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

Variants of Anterior Segment Dysgenesis and Cerebral Involvement in a Large Family With a Novel COL4A1 Mutation

(2013) Eyvind Rødahl et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Looking at the Missing Brain: Hydranencephaly Case Series and Literature Review

(2013) Giovanni Cecchetto et al.   PEDIATRIC NEUROLOGY

Susceptibility-Weighted Imaging is More Reliable Than T2*-Weighted Gradient-Recalled Echo MRI for Detecting Microbleeds

(2013) Ah-Ling Cheng et al.   STROKE

Phenotypic Spectrum ofCOL4A1Mutations: Porencephaly to Schizencephaly

(2012) Yuriko Yoneda et al.   ANNALS OF NEUROLOGY

Childhood presentation of COL4A1 mutations

(2012) SIDDHARTH SHAH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Recognizable phenotypes associated with intracranial calcification

(2012) JOHN H LIVINGSTON et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

COL4A2 mutation associated with familial porencephaly and small-vessel disease

(2012) Elly Verbeek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency

(2012) R. Lemmens et al.   HUMAN MOLECULAR GENETICS

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

(2012) D. S. Kuo et al.   HUMAN MOLECULAR GENETICS

Schizencephaly

(2012) Kira A. Dies et al.   JOURNAL OF CHILD NEUROLOGY

COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers

(2012) Anna Pichiecchio et al.   NEUROPEDIATRICS

Prenatal genetic confirmation of aCOL4A1mutation presenting with sonographic fetal intracranial hemorrhage

(2012) K. D. Lichtenbelt et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Fetal intracerebral hemorrhage andCOL4A1mutation: promise and uncertainty

(2012) C. Garel et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly

(2011) Yuriko Yoneda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke

(2011) Marion Jeanne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage

(2011) Yi-Chinn Weng et al.   ANNALS OF NEUROLOGY

Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly

(2011) M. E. C. Meuwissen et al.   NEUROLOGY

Fetal Origin of Brain Damage in 2 Infants with aCOL4A1Mutation: Fetal and Neonatal MRI

(2011) R. J. Vermeulen et al.   NEUROPEDIATRICS

COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification

(2011) J. Livingston et al.   NEUROPEDIATRICS

COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans

(2011) Cassandre Labelle-Dumais et al.   PLoS Genetics

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

(2010) Emmanuelle Plaisier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ophthalmological Features Associated With COL4A1 Mutations

(2010) Isabelle Coupry   ARCHIVES OF OPHTHALMOLOGY

Intracerebral hemorrhage in a young man

(2010) S. B. Coutts et al.   CANADIAN MEDICAL ASSOCIATION JOURNAL

Incidence, case fatality, and functional outcome of intracerebral haemorrhage over time, according to age, sex, and ethnic origin: a systematic review and meta-analysis

(2010) Charlotte JJ van Asch et al.   LANCET NEUROLOGY

ACUTE URINARY RETENTION DUE TO A NOVEL COLLAGEN COL4A1 MUTATION

(2010) T. Rouaud et al.   NEUROLOGY

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

(2009) Linda S. de Vries et al.   ANNALS OF NEUROLOGY

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

(2009) Siddharth Shah et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

(2009) Y. J. Crow et al.   HUMAN MOLECULAR GENETICS

COL4A1 Mutation in Preterm Intraventricular Hemorrhage

(2009) Kaya Bilguvar et al.   JOURNAL OF PEDIATRICS

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection

(2009) Marco Henneke et al.   NATURE GENETICS

Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome

(2009) S. Alamowitch et al.   NEUROLOGY

Mammalian collagen IV

(2008) Jamshid Khoshnoodi et al.   MICROSCOPY RESEARCH AND TECHNIQUE