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.
150 related articles for article (PubMed ID: 12707952)
1. Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. Kliemann SE; Waetge RT; Suzuki OT; Passos-Bueno MR; Rosemberg S Am J Med Genet A; 2003 May; 119A(1):15-9. PubMed ID: 12707952 [TBL] [Abstract][Full Text] [Related]
2. Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Menzel O; Bekkeheien RC; Reymond A; Fukai N; Boye E; Kosztolanyi G; Aftimos S; Deutsch S; Scott HS; Olsen BR; Antonarakis SE; Guipponi M Hum Mutat; 2004 Jan; 23(1):77-84. PubMed ID: 14695535 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. Mutations in collagen 18A1 and their relevance to the human phenotype. Passos-Bueno MR; Suzuki OT; Armelin-Correa LM; Sertié AL; Errera FI; Bagatini K; Kok F; Leite KR An Acad Bras Cienc; 2006 Mar; 78(1):123-31. PubMed ID: 16532212 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye. Duh EJ; Yao YG; Dagli M; Goldberg MF Ophthalmology; 2004 Oct; 111(10):1885-8. PubMed ID: 15465551 [TBL] [Abstract][Full Text] [Related]
11. A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. Sertié AL; Quimby M; Moreira ES; Murray J; Zatz M; Antonarakis SE; Passos-Bueno MR Hum Mol Genet; 1996 Jun; 5(6):843-7. PubMed ID: 8776601 [TBL] [Abstract][Full Text] [Related]
12. Variable phenotype of Knobloch syndrome due to biallelic Levinger N; Hendler K; Banin E; Hanany M; Kimchi A; Mechoulam H; Meiner V; Parag Y; Sharon D; Macarov M; Yahalom C Eur J Ophthalmol; 2021 Nov; 31(6):3349-3354. PubMed ID: 33238767 [TBL] [Abstract][Full Text] [Related]
13. Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. Mahajan VB; Olney AH; Garrett P; Chary A; Dragan E; Lerner G; Murray J; Bassuk AG Am J Med Genet A; 2010 Nov; 152A(11):2875-9. PubMed ID: 20799329 [TBL] [Abstract][Full Text] [Related]
14. Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance. Passos-Bueno MR; Marie SK; Monteiro M; Neustein I; Whittle MR; Vainzof M; Zatz M Am J Med Genet; 1994 Aug; 52(2):170-3. PubMed ID: 7802003 [TBL] [Abstract][Full Text] [Related]
15. Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome. Seaver LH; Joffe L; Spark RP; Smith BL; Hoyme HE Am J Med Genet; 1993 Apr; 46(2):203-8. PubMed ID: 8484411 [TBL] [Abstract][Full Text] [Related]
16. Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings. Irene Díez García-Prieto I; Lopez-Martín S; Albert J; Jiménez de la Peña M; Fernández-Mayoralas DM; Calleja-Pérez B; Gómez Fernández MT; Álvarez S; Pihlajaniemi T; Izzi V; Fernández-Jaén A Neurocase; 2022 Feb; 28(1):11-18. PubMed ID: 35253627 [TBL] [Abstract][Full Text] [Related]
17. Cataract surgery in Knobloch syndrome: a case report. Bongiovanni CS; Ferreira CC; Rodrigues AP; Fortes Filho JB; Tartarella MB Clin Ophthalmol; 2011; 5():735-7. PubMed ID: 21691582 [TBL] [Abstract][Full Text] [Related]
18. [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]
19. Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2. Khaliq S; Abid A; White DR; Johnson CA; Ismail M; Khan A; Ayub Q; Sultana S; Maher ER; Mehdi SQ Am J Med Genet A; 2007 Dec; 143A(23):2768-74. PubMed ID: 17975799 [TBL] [Abstract][Full Text] [Related]
20. No evidence for locus heterogeneity in Knobloch syndrome. Aldahmesh MA; Khan AO; Mohamed JY; Levin AV; Wuthisiri W; Lynch S; McCreery K; Alkuraya FS J Med Genet; 2013 Aug; 50(8):565-6. PubMed ID: 23667181 [No Abstract] [Full Text] [Related] [Next] [New Search]