Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly - Wikidata - awgldk - TriplyDB

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

http://www.wikidata.org/entity/Q28281096

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Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection Polymicrogyria: a common and heterogeneous malformation of cortical development.The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse.Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.Characterization and identification of hidden rare variants in the human genome.Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.Perturbations of the cerebrovascular matrisome: A convergent mechanism in small vessel disease of the brain?ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice.HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease.Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.Small vessel disease and memory loss: what the clinician needs to know to preserve patients' brain health.Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.Neonatal hypertonia - a diagnostic challenge.Right Homonymous Hemianopia: A Clinical Case Report of Schizencephaly.De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect.Terminology in morphological anomalies of the cerebellum does matter.Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.COL4A1 mutations should not be a contraindication for epilepsy surgery.COL4A1 and fetal vascular origins of schizencephaly.Schizencephaly and Porencephaly Due to Fetal Intracranial Hemorrhage: A Report of Two Cases.Patterns and pathways of calcification in the developing brain.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.From Structure to Phenotype: Impact of Collagen Alterations on Human Health.The Genetics of Brain Malformations

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Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

http://www.wikidata.org/entity/Q28281096

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2013 nî lūn-bûn

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2013 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2013 թվականի հունվարին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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name

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

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Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

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Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

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Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

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Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

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Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

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Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

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Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

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Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

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Annals of Neurology

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Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

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Akihisa Okumura

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Akira Kumakura

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Akiyoshi Kakita

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Ayako Hattori

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Hiroshi Doi

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Hitoshi Osaka

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Jun-ichi Takanashi

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Kazuhiro Haginoya

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Kenji Yokochi

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Kiyomi Nishiyama

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P2860

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

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

Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome

A developmental and genetic classification for malformations of cortical development: update 2012

Mammalian collagen IV

The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper

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

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.

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48-57

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10.1002/ANA.23736

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P433

1

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73

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Yoshinori Tsurusaki

Hirotomo Saitsu

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2013-01-01T00:00:00Z

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233887962

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23225343

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