Research
- Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development
- PDF Download: 2004 Poschl
- Published: 3 March 2004
- Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly
- PDF Download: 2004 Aguglia
- Published: 11 May 2004
- Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly
- PDF Download: 2005 Gould
- Published: 20 May 2005
- Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly
- PDF Download: 2005b Gould
- Published: 20 May 2005
- Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly
- PDF Download: 2006 Breedveld
- Published: 17 August 2005
- Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy
- PDF Download: 2005 Van Agtmael
- Published: 13 September 2005
- Neonatal Porencephaly and Adult Stroke Related to Mutations in Collagen IV A1
- PDF Download: 2006 van der Knaap
- Published: 22 December 2005
- Role of COL4A1 in Small-Vessel Disease and Hemorrhagic Stroke
- PDF Download: 2006b Gould
- Published: 6 April 2006
- Role of COL4A1 in Small-Vessel Disease and Hemorrhagic Stroke
- PDF Download: 2006 Gould
- Published: 6 April 2006
- Type IV Procollagen Missense Mutations Associated With Defects of the Eye, Vascular Stability, the Brain, Kidney Function and Embryonic or Postnatal Viability in the Mouse, Mus musculus: An Extension of the Col4a1 Allelic Series and the Identification of the First Two Col4a2 Mutant Alleles
- PDF Download: 2007 Favor
- Published: 18 December 2006
- Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis
- PDF Download: 2007 Gould
- Published: 22 February 2007
- COL4A1 Mutation in a Patient With Sporadic, Recurrent Intracerebral Hemorrhage
- PDF Download: 2007 Vahedi
- Published: 1 May 2007
- COL4A1 Mutation in Axenfeld–Rieger Anomaly with Leukoencephalopathy and Stroke
- PDF Download: 2007 Sibon
- Published: 14 August 2007
- Clinical and brain MRI follow-up study of a family with COL4A1 mutation
- PDF Download: 2007b Vahedi
- Published: 16 October 2007
- Intracerebral Hemorrhage and COL4A1 Mutations, from Preterm Infants to Adult Patients
- PDF Download: 2009 Mine
- Published: 1 January 2009
- COL4A1 Mutation in Two Preterm Siblings with Antenatal Onset of Parenchymal Hemorrhage
- PDF Download: 2009 de Vries
- Published: 12 February 2009
- Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume
- PDF Download: 2010 Van Agtmael
- Published: 7 January 2010
- COL4A1 Mutation in Preterm Intraventricular Hemorrhage
- PDF Download: 2009 Bilguvar
- Published: 13 June 2010
- ACUTE URINARY RETENTION DUE TO A NOVEL COLLAGEN COL4A1 MUTATION
- PDF Download: 2010 Rouaud
- Published: 24 August 2010
- Intracerebral hemorrhage in a young man
- PDF Download: 2011 Coutts
- Published: 11 January 2011
- Tendon Is Covered by a Basement Membrane Epithelium That Is Required for Cell Retention and the Prevention of Adhesion Formation
- PDF Download: 2011 Taylor
- Published: 26 January 2011
- ANTI-A B AUTOANTIBODIES IN THE CSF OF A PATIENT WITH CAA-RELATED INFLAMMATION: A CASE REPORT
- PDF Download: 2011 Meuwissen
- Published: 1 March 2011
- Fetal Origin of Brain Damage in 2 Infants with a COL4A1 Mutation: Fetal and Neonatal MRI
- PDF Download: 2011 Vermeulen
- Published: 5 April 2011
- COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans
- PDF Download: 2011 Labelle-Dumais
- Published: 19 May 2011
- Atypical timing and presentation of periventricular haemorrhagic infarction in preterm infants: the role of thrombophilia
- PDF Download: 2012 Harteman
- Published: 18 November 2011
- COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke
- PDF Download: 2012 Jeanne
- Published: 13 January 2012
- De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen a2 Chain Cause Porencephaly
- PDF Download: 2012 Yoneda
- Published: 13 January 2012
- Intracerebral Hemorrhage and COL4A1 and COL4A2 Mutations, from Fetal Life into Adulthood
- PDF Download: 2012 deVries
- Published: 1 February 2012
- COL4A2 mutation associated with familial porencephaly and small-vessel disease
- PDF Download: 2012 Verbeek
- Published: 15 February 2012
- A new family with autosomal dominant porencephaly with a novel COL4A1 mutation. Are arachnoid cysts related to COL4A1 mutations?
