| 1 |
Knobloch syndrome caused by homozygous frameshift mutation of the <i>COL18A1</i> gene in a Chinese pedigree. ( 29977801
)
|
Zhang L.S....Ding C.
|
2018 |
| 2 |
Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1. ( 28950998
)
|
Charsar B.A....Goldberg E.M.
|
2017 |
| 3 |
Optical coherence tomography findings and successful repair of retina detachment in Knobloch syndrome. ( 28924418
)
|
Ebrahimiadib N....Vavvas D.G.
|
2017 |
| 4 |
Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports. ( 29178892
)
|
White R.J....Montezuma S.R.
|
2017 |
| 5 |
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. ( 28144890
)
|
Gradstein L....Fulton A.B.
|
2017 |
| 6 |
Biometry, optical coherence tomography, and further clinical observations in Knobloch syndrome. ( 27088344
)
|
AlBakri A....Khan A.O.
|
2016 |
| 7 |
Molecular and Clinical Findings in Patients With Knobloch Syndrome. ( 27259167
)
|
Hull S....Moore A.T.
|
2016 |
| 8 |
Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. ( 25456301
)
|
Caglayan A.O....Gunel M.
|
2014 |
| 9 |
Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome. ( 25392994
)
|
Haghighi A....Berger W.
|
2014 |
| 10 |
No evidence for locus heterogeneity in Knobloch syndrome. ( 23667181
)
|
Aldahmesh M.A....Alkuraya F.S.
|
2013 |
| 11 |
The distinct ophthalmic phenotype of Knobloch syndrome in children. ( 22399687
)
|
Khan A.O....Alkuraya F.S.
|
2012 |
| 12 |
Cataract surgery in Knobloch syndrome: a case report. ( 21691582
)
|
Bongiovanni C.S....Tartarella M.B.
|
2011 |
| 13 |
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. ( 21862674
)
|
Aldahmesh M.A....Alkuraya F.S.
|
2011 |
| 14 |
Locus heterogeneity and Knobloch syndrome. ( 20979194
)
|
Joyce S....Maher E.R.
|
2010 |
| 15 |
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. ( 20799329
)
|
Mahajan V.B....Bassuk A.G.
|
2010 |
| 16 |
Knobloch syndrome: novel intra-oral findings. ( 18445000
)
|
O'Connell A.C....Murphy S.
|
2009 |
| 17 |
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome. ( 19390655
)
|
Suzuki O....Passos-Bueno M.R.
|
2009 |
| 18 |
A phenotypic variant of Knobloch syndrome. ( 18484314
)
|
Williams T.A....Ainsworth J.R.
|
2008 |
| 19 |
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. ( 17546652
)
|
Keren B....Verloes A.
|
2007 |
| 20 |
Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2. ( 17975799
)
|
Khaliq S....Mehdi S.Q.
|
2007 |
| 21 |
How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? ( 15714516
)
|
Suzuki O.T....Passos-Bueno M.R.
|
2005 |
| 22 |
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. ( 14695535
)
|
Menzel O....Guipponi M.
|
2004 |
| 23 |
Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye. ( 15465551
)
|
Duh E.J....Goldberg M.F.
|
2004 |
| 24 |
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. ( 12707952
)
|
Kliemann S.E....Rosemberg S.
|
2003 |
| 25 |
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. ( 12415512
)
|
Suzuki O.T....Passos-Bueno M.R.
|
2002 |
| 26 |
Knobloch syndrome involving midline scalp defect of the frontal region. ( 10607954
)
|
Sniderman L.C....Der Kaloustian V.M.
|
2000 |
| 27 |
Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies. ( 9677068
)
|
Wilson C....McKay R.
|
1998 |
| 28 |
A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. ( 8776601
)
|
SertiAc A.L....Passos-Bueno M.R.
|
1996 |
| 29 |
Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance. ( 7802003
)
|
Passos-Bueno M.R....Zatz M.
|
1994 |
| 30 |
Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome. ( 8484411
)
|
Seaver L.H....Hoyme H.E.
|
1993 |
| 31 |
The second report of Knobloch syndrome. ( 1554013
)
|
Czeizel A.E....Paraicz E.
|
1992 |
