The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. (Q30900506)

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title

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature (English)

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2

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Liesbeth S Smit

3

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René de Coo

6

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Linda S de Vries

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Grazia M S Mancini

12

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author name string

Marije E C Meuwissen

1

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Maarten H Lequin

4

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Jan M Cobben

5

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1 March 2020

Jeske van Harssel

7

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Suzanne Sallevelt

8

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Gwendolyn Woldringh

9

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1 March 2020

Marjo S van der Knaap

10

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language of work or name

English

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publication date

26 February 2015

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volume

17

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issue

11

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page(s)

843-853

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Familial porencephaly and congenital hemiplegia.

1 March 2020

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Hereditary porencephaly: clinical and MRI findings in two Dutch families.

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Neuroimaging fails to identify asymptomatic carriers of familial porencephaly

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

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Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

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Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly

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COL4A1 mutation in preterm intraventricular hemorrhage

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Ophthalmological features associated with COL4A1 mutations

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COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage

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COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans

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COL4A1 mutations associated with a characteristic pattern of intracranial calcification.

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Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly

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COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

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Childhood presentation of COL4A1 mutations

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Clinical and brain MRI follow-up study of a family with COL4A1 mutation

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COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.

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COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage

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Mammalian collagen IV

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Molecular recognition in the assembly of collagens: terminal noncollagenous domains are key recognition modules in the formation of triple helical protomers.

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COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets

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COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke

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COL4A2 mutation associated with familial porencephaly and small-vessel disease

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

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Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

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A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.

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Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome

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Intracerebral hemorrhage in a young man

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Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain

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Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency

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Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

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Looking at the missing brain: hydranencephaly case series and literature review.

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Recognizable phenotypes associated with intracranial calcification

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Familial porencephaly

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7 January 2021

COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke

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7 January 2021

Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI

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7 January 2021

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Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation

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7 January 2021

Abnormal microstructure of the atrophic thalamus in preterm survivors with periventricular leukomalacia

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7 January 2021

Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis

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7 January 2021