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Journal Abstract Search

159 related items for PubMed ID: 9557892

  • 1. Neuropathologic findings in a case of OFDS type VI (Váradi syndrome).
    Doss BJ, Jolly S, Qureshi F, Jacques SM, Evans MI, Johnson MP, Lampinen J, Kupsky WJ.
    Am J Med Genet; 1998 Apr 28; 77(1):38-42. PubMed ID: 9557892
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  • 4. Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome?
    Okten A, Mungan L, Orhan F, Cakir M.
    Genet Couns; 2005 Apr 28; 16(1):101-5. PubMed ID: 15844787
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  • 5. Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.
    Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E.
    Orphanet J Rare Dis; 2012 Jan 11; 7():4. PubMed ID: 22236771
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  • 6. Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect.
    Hsieh YC, Hou JW.
    Am J Med Genet; 1999 Sep 17; 86(3):278-81. PubMed ID: 10482880
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  • 9. [25 years' history of Váradi-Papp syndrome (orofaciodigital syndrome VI].
    Váradi V, Papp Z.
    Orv Hetil; 2005 Sep 25; 146(39):2017-22. PubMed ID: 16265870
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  • 10. Orofacial manifestations and dental considerations in association with Varadi-Papp syndrome: report of a rare case.
    Chhabra N, Chhabra A, Tandon S.
    Eur Arch Paediatr Dent; 2016 Feb 25; 17(1):65-70. PubMed ID: 26159782
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  • 14. Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case.
    Patra S, Purkait R, Samanta T, Bhadra R.
    Ann Indian Acad Neurol; 2013 Apr 25; 16(2):289-91. PubMed ID: 23956587
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  • 16. Oral-facial-digital syndrome with retinal abnormalities: OFDS type IX. A further case report.
    Nevin NC, Silvestri J, Kernohan DC, Hutchinson WM.
    Am J Med Genet; 1994 Jul 01; 51(3):228-31. PubMed ID: 8074150
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  • 17. Oral-facial-digital syndrome: report on a transitional type between the Mohr and Váradi syndromes in a fetus.
    Camera G, Marasini M, Pozzolo S, Camera A.
    Am J Med Genet; 1994 Nov 01; 53(2):196-8. PubMed ID: 7856648
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  • 18. Oral-facial-digital syndrome type II (Mohr syndrome): clinical and genetic manifestations.
    Sakai N, Nakakita N, Yamazaki Y, Ui K, Uchinuma E.
    J Craniofac Surg; 2002 Mar 01; 13(2):321-6. PubMed ID: 12000897
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  • 19. On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome.
    Muenke M, Ruchelli ED, Rorke LB, McDonald-McGinn DM, Orlow MK, Isaacs A, Craparo FJ, Dunn LK, Zackai EH.
    Am J Med Genet; 1991 Dec 15; 41(4):548-56. PubMed ID: 1776653
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  • 20. Whole-exome sequencing identified novel variants in CPLANE1 that causes oral-facial-digital syndrome Ⅵ by inducing primary cilia abnormality.
    Qian W, Liu X, Wang Z, Xu Y, Zhang J, Li H, Zhong Q, Li C, Zhu L, Zhou Z, Pan W.
    J Cell Mol Med; 2022 Jun 15; 26(11):3213-3222. PubMed ID: 35582950
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