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Select item 98487581.

Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review

Siddaramappa J. Patil, Shruti Pande, Jyoti Matalia, Venkatraman Bhat, Minal Kekatpure, Katta Mohan Girisha

J Pediatr Genet. 2023 Mar; 12(1): 58–63. Published online 2020 Dec 10. doi: 10.1055/s-0040-1721073

PMCID:: PMC9848758

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Select item 91782782.

Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome

Shuk Ching Chong, Yuet-Ping Yuen, Ye Cao, Sze-Shing Fan, Tak Yeung Leung, Emily K. Y. Chan, Xian Lun Zhu

Front Neurol. 2022; 13: 853918. Published online 2022 May 26. doi: 10.3389/fneur.2022.853918

PMCID:: PMC9178278

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Select item 85361913.

Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population

Songshan Li, You Wang, Limei Sun, Wenjia Yan, Li Huang, Zhaotian Zhang, Ting Zhang, Xiaoyan Ding

Genes (Basel) 2021 Oct; 12(10): 1512. Published online 2021 Sep 26. doi: 10.3390/genes12101512

PMCID:: PMC8536191

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Select item 63489394.

Retinal Detachment After Cyclophotocoagulation in a Child with Knobloch Syndrome

Ali S. Al-Beshri, Igor Kozak, Earl Randy Craven

Middle East Afr J Ophthalmol. 2018 Jul-Dec; 25(3-4): 161–162. doi: 10.4103/meajo.MEAJO_263_17

PMCID:: PMC6348939

Article

Select item 60103815.

Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree

Lu-Si Zhang, Hai-Bo Li, Jun Zeng, Yan Yang, Chun Ding

Int J Ophthalmol. 2018; 11(6): 918–922. Published online 2018 Jun 18. doi: 10.18240/ijo.2018.06.04

PMCID:: PMC6010381

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Select item 57022156.

Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports

Robert J. White, Yao Wang, Peter Tang, Sandra R. Montezuma

BMC Ophthalmol. 2017; 17: 214. Published online 2017 Nov 25. doi: 10.1186/s12886-017-0615-z

PMCID:: PMC5702215

Article PDF–996K

Select item 55969567.

Optical coherence tomography findings and successful repair of retina detachment in Knobloch syndrome

Nazanin Ebrahimiadib, Bobeck S. Modjtahedi, Kevin Ferenchak, Thanos D. Papakostas, Jason S. Mantagos, Demetrios G. Vavvas

Digit J Ophthalmol. 2017; 23(1): 29–32. Published online 2017 Mar 12. doi: 10.5693/djo.02.2017.01.002

PMCID:: PMC5596956

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Select item 50569648.

Brain Malformations Associated with Knobloch Syndrome – Review of Literature, Expanding Clinical Spectrum and Identification of Novel Mutations

Ahmet Okay Caglayan, Jacob F. Baranoski, Fesih Aktar, Wengi Han, Beyhan Tuysuz, Aslan Guzel, Bulent Guclu, Hande Kaymakcalan, Berrin Aktekin, Gozde Tugce Akgumus, Phillip B. Murray, E. Zeynep Erson Omay, Caner Caglar, Mehmet Bakircioglu, Yildirim Bayezit Sakalar, Ebru Guzel, Nihat Demir, Oguz Tuncer, Senem Senturk, Baris Ekici, Frank J. Minja, Nenad Šestan, Katsuhito Yasuno, Kaya Bilguvar, Huseyin Caksen, Murat Gunel

Pediatr Neurol. Author manuscript; available in PMC 2016 Oct 11.

Published in final edited form as: Pediatr Neurol. 2014 Dec; 51(6): 806–813.e8. Published online 2014 Sep 4. doi: 10.1016/j.pediatrneurol.2014.08.025

PMCID:: PMC5056964

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Select item 42310499.

Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

Alireza Haghighi, Amit Tiwari, Niloofar Piri, Gudrun Nürnberg, Nasrollah Saleh-Gohari, Amirreza Haghighi, John Neidhardt, Peter Nürnberg, Wolfgang Berger

PLoS One. 2014; 9(11): e112747. Published online 2014 Nov 13. doi: 10.1371/journal.pone.0112747

PMCID:: PMC4231049

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Select item 311679810.

Cataract surgery in Knobloch syndrome: a case report

Carmen Sílvia Bongiovanni, Carla Cristina Serra Ferreira, Ana Paula Silvério Rodrigues, João Borges Fortes Filho, Márcia Beatriz Tartarella

Clin Ophthalmol. 2011; 5: 735–737. Published online 2011 Jun 2. doi: 10.2147/OPTH.S18989

PMCID:: PMC3116798

Article PDF–567K

Select item 296527011.

Collagen XVIII Mutation in Knobloch Syndrome with Acute Lymphoblastic Leukemia

Vinit B. Mahajan, Ann Haskins Olney, Penny Garrett, Ajit Chary, Ecaterina Dragan, Gary Lerner, Jeffrey Murray, Alexander G. Bassuk

Am J Med Genet A. Author manuscript; available in PMC 2011 Nov 1.

Published in final edited form as: Am J Med Genet A. 2010 Nov; 152A(11): 2875–2879. doi: 10.1002/ajmg.a.33621

PMCID:: PMC2965270

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Select item 267158412.

Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome

Oscar Suzuki, Erika Kague, Kelly Bagatini, Hongmin Tu, Ritva Heljasvaara, Lorenza Carvalhaes, Elisandra Gava, Gisele de Oliveira, Paulo Godoi, Glaucius Oliva, Gregory Kitten, Taina Pihlajaniemi, Maria-Rita Passos-Bueno

Mol Vis. 2009; 15: 801–809. Published online 2009 Apr 23.

PMCID:: PMC2671584

Article PDF–2.7M

Select item 37857113.

Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome

O. T. Suzuki, A. L. Sertié, V. M. Der Kaloustian, F. Kok, M. Carpenter, J. Murray, A. E. Czeizel, S. E. Kliemann, S. Rosemberg, M. Monteiro, B. R. Olsen, M. R. Passos-Bueno

Am J Hum Genet. 2002 Dec; 71(6): 1320–1329. Published online 2002 Nov 1. doi: 10.1086/344695