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Journal Abstract Search

135 related items for PubMed ID: 24326960

  • 1. GAPO syndrome with deafness: new feature or incidental finding?
    Aggarwal S, Uttarilli A, Dalal AB.
    Clin Dysmorphol; 2013 Oct; 22(4):161-163. PubMed ID: 24326960
    [No Abstract] [Full Text] [Related]

  • 2. GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.
    Abdel-Hamid MS, Ismail S, Zaki MS, Abdel-Salam GMH, Otaify GA, Issa MY, Abdel-Kader M, Girgis M, Aboul-Ezz E, Mazen I, Aglan MS, Temtamy SA.
    Am J Med Genet A; 2019 Feb; 179(2):237-242. PubMed ID: 30575274
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  • 3. Mutations in ANTXR1 cause GAPO syndrome.
    Stránecký V, Hoischen A, Hartmannová H, Zaki MS, Chaudhary A, Zudaire E, Nosková L, Barešová V, Přistoupilová A, Hodaňová K, Sovová J, Hůlková H, Piherová L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martásek P, Baxová A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S.
    Am J Hum Genet; 2013 May 02; 92(5):792-9. PubMed ID: 23602711
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  • 4. Arterial and venous thrombosis of the cerebral vasculature in GAPO syndrome.
    Zeydan B, Benbir G, Uluduz D, Ince B, Goksan B, Islak C.
    Am J Med Genet A; 2014 May 02; 164A(5):1284-8. PubMed ID: 24664815
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  • 5. GAPO Syndrome-A Rare Cause of Osteomyelitis of Jaws; Report of 4 Cases With a Brief Review of the Literature.
    Puranik RS, Puranik SR, Hallur N, Venkatesh D.
    J Oral Maxillofac Surg; 2018 Jun 02; 76(6):1216-1225. PubMed ID: 29304326
    [Abstract] [Full Text] [Related]

  • 6. GAPO syndrome: a new syndromic cause of premature ovarian insufficiency.
    Benetti-Pinto CL, Ferreira V, Andrade L, Yela DA, De Mello MP.
    Climacteric; 2016 Dec 02; 19(6):594-598. PubMed ID: 27426988
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2.
    Smigiel R, Rozensztrauch A, Walczak A, Rydzanicz M, Stawinski P, Berghausen-Mazur M, Kostrzewa G, Sasiadek M, Ploski R.
    Clin Dysmorphol; 2019 Oct 28; 28(4):211-214. PubMed ID: 31425299
    [No Abstract] [Full Text] [Related]

  • 9. 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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  • 11. 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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  • 12. [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 28; 36(4):373-8. PubMed ID: 3065457
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  • 16. GAPO syndrome associated with vestibular dysfunction and hearing loss.
    Rapsomaniki M, Chiarella G, Mascaro I, Ceravolo F, Cassandro E, Strisciuglio P, Concolino D.
    Am J Med Genet A; 2013 Aug 28; 161A(8):2102-4. PubMed ID: 23794220
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