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Journal Abstract Search

322 related items for PubMed ID: 19533689

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  • 8. First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.
    Rejeb I, Jilani H, Elaribi Y, Hizem S, Hila L, Zillahrdt JL, Chelly J, Benjemaa L.
    BMC Med Genet; 2017 Nov 17; 18(1):134. PubMed ID: 29149870
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  • 9. High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
    Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F.
    Eur J Hum Genet; 2010 Oct 17; 18(10):1133-40. PubMed ID: 20461111
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  • 10. Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.
    Hennies HC, Rauch A, Seifert W, Schumi C, Moser E, Al-Taji E, Tariverdian G, Chrzanowska KH, Krajewska-Walasek M, Rajab A, Giugliani R, Neumann TE, Eckl KM, Karbasiyan M, Reis A, Horn D.
    Am J Hum Genet; 2004 Jul 17; 75(1):138-45. PubMed ID: 15154116
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  • 13. COH1 analysis and linkage study in two Japanese families with Cohen syndrome.
    Kondo I, Shimizu A, Asakawa S, Miyamoto K, Yamagata H, Tabara Y, Shimizu N.
    Clin Genet; 2005 Mar 17; 67(3):270-2. PubMed ID: 15691367
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  • 15. Clinical and mutational spectrum of Mowat-Wilson syndrome.
    Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A.
    Eur J Med Genet; 2005 Mar 17; 48(2):97-111. PubMed ID: 16053902
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  • 16. A novel VPS13B mutation in Cohen syndrome: a case report and review of literature.
    Momtazmanesh S, Rayzan E, Shahkarami S, Rohlfs M, Klein C, Rezaei N.
    BMC Med Genet; 2020 Jun 30; 21(1):140. PubMed ID: 32605629
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  • 17. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 30; 56(3):105-52. PubMed ID: 19728970
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  • 18. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
    Martínez-Garay I, Tomás M, Oltra S, Ramser J, Moltó MD, Prieto F, Meindl A, Kutsche K, Martínez F.
    Eur J Hum Genet; 2007 Jan 30; 15(1):29-34. PubMed ID: 17033686
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  • 19. Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.
    Kumar RA, Everman DB, Morgan CT, Slavotinek A, Schwartz CE, Simpson EM.
    BMC Med Genet; 2007 Jul 26; 8():48. PubMed ID: 17655765
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  • 20. Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.
    Horn D, Krebsová A, Kunze J, Reis A.
    Am J Med Genet; 2000 Jun 05; 92(4):285-92. PubMed ID: 10842298
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