1 |
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.
61
54
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Suzuki O...Passos-Bueno MR
|
19390655 |
2009 |
2 |
A phenotypic variant of Knobloch syndrome.
61
54
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Williams TA...Ainsworth JR
|
18484314 |
2008 |
3 |
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.
61
54
|
Keren B...Verloes A
|
17546652 |
2007 |
4 |
Physiological role of collagen XVIII and endostatin.
54
61
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Marneros AG...Olsen BR
|
15857886 |
2005 |
5 |
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
61
54
|
Menzel O...Guipponi M
|
14695535 |
2004 |
6 |
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority.
61
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Mayer AK...Wissinger B
|
31896775 |
2020 |
7 |
Macular Hole-Related Retinal Detachment in Children with Knobloch Syndrome.
61
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Alsulaiman SM...Mura M
|
32111543 |
2020 |
8 |
Three cases of molecularly confirmed Knobloch syndrome.
61
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Balikova I...Cordonnier M
|
32178553 |
2020 |
9 |
Optical Coherence Tomography in Knobloch Syndrome.
61
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Thau A...Levin AV
|
31415705 |
2019 |
10 |
COL18A1 is a candidate eye iridocorneal angle-closure gene in humans.
61
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Suri F...Elahi E
|
30007336 |
2018 |
11 |
Retinal Detachment After Cyclophotocoagulation in a Child with Knobloch Syndrome.
61
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Al-Beshri AS...Craven ER
|
30765955 |
2018 |
12 |
The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome.
61
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Khan AO...Ghazi NG
|
29388841 |
2018 |
13 |
Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.
61
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Zhang LS...Ding C
|
29977801 |
2018 |
14 |
Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports.
61
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White RJ...Montezuma SR
|
29178892 |
2017 |
15 |
Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1.
61
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Charsar BA...Goldberg EM
|
28950998 |
2017 |
16 |
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.
61
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Corbett MA...Gecz J
|
28602933 |
2017 |
17 |
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.
61
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Gradstein L...Fulton AB
|
28144890 |
2017 |
18 |
Biometry, optical coherence tomography, and further clinical observations in Knobloch syndrome.
61
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AlBakri A...Khan AO
|
27088344 |
2017 |
19 |
Collagen XVIII in tissue homeostasis and dysregulation - Lessons learned from model organisms and human patients.
61
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Heljasvaara R...Pihlajaniemi T
|
27746220 |
2017 |
20 |
Optical coherence tomography findings and successful repair of retina detachment in Knobloch syndrome.
61
|
Ebrahimiadib N...Vavvas DG
|
28924418 |
2017 |
21 |
Molecular and Clinical Findings in Patients With Knobloch Syndrome.
61
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Hull S...Moore AT
|
27259167 |
2016 |
22 |
Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation.
61
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Khan AO...Alkuraya FS
|
24001013 |
2015 |
23 |
Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.
61
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Caglayan AO...Gunel M
|
25456301 |
2014 |
24 |
Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.
61
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Haghighi A...Berger W
|
25392994 |
2014 |
25 |
[Paediatric retinal detachment and hereditary vitreoretinal disorders].
61
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Meier P
|
23986190 |
2013 |
26 |
No evidence for locus heterogeneity in Knobloch syndrome.
61
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Aldahmesh MA...Alkuraya FS
|
23667181 |
2013 |
27 |
Drosophila type XV/XVIII collagen mutants manifest integrin mediated mitochondrial dysfunction, which is improved by cyclosporin A and losartan.
61
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Momota R...Ohtsuka A
|
23454281 |
2013 |
28 |
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.
61
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Peluso I...Banfi S
|
23356391 |
2013 |
29 |
The distinct ophthalmic phenotype of Knobloch syndrome in children.
61
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Khan AO...Alkuraya FS
|
22399687 |
2012 |
30 |
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.
61
|
Aldahmesh MA...Alkuraya FS
|
21862674 |
2011 |
31 |
The multiple functions of collagen XVIII in development and disease.
61
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Seppinen L...Pihlajaniemi T
|
21163348 |
2011 |
32 |
Cataract surgery in Knobloch syndrome: a case report.
61
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Bongiovanni CS...Tartarella MB
|
21691582 |
2011 |
33 |
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.
61
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Mahajan VB...Bassuk AG
|
20799329 |
2010 |
34 |
Locus heterogeneity and Knobloch syndrome.
61
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Joyce S...Maher ER
|
20979194 |
2010 |
35 |
Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans.
61
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Bishop JR...Moulton KS
|
21085708 |
2010 |
36 |
Characterization of drCol 15a1b: a novel component of the stem cell niche in the zebrafish retina.
61
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Gonzalez-Nunez V...Budd A
|
20549708 |
2010 |
37 |
Functionally conserved cis-regulatory elements of COL18A1 identified through zebrafish transgenesis.
61
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Kague E...Fisher S
|
19895802 |
2010 |
38 |
Unexpected matrix diseases and novel therapeutic strategies.
61
|
Nicolae C...Olsen BR
|
19813027 |
2010 |
39 |
Knobloch syndrome: novel intra-oral findings.
61
|
O'Connell AC...Murphy S
|
18445000 |
2009 |
40 |
Syndromes, disorders and maternal risk factors associated with neural tube defects (V).
61
|
Chen CP
|
18935987 |
2008 |
41 |
Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.
61
|
Khaliq S...Mehdi SQ
|
17975799 |
2007 |
42 |
Mutations in collagen 18A1 and their relevance to the human phenotype.
61
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Passos-Bueno MR...Leite KR
|
16532212 |
2006 |
43 |
Endostatin phenylalanines 31 and 34 define a receptor binding site.
61
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Stahl S...Felbor U
|
16115201 |
2005 |
44 |
How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?
61
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Suzuki OT...Passos-Bueno MR
|
15714516 |
2005 |
45 |
Non-heparan sulfate-binding interactions of endostatin/collagen XVIII in murine development.
61
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Rychkova N...Felbor U
|
15614762 |
2005 |
46 |
Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye.
61
|
Duh EJ...Goldberg MF
|
15465551 |
2004 |
47 |
Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line.
61
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Utriainen A...Pihlajaniemi T
|
15254016 |
2004 |
48 |
Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy.
61
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Sarra GM...Hergersberg M
|
12912687 |
2003 |
49 |
Age-dependent iris abnormalities in collagen XVIII/endostatin deficient mice with similarities to human pigment dispersion syndrome.
61
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Marneros AG...Olsen BR
|
12766032 |
2003 |
50 |
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families.
61
|
Kliemann SE...Rosemberg S
|
12707952 |
2003 |