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Journal Abstract Search

398 related items for PubMed ID: 29681106

  • 1. Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.
    Ivanovski I, Akbaroghli S, Pollazzon M, Gelmini C, Caraffi SG, Mansouri M, Chavoshzadeh Z, Rosato S, Polizzi V, Gargano G, Alders M, Garavelli L, Hennekam RC.
    Am J Med Genet A; 2018 May; 176(5):1166-1174. PubMed ID: 29681106
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  • 2. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
    Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC.
    Hum Genet; 2014 Sep; 133(9):1161-7. PubMed ID: 24913602
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  • 3. A newborn diagnosed with van Maldergem syndrome.
    Ulubas Isik D, Unal S, Erol S, Arslan Z, Bas AY, Demirel N.
    Clin Dysmorphol; 2018 Apr; 27(2):63-65. PubMed ID: 29505454
    [No Abstract] [Full Text] [Related]

  • 4. A further patient with van Maldergem syndrome.
    Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N.
    Eur J Med Genet; 2012 Jun; 55(6-7):423-8. PubMed ID: 22469822
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  • 7. Middle ear abnormalities in Van Maldergem syndrome.
    Verheij E, Thomeer HG, Pameijer FA, Topsakal V.
    Am J Med Genet A; 2017 Jan; 173(1):239-244. PubMed ID: 27739185
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  • 13. A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.
    Jackson CC, Best L, Lorenzo L, Casanova JL, Wacker J, Bertz S, Agaimy A, Harrer T.
    J Clin Immunol; 2016 Jan; 36(1):19-27. PubMed ID: 26686525
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  • 14. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
    Bramswig NC, Lüdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guillén-Navarro E, Kiper PÖ, López-González V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D.
    Hum Genet; 2015 Jun; 134(6):553-68. PubMed ID: 25724810
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  • 15. Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.
    Crawford J, Bower NI, Hogan BM, Taft RJ, Gabbett MT, McGaughran J, Simons C.
    Am J Med Genet A; 2016 Oct; 170(10):2694-7. PubMed ID: 27345729
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  • 16. Terminal 2q37 deletion and autistic behaviour.
    Lukusa T, Smeets E, Vogels A, Vermeesch JR, Fryns JP.
    Genet Couns; 2005 Oct; 16(2):179-80. PubMed ID: 16080299
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  • 17. Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.
    Bayat A, Fijalkowski I, Andersen T, Abdulmunem SA, van den Ende J, Van Hul W.
    Am J Med Genet A; 2016 Jun; 170(6):1479-84. PubMed ID: 26994744
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  • 18. Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
    Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, Szemes T.
    Clin Genet; 2017 Feb; 91(2):339-343. PubMed ID: 27452416
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