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Journal Abstract Search

148 related items for 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 15; 119A(1):15-9. PubMed ID: 12707952
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  • 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 15; 23(1):77-84. PubMed ID: 14695535
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  • 3. A phenotypic variant of Knobloch syndrome.
    Williams TA, Kirkby GR, Williams D, Ainsworth JR.
    Ophthalmic Genet; 2008 Jun 15; 29(2):85-6. PubMed ID: 18484314
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  • 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 01; 134(7):753-62. PubMed ID: 27259167
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  • 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 01; 51(6):806-813.e8. PubMed ID: 25456301
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  • 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 01; 182(10):2239-2242. PubMed ID: 32700429
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  • 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 01; 41(1):83-87. PubMed ID: 32178553
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  • 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 01; 78(1):123-31. PubMed ID: 16532212
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  • 9. Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population.
    Li S, Wang Y, Sun L, Yan W, Huang L, Zhang Z, Zhang T, Ding X.
    Genes (Basel); 2021 Sep 26; 12(10):. PubMed ID: 34680907
    [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 26; 111(10):1885-8. PubMed ID: 15465551
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  • 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 26; 5(6):843-7. PubMed ID: 8776601
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  • 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 26; 152A(11):2875-9. PubMed ID: 20799329
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  • 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 26; 28(1):11-18. PubMed ID: 35253627
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  • 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 11; 58(6):457-459. PubMed ID: 35692029
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