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Journal Abstract Search

274 related items for PubMed ID: 28289185

  • 41. Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.
    Johnston JJ, Lee C, Wentzensen IM, Parisi MA, Crenshaw MM, Sapp JC, Gross JM, Wallingford JB, Biesecker LG.
    Cold Spring Harb Mol Case Stud; 2017 Jul; 3(4):. PubMed ID: 28679688
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  • 44. The molecular basis of oral-facial-digital syndrome, type 1.
    Macca M, Franco B.
    Am J Med Genet C Semin Med Genet; 2009 Nov 15; 151C(4):318-25. PubMed ID: 19876934
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  • 45. Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.
    Rakkolainen A, Ala-Mello S, Kristo P, Orpana A, Järvelä I.
    J Med Genet; 2002 Apr 15; 39(4):292-6. PubMed ID: 11950863
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  • 47. Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): report of a transitional type.
    Hayes LL, Simoneaux SF, Palasis S, Niyazov DM.
    Pediatr Radiol; 2008 Sep 15; 38(9):994-8. PubMed ID: 18478222
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  • 48. Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome.
    Zhang R, Chen S, Han P, Chen F, Kuang S, Meng Z, Liu J, Sun R, Wang Z, He X, Li Y, Guan Y, Yue Z, Li C, Kumar Dey S, Zhu Y, Banerjee S.
    J Cell Mol Med; 2020 Jan 15; 24(2):1906-1916. PubMed ID: 31840411
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  • 50. Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.
    Bouman A, Alders M, Oostra RJ, van Leeuwen E, Thuijs N, van der Kevie-Kersemaekers AM, van Maarle M.
    Am J Med Genet A; 2017 May 15; 173(5):1383-1389. PubMed ID: 28371265
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  • 52. [Familial case of oral-facial-digital syndrome type 1 (OFD 1)].
    Miklaszewska M, Zachwieja K, Herman-Sucharska I, Drozdz D, Fijak-Moskal J, Gergont A, Kowalska-Duplaga K, Cieszkowska M, Pacia-Medrek B, Pietrzyk JA.
    Przegl Lek; 2014 May 15; 71(2):110-4. PubMed ID: 25016787
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  • 54. Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.
    Bruechle NO, Steuernagel P, Zerres K, Kurth I, Eggermann T, Knopp C.
    Pediatr Nephrol; 2017 Oct 15; 32(10):1989-1992. PubMed ID: 28620746
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  • 56. Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).
    Monroe GR, Kappen IF, Stokman MF, Terhal PA, van den Boogaard MH, Savelberg SM, van der Veken LT, van Es RJ, Lens SM, Hengeveld RC, Creton MA, Janssen NG, Mink van der Molen AB, Ebbeling MB, Giles RH, Knoers NV, van Haaften G.
    Eur J Hum Genet; 2016 Dec 15; 24(12):1752-1760. PubMed ID: 27530628
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  • 57. [Orofaciodigital syndrome associated with agenesis of the pituitary gland].
    Buño M, Pozo J, Muñoz MT, Espejo M, Argente J.
    An Esp Pediatr; 2000 Apr 15; 52(4):401-5. PubMed ID: 11003938
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  • 59. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
    Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS, International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM.
    Eur J Hum Genet; 2013 Oct 15; 21(10):1074-8. PubMed ID: 23386033
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