1 |
Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.
25
6
61
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Plaisier E...Ronco P
|
20818663 |
2010 |
2 |
Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.
25
6
|
Zenteno JC...Marieges MT
|
25228067 |
2014 |
3 |
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
6
25
|
Rodahl E...Boman H
|
23394911 |
2013 |
4 |
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
6
25
|
Yoneda Y...Saitsu H
|
23225343 |
2013 |
5 |
Childhood presentation of COL4A1 mutations.
25
6
|
Shah S...Jardine P
|
22574627 |
2012 |
6 |
Ophthalmological features associated with COL4A1 mutations.
25
6
|
Coupry I...Goizet C
|
20385946 |
2010 |
7 |
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
6
25
|
Plaisier E...Ronco P
|
18160688 |
2007 |
8 |
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
6
25
|
Sibon I...Goizet C
|
17696175 |
2007 |
9 |
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
6
25
|
Breedveld G...Mancini GM
|
16107487 |
2006 |
10 |
Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
6
25
|
Gould DB...John SW
|
16598045 |
2006 |
11 |
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
6
25
|
Gould DB...John SW
|
15905400 |
2005 |
12 |
A severe pulmonary complication in a patient with COL4A1-related disorder: A case report.
61
6
|
Abe Y...Ihara K
|
28017902 |
2017 |
13 |
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
6
|
Deml B...Semina EV
|
24628545 |
2014 |
14 |
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.
6
|
Lemmens R...Zwijnenburg PJ
|
23065703 |
2013 |
15 |
COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.
6
|
de Vries LS...Mancini G
|
19194877 |
2009 |
16 |
Familial retinal arterial tortuosity associated with tortuosity in nail bed capillaries.
6
|
Gekeler F...Gelisken F
|
17030722 |
2006 |
17 |
Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly.
6
|
Aguglia U...Heutink P
|
15136694 |
2004 |
18 |
Hereditary porencephaly: clinical and MRI findings in two Dutch families.
6
|
Mancini GM...Arts WF
|
15023374 |
2004 |
19 |
Familial porencephalic white matter disease in two generations.
6
|
Smit LM...Njiokiktjien C
|
6428250 |
1984 |
20 |
Hereditary diseases of the eye in a study of blind and partially sighted.
6
|
Odland M
|
7257746 |
1981 |
21 |
A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen.
25
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Gale DP...Neild GH
|
27190376 |
2016 |
22 |
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
25
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Meuwissen ME...Mancini GM
|
25719457 |
2015 |
23 |
COL4A1 gene mutation--beyond a vascular syndrome.
25
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John S...Uchino K
|
26362372 |
2015 |
24 |
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
25
|
Ayrignac X...Labauge P
|
25527826 |
2015 |
25 |
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
25
|
Chassaing N...Calvas P
|
24033328 |
2014 |
26 |
A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family.
25
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Xia XY...Xue CY
|
25124159 |
2014 |
27 |
COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy.
25
|
Gunda B...Tournier-Lasserve E
|
24390199 |
2014 |
28 |
COL4A2 mutation associated with familial porencephaly and small-vessel disease.
25
|
Verbeek E...Mancini GM
|
22333902 |
2012 |
29 |
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
25
|
Jeanne M...Gould DB
|
22209247 |
2012 |
30 |
De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.
25
|
Yoneda Y...Saitsu H
|
22209246 |
2012 |
31 |
COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
25
|
Livingston J...Crow Y
|
22134833 |
2011 |
32 |
A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.
25
|
Shah S...Jardine P
|
19477666 |
2010 |
33 |
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.
25
|
Alamowitch S...Ronco P
|
19949034 |
2009 |
34 |
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
25
|
Richards A...Atkinson JP
|
17660820 |
2007 |
35 |
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.
25
|
Vahedi K...Bousser MG
|
17379824 |
2007 |
36 |
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.
25
|
van der Knaap MS...Heutink P
|
16374828 |
2006 |
37 |
Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.
25
|
Ophoff RA...Frants RR
|
11438888 |
2001 |
38 |
Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).
25
|
Jen J...Baloh RW
|
9371916 |
1997 |
39 |
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.
25
|
Joutel A...Tournier-Lasserve E
|
8878478 |
1996 |
40 |
A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant.
61
|
Sabir AH...Lim D
|
33491999 |
2021 |
41 |
Expanding the phenotype of COL4A1-related disorders-Four novel variants.
61
|
Nishimura N...Kurosawa K
|
32565002 |
2020 |
42 |
Life-threatening muscle complications of COL4A1-related disorder.
61
|
Okano S...Azuma H
|
31540749 |
2020 |
43 |
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
61
|
Kitzler TM...Hildebrandt F
|
31230195 |
2019 |
44 |
Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review.
61
|
Ayrignac X...Labauge P
|
28628708 |
2017 |
45 |
Severe Hemolytic Jaundice in a Neonate with a Novel COL4A1 Mutation.
61
|
Tomotaki S...Hata D
|
24861536 |
2016 |
46 |
HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease.
61
|
Chen Z...Plaisier E
|
26260163 |
2016 |
47 |
Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
61
|
Giorgio E...Brussino A
|
25873210 |
2015 |
48 |
Review: molecular genetics and pathology of hereditary small vessel diseases of the brain.
61
|
Yamamoto Y...Kalaria RN
|
21062344 |
2011 |
49 |
COL4A1-Related Disorders
61
|
Plaisier E...Ronco P
|
20301768 |
2009 |