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Journal Abstract Search

259 related items for PubMed ID: 18484314

  • 1. 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
    [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
    [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
    [Abstract] [Full Text] [Related]

  • 4. 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 15; 52(2):170-3. PubMed ID: 7802003
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 41(1):83-87. PubMed ID: 32178553
    [Abstract] [Full Text] [Related]

  • 6. 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 15; 111(10):1885-8. PubMed ID: 15465551
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 15; 46(2):203-8. PubMed ID: 8484411
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 78(1):123-31. PubMed ID: 16532212
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 152A(11):2875-9. PubMed ID: 20799329
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 143A(23):2768-74. PubMed ID: 17975799
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies.
    Wilson C, Aftimos S, Pereira A, McKay R.
    Am J Med Genet; 1998 Jul 07; 78(3):286-90. PubMed ID: 9677068
    [Abstract] [Full Text] [Related]

  • 14. Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.
    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 07; 31(6):3349-3354. PubMed ID: 33238767
    [Abstract] [Full Text] [Related]

  • 15. The second report of Knobloch syndrome.
    Czeizel AE, Göblyös P, Kustos G, Mester E, Paraicz E.
    Am J Med Genet; 1992 Apr 01; 42(6):777-9. PubMed ID: 1554013
    [Abstract] [Full Text] [Related]

  • 16. Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.
    Suzuki OT, Sertié AL, Der Kaloustian VM, Kok F, Carpenter M, Murray J, Czeizel AE, Kliemann SE, Rosemberg S, Monteiro M, Olsen BR, Passos-Bueno MR.
    Am J Hum Genet; 2002 Dec 01; 71(6):1320-9. PubMed ID: 12415512
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Physiological role of collagen XVIII and endostatin.
    Marneros AG, Olsen BR.
    FASEB J; 2005 May 15; 19(7):716-28. PubMed ID: 15857886
    [Abstract] [Full Text] [Related]

  • 19. Generation of an induced pluripotent stem cell line (ZSZOCi001-A) from a patient with Knobloch syndrome caused by biallelic mutations in the gene COL18A1.
    Jiang Z, Sun W, Zhang Q, Wang P.
    Stem Cell Res; 2023 Aug 15; 70():103131. PubMed ID: 37269665
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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