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Journal Abstract Search

204 related items for PubMed ID: 1433242

  • 1. Familial postaxial acrofacial dysostosis syndrome.
    Giannotti A, Digilio MC, Virgili Q, Obregon MG, Guadagni AM, Ventura T, Dallapiccola B.
    J Med Genet; 1992 Oct; 29(10):752. PubMed ID: 1433242
    [No Abstract] [Full Text] [Related]

  • 2. Severe postaxial acrofacial dysostosis: an anatomic and angiographic study.
    Rodríguez JI, Palacios J.
    Am J Med Genet; 1990 Apr; 35(4):490-2. PubMed ID: 2333876
    [Abstract] [Full Text] [Related]

  • 3. Postaxial acrofacial dysostosis (Miller) syndrome: a new case.
    Vigneron J, Stricker M, Vert P, Rousselot JM, Levy M.
    J Med Genet; 1991 Sep; 28(9):636-8. PubMed ID: 1683410
    [Abstract] [Full Text] [Related]

  • 4. Rodriguez lethal acrofacial dysostosis syndrome with pulmonary hypoplasia.
    Miyawaki M, Higuchi R, Yoshikawa N.
    Pediatr Int; 2009 Aug; 51(4):593-5. PubMed ID: 19674374
    [No Abstract] [Full Text] [Related]

  • 5. Miller syndrome with novel dihydroorotate dehydrogenase gene mutations.
    Kinoshita F, Kondoh T, Komori K, Matsui T, Harada N, Yanai A, Fukuda M, Morifuji K, Matsumoto T.
    Pediatr Int; 2011 Aug; 53(4):587-91. PubMed ID: 21851494
    [No Abstract] [Full Text] [Related]

  • 6. New acrofacial dysostosis syndrome in 3 sibs.
    Rodríguez JI, Palacios J, Urioste M.
    Am J Med Genet; 1990 Apr; 35(4):484-9. PubMed ID: 2333875
    [Abstract] [Full Text] [Related]

  • 7. Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.
    Sermer D, Quercia N, Chong K, Chitayat D.
    Am J Med Genet A; 2007 Dec 15; 143A(24):3286-9. PubMed ID: 18000904
    [Abstract] [Full Text] [Related]

  • 8. Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?
    Zhang Y, Dai Y, Liu Y, Ren J.
    Clin Genet; 2010 Dec 15; 78(6):570-4. PubMed ID: 20412112
    [Abstract] [Full Text] [Related]

  • 9. Facial characteristics are not distinctive features for the acrofacial dysostosis syndrome type Kennedy-Teebi.
    Ruiter M, van Dijken PJ, de Vries BB.
    Am J Med Genet A; 2005 Jun 15; 135(3):344; author reply 345. PubMed ID: 15822074
    [No Abstract] [Full Text] [Related]

  • 10. Miller's syndrome. Anaesthetic management of postaxial acrofacial dysostosis.
    Richards M.
    Anaesthesia; 1987 Aug 15; 42(8):871-4. PubMed ID: 3661933
    [Abstract] [Full Text] [Related]

  • 11. [Familial case of the syndrome of ectrodactyly and mandibulo-facial dysostosis].
    Fontaine G, Farriaux JP, Delattre P, Gidlecki Z, Poupard B, Durieux G, Piquet JJ.
    J Genet Hum; 1974 Dec 15; 22(4):289-307. PubMed ID: 4376815
    [No Abstract] [Full Text] [Related]

  • 12. Craniofacial disorders that have phenotypic overlap with Treacher Collins syndrome.
    Green B, Nikkhah D, Cobb AR, Dunaway DJ.
    J Plast Reconstr Aesthet Surg; 2013 Aug 15; 66(8):e234-5. PubMed ID: 23664577
    [No Abstract] [Full Text] [Related]

  • 13. Robin sequence and oligodactyly in mother and son.
    Robinow M, Johnson GF, Apesos J.
    Am J Med Genet; 1986 Oct 15; 25(2):293-7. PubMed ID: 3777025
    [Abstract] [Full Text] [Related]

  • 14. Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.
    Rainger J, Bengani H, Campbell L, Anderson E, Sokhi K, Lam W, Riess A, Ansari M, Smithson S, Lees M, Mercer C, McKenzie K, Lengfeld T, Gener Querol B, Branney P, McKay S, Morrison H, Medina B, Robertson M, Kohlhase J, Gordon C, Kirk J, Wieczorek D, Fitzpatrick DR.
    Hum Mol Genet; 2012 Sep 15; 21(18):3969-83. PubMed ID: 22692683
    [Abstract] [Full Text] [Related]

  • 15. The acrofacial dysostoses--a wide spectrum of overlapping phenotypes.
    Dimitrov B, Balikova I, Bradinova I, Zahariev D, Popova A, Simeonov E, De Smet L, Devriendt K, Fryns JP.
    Genet Couns; 2005 Sep 15; 16(2):181-6. PubMed ID: 16080300
    [No Abstract] [Full Text] [Related]

  • 16. Acrofacial dysostosis of unknown type: nosology of the acrofacial dysostoses.
    Preis S, Raymaekers-Buntinx I, Majewski F.
    Am J Med Genet; 1995 Mar 27; 56(2):155-60. PubMed ID: 7625437
    [Abstract] [Full Text] [Related]

  • 17. Postaxial acrofacial dysostosis: report of a Brazilian patient.
    Richieri-Costa A, Guion-Almeida ML.
    Am J Med Genet; 1989 Aug 27; 33(4):447-9. PubMed ID: 2596501
    [Abstract] [Full Text] [Related]

  • 18. A variant or a "new" postaxial acrofacial dysostosis syndrome.
    Sułko J, Kotulski D, Kozlowski K.
    Eur J Pediatr; 2008 Dec 27; 167(12):1385-8. PubMed ID: 18286304
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. Postaxial acrofacial dysostosis (Miller) syndrome.
    Donnai D, Hughes HE, Winter RM.
    J Med Genet; 1987 Jul 27; 24(7):422-5. PubMed ID: 3612717
    [No Abstract] [Full Text] [Related]

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