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Journal Abstract Search

364 related items for PubMed ID: 28694206

  • 1. Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature.
    Zrhidri A, Jaouad IC, Lyahyai J, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A.
    Gene; 2017 Sep 10; 628():190-193. PubMed ID: 28694206
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  • 2. The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome.
    Massadeh S, Alhabshan F, AlSudairi HN, Alkwai S, Alsuwailm M, Kabbani MS, Chaikhouni F, Alaamery M.
    Genes (Basel); 2022 Jan 27; 13(2):. PubMed ID: 35205281
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  • 5. A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congenital Glaucoma.
    Ratukondla B, Prakash S, Reddy S, Puthuran GV, Kannan NB, Pillai MR.
    J Glaucoma; 2020 Mar 27; 29(3):236-238. PubMed ID: 31809395
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  • 8. Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome.
    Türkyilmaz A, Sager SG, Topcu B, Kaplan AT, Günbey HP, Akin Y.
    Clin Dysmorphol; 2022 Jan 01; 31(1):45-49. PubMed ID: 34538861
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  • 9. Whole exome sequencing enables the correct diagnosis of Frank-Ter Haar syndrome in a Saudi family.
    Khan YN, Mahmud MIAM, Othman N, Radzuan HM, Basit S.
    Vavilovskii Zhurnal Genet Selektsii; 2024 Jun 01; 28(3):326-331. PubMed ID: 38952703
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  • 14. A Novel Cell-Based Model for a Rare Disease: The Tks4-KO Human Embryonic Stem Cell Line as a Frank-Ter Haar Syndrome Model System.
    László L, Maczelka H, Takács T, Kurilla A, Tilajka Á, Buday L, Vas V, Apáti Á.
    Int J Mol Sci; 2022 Aug 08; 23(15):. PubMed ID: 35955935
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  • 15. Frank-ter Haar syndrome protein Tks4 regulates epidermal growth factor-dependent cell migration.
    Bögel G, Gujdár A, Geiszt M, Lányi Á, Fekete A, Sipeki S, Downward J, Buday L.
    J Biol Chem; 2012 Sep 07; 287(37):31321-9. PubMed ID: 22829589
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  • 16. Frank-Ter Haar syndrome in a newborn.
    Femitha P, Joy R, Gane BD, Adhisivam B, Bhat BV.
    Indian J Pediatr; 2012 Aug 07; 79(8):1091-3. PubMed ID: 22037860
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  • 17. Accumulation of the PX domain mutant Frank-ter Haar syndrome protein Tks4 in aggresomes.
    Ádám C, Fekete A, Bőgel G, Németh Z, Tőkési N, Ovádi J, Liliom K, Pesti S, Geiszt M, Buday L.
    Cell Commun Signal; 2015 Jul 17; 13():33. PubMed ID: 26183326
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  • 18. Common dental features and craniofacial development of three siblings with Ter Haar syndrome.
    Parker K, Pabla R, Hay N, Ayliffe P.
    Eur Arch Paediatr Dent; 2014 Feb 17; 15(1):59-64. PubMed ID: 24085649
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  • 19. Retinal detachment in a child with Frank-ter Haar syndrome.
    Furundaoturan O, Esen Baris M, Ayyıldız Emecen D, Demirkilinc Biler E.
    Ophthalmic Genet; 2023 Jun 17; 44(3):291-294. PubMed ID: 36004685
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  • 20. Frank-ter Haar syndrome with unusual clinical features.
    Dundar M, Saatci C, Tasdemir S, Akcakus M, Caglayan AO, Ozkul Y.
    Eur J Med Genet; 2009 Jun 17; 52(4):247-9. PubMed ID: 19303467
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