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

Publish Date: 02/03/2018

The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations

2018 Khalid

Publish Date: 01/30/2018

COL4A1 and fetal vascular origins of schizencephaly

2017 Mao

Publish Date: 02/20/2017

Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse

2017 Trouillet

Publish Date: 01/03/2017

Col4a1 mutation generates vascular abnormalities correlated with neuronal damage in a mouse model of HANAC syndrome

2017 Abe

Publish Date: 12/23/2016

A severe pulmonary complication in a patient with COL4A1-related disorder: A case report

2017 Jeanne

Publish Date: 10/26/2016

Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations

2017 Guiraud

Publish Date: 10/25/2016

HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect

2016 Kollmann

Publish Date: 09/13/2016

‘De novo’ Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms

2017 Durrani-Kolarik

Publish Date: 04/24/2016

COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis

2016 Gale

Publish Date: 04/08/2016

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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