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: 2005b Gould
Published: 20 May 2005
Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly
PDF Download: 2005 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: 2006 Gould
Published: 6 April 2006
Role of COL4A1 in Small-Vessel Disease and Hemorrhagic Stroke
PDF Download: 2006b 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
De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen a2 Chain Cause Porencephaly
PDF Download: 2012 Yoneda
Published: 13 January 2012
COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke
PDF Download: 2012 Jeanne
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

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