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Journal Abstract Search

148 related items for PubMed ID: 18470892

  • 1. GAPO syndrome: three new Brazilian cases, additional osseous manifestations, and review of the literature.
    Goloni-Bertollo EM, Ruiz MT, Goloni CB, Muniz MP, Valério NI, Pavarino-Bertelli EC.
    Am J Med Genet A; 2008 Jun 15; 146A(12):1523-9. PubMed ID: 18470892
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  • 2. Ophthalmic aspects of GAPO syndrome: case report and review.
    Rim PH, Marques-de-Faria AP.
    Ophthalmic Genet; 2005 Sep 15; 26(3):143-7. PubMed ID: 16272061
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  • 3. Ophthalmic findings in GAPO syndrome.
    Ilker SS, Oztürk F, Kurt E, Temel M, Gül D, Sayli BS.
    Jpn J Ophthalmol; 1999 Sep 15; 43(1):48-52. PubMed ID: 10197743
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  • 4. GAPO syndrome: a new case.
    Sandgren G.
    Am J Med Genet; 1995 Jul 31; 58(1):87-90. PubMed ID: 7573163
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  • 5. GAPO syndrome: a new case of this rare syndrome and a review of the relative importance of different phenotypic features in diagnosis.
    Bacon W, Hall RK, Roset JP, Boukari A, Tenenbaum H, Walter B.
    J Craniofac Genet Dev Biol; 1999 Jul 31; 19(4):189-200. PubMed ID: 10731088
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  • 6. [The GAPO syndrome (growth retardation, alopecia, pseudo-anodontia, optic atrophy). A new case report].
    Manouvrier-Hanu S, Largillière C, Farriaux JP.
    J Genet Hum; 1988 Aug 31; 36(4):373-8. PubMed ID: 3065457
    [No Abstract] [Full Text] [Related]

  • 7. GAPO syndrome: four new patients with congenital glaucoma and myelinated retinal nerve fiber layer.
    Bozkurt B, Yildirim MS, Okka M, Bitirgen G.
    Am J Med Genet A; 2013 Apr 31; 161A(4):829-34. PubMed ID: 23494824
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  • 8. GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension.
    Goyal N, Gurjar H, Sharma BS, Tripathi M, Chandra PS.
    BMJ Case Rep; 2014 Jan 28; 2014():. PubMed ID: 24473423
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  • 9. GAPO syndrome: a novel variant in ANTXR1 gene.
    Damagatla M, Verma A, Pochaboina V, Bhate M, Senthil S.
    Ophthalmic Genet; 2024 Aug 28; 45(4):395-400. PubMed ID: 38691016
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  • 15. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
    Bayram Y, Pehlivan D, Karaca E, Gambin T, Jhangiani SN, Erdin S, Gonzaga-Jauregui C, Wiszniewski W, Muzny D, Baylor-Hopkins Center for Mendelian Genomics, Elcioglu NH, Yildirim MS, Bozkurt B, Zamani AG, Boerwinkle E, Gibbs RA, Lupski JR.
    Am J Med Genet A; 2014 Sep 28; 164A(9):2328-34. PubMed ID: 25045128
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  • 17. GAPO syndrome (McKusick 23074)--a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older.
    Wajntal A, Koiffmann CP, Mendonça BB, Epps-Quaglia D, Sotto MN, Rati PB, Opitz JM.
    Am J Med Genet; 1990 Oct 28; 37(2):213-23. PubMed ID: 2248288
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  • 18. Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature.
    Tipton RE, Gorlin RJ.
    Am J Med Genet; 1984 Oct 28; 19(2):209-16. PubMed ID: 6507471
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  • 19. GAPO syndrome: report of three affected brothers.
    Gagliardi AR, González CH, Pratesi R.
    Am J Med Genet; 1984 Oct 28; 19(2):217-23. PubMed ID: 6507472
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  • 20. [Ocular manifestation in GAPO syndrome. Report of the first tunisian case].
    Touzri RA, Goucha S, Kriaa L, Beltaif O, Fazaa B, El Andolsi H, Kamoun MR, Ouertani A.
    J Fr Ophtalmol; 2003 Dec 28; 26(10):1067-70. PubMed ID: 14691402
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