Research Papers

Research Papers are ordered by date, newest to oldest.  Click the paper name or read more link to see details (excerpt) and to access the file that is available for download. 
2018 Cornec-Le Gall
The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations
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2018 Khalid
COL4A1 and fetal vascular origins of schizencephaly
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2017 Mao
Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse
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2017 Trouillet
Col4a1 mutation generates vascular abnormalities correlated with neuronal damage in a mouse model of HANAC syndrome
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2017 Abe
A severe pulmonary complication in a patient with COL4A1-related disorder: A case report
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2017 Jeanne
Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations
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2017 Guiraud
HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect
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2016 Kollmann
‘De novo’ Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms
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2017 Durrani-Kolarik
COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis
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2016 Gale
A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen
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