These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
116 related articles for article (PubMed ID: 29178892)
1. Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports. White RJ; Wang Y; Tang P; Montezuma SR BMC Ophthalmol; 2017 Nov; 17(1):214. PubMed ID: 29178892 [TBL] [Abstract][Full Text] [Related]
2. Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1. Charsar BA; Goldberg EM Pediatr Neurol; 2017 Nov; 76():91-92. PubMed ID: 28950998 [No Abstract] [Full Text] [Related]
3. Knobloch syndrome in a patient from Chile. Nakousi-Capurro N; Huserman J; Castillo S; Herrera L; Romero P; Pizarro F; Quezada C; Cea F Am J Med Genet A; 2020 Oct; 182(10):2239-2242. PubMed ID: 32700429 [TBL] [Abstract][Full Text] [Related]
4. Knobloch Syndrome, a Rare Cause of Occipital Encephalocele and Seizures: A Case Report. Venkateshappa BM; Raju B; Rallo MS; Jumah F; Suresh SC; Gupta G; Nanda A Pediatr Neurosurg; 2021; 56(3):274-278. PubMed ID: 33789317 [TBL] [Abstract][Full Text] [Related]
5. Molecular and Clinical Findings in Patients With Knobloch Syndrome. Hull S; Arno G; Ku CA; Ge Z; Waseem N; Chandra A; Webster AR; Robson AG; Michaelides M; Weleber RG; Davagnanam I; Chen R; Holder GE; Pennesi ME; Moore AT JAMA Ophthalmol; 2016 Jul; 134(7):753-62. PubMed ID: 27259167 [TBL] [Abstract][Full Text] [Related]
6. Retinal Detachment After Cyclophotocoagulation in a Child with Knobloch Syndrome. Al-Beshri AS; Kozak I; Craven ER Middle East Afr J Ophthalmol; 2018; 25(3-4):161-162. PubMed ID: 30765955 [TBL] [Abstract][Full Text] [Related]
7. Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. Caglayan AO; Baranoski JF; Aktar F; Han W; Tuysuz B; Guzel A; Guclu B; Kaymakcalan H; Aktekin B; Akgumus GT; Murray PB; Erson-Omay EZ; Caglar C; Bakircioglu M; Sakalar YB; Guzel E; Demir N; Tuncer O; Senturk S; Ekici B; Minja FJ; Šestan N; Yasuno K; Bilguvar K; Caksen H; Gunel M Pediatr Neurol; 2014 Dec; 51(6):806-813.e8. PubMed ID: 25456301 [TBL] [Abstract][Full Text] [Related]
8. Optical Coherence Tomography in Knobloch Syndrome. Thau A; Tsukikawa M; Wangtiraumnuay N; Capasso J; Affel E; Alnabi WA; Adam M; Alsulaiman SM; Spirn M; Levin AV Ophthalmic Surg Lasers Imaging Retina; 2019 Aug; 50(8):e203-e210. PubMed ID: 31415705 [TBL] [Abstract][Full Text] [Related]
9. Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. Corbett MA; Turner SJ; Gardner A; Silver J; Stankovich J; Leventer RJ; Derry CP; Carroll R; Ha T; Scheffer IE; Bahlo M; Jackson GD; Mackey DA; Berkovic SF; Gecz J Eur J Med Genet; 2017 Aug; 60(8):437-443. PubMed ID: 28602933 [TBL] [Abstract][Full Text] [Related]
10. Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic Patil SJ; Pande S; Matalia J; Bhat V; Kekatpure M; Girisha KM J Pediatr Genet; 2023 Mar; 12(1):58-63. PubMed ID: 36684549 [TBL] [Abstract][Full Text] [Related]
11. Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. Gradstein L; Hansen RM; Cox GF; Altschwager P; Fulton AB Doc Ophthalmol; 2017 Apr; 134(2):135-140. PubMed ID: 28144890 [TBL] [Abstract][Full Text] [Related]
12. Knobloch Syndrome Associated with Novel Li S; Wang Y; Sun L; Yan W; Huang L; Zhang Z; Zhang T; Ding X Genes (Basel); 2021 Sep; 12(10):. PubMed ID: 34680907 [TBL] [Abstract][Full Text] [Related]
13. Three cases of molecularly confirmed Knobloch syndrome. Balikova I; Sanak NS; Fanny D; Smits G; Soblet J; de Baere E; Cordonnier M Ophthalmic Genet; 2020 Feb; 41(1):83-87. PubMed ID: 32178553 [No Abstract] [Full Text] [Related]
17. Case Report: Novel Biallelic Variants in the Chong SC; Yuen YP; Cao Y; Fan SS; Leung TY; Chan EKY; Zhu XL Front Neurol; 2022; 13():853918. PubMed ID: 35693012 [TBL] [Abstract][Full Text] [Related]
18. Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. Aldahmesh MA; Khan AO; Mohamed JY; Alkuraya H; Ahmed H; Bobis S; Al-Mesfer S; Alkuraya FS J Med Genet; 2011 Sep; 48(9):597-601. PubMed ID: 21862674 [TBL] [Abstract][Full Text] [Related]
19. [Knobloch syndrome: a case report]. Liu QY; Cui XH; Li Z; Shao Y; Xing DJ; Li WB; Li XR Zhonghua Yan Ke Za Zhi; 2022 Jun; 58(6):457-459. PubMed ID: 35692029 [TBL] [Abstract][Full Text] [Related]
20. A phenotypic variant of Knobloch syndrome. Williams TA; Kirkby GR; Williams D; Ainsworth JR Ophthalmic Genet; 2008 Jun; 29(2):85-6. PubMed ID: 18484314 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]