| 1 |
Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.
61
24
|
Plaisier E...Ronco P
|
20818663 |
2010 |
| 2 |
A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen.
24
|
Gale DP...Neild GH
|
27190376 |
2016 |
| 3 |
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
24
|
Meuwissen ME...Mancini GM
|
25719457 |
2015 |
| 4 |
COL4A1 gene mutation--beyond a vascular syndrome.
24
|
John S...Uchino K
|
26362372 |
2015 |
| 5 |
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
24
|
Ayrignac X...Labauge P
|
25527826 |
2015 |
| 6 |
Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.
24
|
Zenteno JC...Marieges MT
|
25228067 |
2014 |
| 7 |
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
24
|
Chassaing N...Calvas P
|
24033328 |
2014 |
| 8 |
A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family.
24
|
Xia XY...Xue CY
|
25124159 |
2014 |
| 9 |
COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy.
24
|
Gunda B...Tournier-Lasserve E
|
24390199 |
2014 |
| 10 |
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
24
|
Rodahl E...Boman H
|
23394911 |
2013 |
| 11 |
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
24
|
Yoneda Y...Saitsu H
|
23225343 |
2013 |
| 12 |
COL4A2 mutation associated with familial porencephaly and small-vessel disease.
24
|
Verbeek E...Mancini GM
|
22333902 |
2012 |
| 13 |
Childhood presentation of COL4A1 mutations.
24
|
Shah S...Jardine P
|
22574627 |
2012 |
| 14 |
De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.
24
|
Yoneda Y...Saitsu H
|
22209246 |
2012 |
| 15 |
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
24
|
Jeanne M...Gould DB
|
22209247 |
2012 |
| 16 |
COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
24
|
Livingston J...Crow Y
|
22134833 |
2011 |
| 17 |
Ophthalmological features associated with COL4A1 mutations.
24
|
Coupry I...Goizet C
|
20385946 |
2010 |
| 18 |
A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.
24
|
Shah S...Jardine P
|
19477666 |
2010 |
| 19 |
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.
24
|
Alamowitch S...Ronco P
|
19949034 |
2009 |
| 20 |
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
24
|
Plaisier E...Ronco P
|
18160688 |
2007 |
| 21 |
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
24
|
Richards A...Atkinson JP
|
17660820 |
2007 |
| 22 |
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
24
|
Sibon I...Goizet C
|
17696175 |
2007 |
| 23 |
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.
24
|
Vahedi K...Bousser MG
|
17379824 |
2007 |
| 24 |
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
24
|
Breedveld G...Mancini GM
|
16107487 |
2006 |
| 25 |
Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
24
|
Gould DB...John SW
|
16598045 |
2006 |
| 26 |
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.
24
|
van der Knaap MS...Heutink P
|
16374828 |
2006 |
| 27 |
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
24
|
Gould DB...John SW
|
15905400 |
2005 |
| 28 |
Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.
24
|
Ophoff RA...Frants RR
|
11438888 |
2001 |
| 29 |
Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).
24
|
Jen J...Baloh RW
|
9371916 |
1997 |
| 30 |
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.
24
|
Joutel A...Tournier-Lasserve E
|
8878478 |
1996 |
| 31 |
Expanding the phenotype of COL4A1-related disorders-Four novel variants.
61
|
Nishimura N...Kurosawa K
|
32565002 |
2020 |
| 32 |
Life-threatening muscle complications of COL4A1-related disorder.
61
|
Okano S...Azuma H
|
31540749 |
2020 |
| 33 |
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
61
|
Kitzler TM...Hildebrandt F
|
31230195 |
2019 |
| 34 |
Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review.
61
|
Ayrignac X...Labauge P
|
28628708 |
2017 |
| 35 |
A severe pulmonary complication in a patient with COL4A1-related disorder: A case report.
61
|
Abe Y...Ihara K
|
28017902 |
2017 |
| 36 |
Severe Hemolytic Jaundice in a Neonate with a Novel COL4A1 Mutation.
61
|
Tomotaki S...Hata D
|
24861536 |
2016 |
| 37 |
HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease.
61
|
Chen Z...Plaisier E
|
26260163 |
2016 |
| 38 |
Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
61
|
Giorgio E...Brussino A
|
25873210 |
2015 |
| 39 |
Review: molecular genetics and pathology of hereditary small vessel diseases of the brain.
61
|
Yamamoto Y...Kalaria RN
|
21062344 |
2011 |
| 40 |
COL4A1-Related Disorders
61
|
Plaisier E...Ronco P
|
20301768 |
2009 |