- PDF Download: 2012 Degerliyurt
- Published: 1 April 2012
- Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage
- PDF Download: 2012 Lichtenbelt
- Published: 9 May 2012
- Fetal intracerebral hemorrhage and COL4A1 mutation: promise and uncertainty
- PDF Download: 2013 Garel
- Published: 18 July 2012
- COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers
- PDF Download: 2012 Tonduti
- Published: 29 August 2012
- Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency
- PDF Download: 2013 Lemmens
- Published: 12 October 2012
- Recognizable phenotypes associated with intracranial calcification
- PDF Download: 2013 Livingston
- Published: 1 November 2012
- Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly
- PDF Download: 2013 Yoneda
- Published: 7 December 2012
- Variants of Anterior Segment Dysgenesis and Cerebral Involvement in a Large Family With a Novel COL4A1 Mutation
- PDF Download: 2013 Rodahl
- Published: 6 February 2013
- COL4A1 Mutation Revealed by an Isolated Brain Hemorrhage
- PDF Download: 2013 Corlobe
- Published: 10 July 2013
- Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations
- PDF Download: 2014 Kuo
- Published: 7 November 2013
- Severe Hemolytic Jaundice in a Neonate with a Novel COL4A1 Mutation
- PDF Download: 2016 Tomotaki
- Published: 23 May 2014
- COL4A1 mutations should not be a contraindication for epilepsy surgery
- PDF Download: 2014 Papandreou
- Published: 27 May 2014
- Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications
- PDF Download: 2014 Renard
- Published: 9 September 2014
- Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity
- PDF Download: 2014 Zenteno
- Published: 17 September 2014
- Porencephaly in a Fetus and HANAC in Her Father: Variable Expression of COL4A1 Mutation
- PDF Download: 2015 Takenouchi
- Published: 1 January 2015
- Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects
- PDF Download: 2015 Slavotinek
- Published: 6 January 2015
- The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature
- PDF Download: 2015 Meuwissen
- Published: 26 February 2015
- Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention
- PDF Download: 2015 Jeanne
- Published: 9 March 2015
- Two families with novel missense mutations in COL4A1: When diagnosis can be missed
- PDF Download: 2015 Giorgio
- Published: 7 April 2015
- Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma
- PDF Download: 2015 Plancher
- Published: 2 June 2015
- HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease
- PDF Download: 2016 Chen
- Published: 16 June 2015
- COL4A1 gene mutation – beyond a vascular syndrome
- PDF Download: 2015 John
- Published: 3 July 2015
- Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice
- PDF Download: 2015 Mao
- Published: 22 October 2015
- ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice
- PDF Download: 2016 Jones
- Published: 24 November 2015
- Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation
- PDF Download: 2016 Gasparini
- Published: 19 December 2015
- A Mutation in COL4A2 Causes Autosomal Dominant Porencephaly With Cataracts
- PDF Download: 2016 Ha
- Published: 28 December 2015
- Col4a1 mutations cause progressive retinal neovascular defects and retinopathy
- PDF Download: 2016 Alavi
- Published: 27 January 2016
- Novel COL4A1 Mutation in an Infant with Severe Dysmorphic Syndrome with Schizencephaly, Periventricular Calcifications, and Cataract Resembling Congenital Infection
- PDF Download: 2016 Smigiel
- Published: 16 February 2016
- Altered stress fibers and integrin expression in the Malpighian epithelium of Drosophila type IV collagen mutants
- PDF Download: 2016 Kiss
- Published: 19 March 2016
- A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen
- PDF Download: 2016 Gale
- Published: 8 April 2016
- COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis
- PDF Download: 2017 Durrani-Kolarik
- Published: 24 April 2016
- ‘De novo’ Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms
- PDF Download: 2016 Kollmann
- Published: 13 September 2016
- HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect
- PDF Download: 2017 Guiraud
- Published: 25 October 2016
- Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations
- PDF Download: 2017 Jeanne
- Published: 26 October 2016
- A severe pulmonary complication in a patient with COL4A1-related disorder: A case report
- PDF Download: 2017 Abe
- Published: 23 December 2016
- Col4a1 mutation generates vascular abnormalities correlated with neuronal damage in a mouse model of HANAC syndrome
- PDF Download: 2017 Trouillet
- Published: 3 January 2017
- Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse
- PDF Download: 2017 Mao
- Published: 20 February 2017
- COL4A1 and fetal vascular origins of schizencephaly
- PDF Download: 2018 Khalid
- Published: 30 January 2018
- The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations
- PDF Download: 2018 Cornec-Le Gall
- Published: 3 February 2018
- Severity of arterial defects in the retina correlates with the burden of intracerebral haemorrhage in COL4A1-related stroke
- PDF Download: 2018 Ratelade
- Published: 14 February 2018
- Use of sodium 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in Col4a1 mutant mice
- PDF Download: 2018 Hayashi
- Published: 31 May 2018
- Further refinement of COL4A1 and COL4A2 related cortical malformations
- PDF Download: 2018 Cavallin
- Published: 11 October 2018
- 4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease
- PDF Download: 2019 Jones
- Published: 22 October 2018
- Neurologic phenotypes associated with COL4A1/2 mutations
- PDF Download: 2018 Zagaglia
- Published: 27 November 2018
- Cortical malformations and COL4A1 mutation: Three new cases
- PDF Download: 2019 Vitale
- Published: 22 February 2019
- Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 Mutation
- PDF Download: 2019 Watanabe
- Published: 25 April 2019
- COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity
- PDF Download: 2019 Labelle-Dumais
- Published: 2 May 2019
- COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective
- PDF Download: 2019 Nau
- Published: 22 May 2019
- Abnormal Expression of Collagen IV in Lens Activates Unfolded Protein Response Resulting in Cataract
- PDF Download: 2009 Firtina
- Published: 2 April 2020
- Ophthalmological Features Associated With COL4A1 Mutations
- PDF Download: 2010 Coupry
- Published: 5 April 2020
