 January 2018

1 reference

Dyschromatosis symmetrica hereditaria associated with neurological disorders

21 January 2018

1 reference

Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up

21 January 2018

1 reference

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

21 January 2018

1 reference

Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy

21 January 2018

1 reference

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

21 January 2018

1 reference

COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage

21 January 2018

1 reference

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

21 January 2018

1 reference

COL4A1 mutations associated with a characteristic pattern of intracranial calcification.

21 January 2018

1 reference

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts

21 January 2018

1 reference

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.

21 January 2018

1 reference

Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy

21 January 2018

1 reference

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

21 January 2018

1 reference

Dyskeratosis congenita as a disorder of telomere maintenance

21 January 2018

1 reference

The neuroradiological findings in a case of Revesz syndrome

21 January 2018

1 reference

Hoyeraal-Hreidarsson syndrome: magnetic resonance imaging findings

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Neuroimaging in Cockayne syndrome.

21 January 2018

1 reference

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

21 January 2018

1 reference

Adrenoleukodystrophy: correlating MR imaging with CT.

21 January 2018

1 reference

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

21 January 2018

1 reference

Molybdenum cofactor deficiency can mimic postanoxic encephalopathy

21 January 2018

1 reference

Neuropathologic changes in a case of sulfite oxidase deficiency

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Epilepsy, occipital calcifications, and oligosymptomatic celiac disease in childhood

21 January 2018

1 reference

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

21 January 2018

1 reference

Cranial computed tomography in the phakomatoses

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification

21 January 2018

1 reference

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

21 January 2018

1 reference

Microcephaly with plate-like cortical calcification

21 January 2018

1 reference

Craniosynostosis associated with intracranial calcification: a novel recessive syndrome

21 January 2018

1 reference

Severe fetal brain dysgenesis with focal calcification.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Congenital infection-like syndrome with intracranial calcification

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Infantile neurological Degos disease

21 January 2018

1 reference

Cranial CT and MRI in malignant phenylketonuria

21 January 2018

1 reference

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

21 January 2018

1 reference

Adams-Oliver syndrome: further evidence for autosomal recessive inheritance

21 January 2018

1 reference

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

21 January 2018

1 reference

Intracranial calcification in Raine syndrome: radiological pathological correlation

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy

21 January 2018

1 reference

Intracranial calcification in hyperparathyroidism associated with gait apraxia and parkinsonism

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/DMCN.12359

1 reference

30 August 2017

1 reference