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Journal Abstract Search

109 related items for PubMed ID: 11083386

  • 1. A stop codon mutation in the CBFA 1 gene causes cleidocranial dysplasia.
    Tsai FJ, Wu JY, Lin WD, Tsai CH.
    Acta Paediatr; 2000 Oct; 89(10):1262-5. PubMed ID: 11083386
    [No Abstract] [Full Text] [Related]

  • 2. Two independent rare events--a mutation in the RUNX2 gene and a de novo balanced translocation--in a fetus with cleidocranial dysplasia: pitfall in prenatal diagnosis.
    Le Caignec C, Winer N, Philippe HJ, Rival JM.
    Prenat Diagn; 2006 Aug; 26(8):759-60. PubMed ID: 16865744
    [No Abstract] [Full Text] [Related]

  • 3. RUNX genes, neoplasia, and cleidocranial dysplasia.
    Cohen MM.
    Am J Med Genet; 2001 Dec 01; 104(3):185-8. PubMed ID: 11754042
    [No Abstract] [Full Text] [Related]

  • 4. Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip.
    Yamachika E, Tsujigiwa H, Ishiwari Y, Mizukawa N, Nagai N, Sugahara T.
    J Oral Pathol Med; 2001 Jul 01; 30(6):381-3. PubMed ID: 11459326
    [Abstract] [Full Text] [Related]

  • 5. [Cleidocranial dysostosis].
    Ferencz B, Méhes K, Papp G.
    Orv Hetil; 1979 Dec 02; 120(48):2915-8. PubMed ID: 394090
    [No Abstract] [Full Text] [Related]

  • 6. PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients.
    Zhang YW, Yasui N, Kakazu N, Abe T, Takada K, Imai S, Sato M, Nomura S, Ochi T, Okuzumi S, Nogami H, Nagai T, Ohashi H, Ito Y.
    Gene; 2000 Feb 22; 244(1-2):21-8. PubMed ID: 10689183
    [Abstract] [Full Text] [Related]

  • 7. Second-trimester nasal bone hypoplasia/aplasia associated with cleidocranial dysplasia.
    Chen CP, Hung HY, Chang TY, Lin SP, Wang W.
    Prenat Diagn; 2004 May 22; 24(5):399-400. PubMed ID: 15164420
    [No Abstract] [Full Text] [Related]

  • 8. New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.
    Machuca-Tzili L, Monroy-Jaramillo N, González-del Angel A, Kofman-Alfaro S.
    Clin Genet; 2002 May 22; 61(5):349-53. PubMed ID: 12081718
    [Abstract] [Full Text] [Related]

  • 9. [Cleidocranial dysostosis].
    Trentani C.
    Chir Organi Mov; 1970 May 22; 59(2):160-6. PubMed ID: 5527296
    [No Abstract] [Full Text] [Related]

  • 10. Two siblings with cleidocranial dysplasia associated with atresia ani and psoriasis-like lesions: a new syndrome?
    Fukuda K, Miyanomae T, Nakata E, Tanaka M, Tanaka Y, Usui T.
    Eur J Pediatr; 1981 Mar 22; 136(1):109-11. PubMed ID: 7215385
    [Abstract] [Full Text] [Related]

  • 11. Cleidocranial dysplasia with severe parietal bone dysplasia: a new (p.Val124Serfs) RUNX2 mutation.
    Cardoso BM, Dupont J, Castanhinha S, Ejarque-Albuquerque M, Pereira S, Miltenberger-Miltenyi G, Oliveira G.
    Clin Dysmorphol; 2010 Jul 22; 19(3):150-152. PubMed ID: 20299969
    [No Abstract] [Full Text] [Related]

  • 12. Cleidocranial dysostosis.
    Back SJ, Pollock AN.
    Pediatr Emerg Care; 2013 Jul 22; 29(7):867-9. PubMed ID: 23823271
    [No Abstract] [Full Text] [Related]

  • 13. RUNX2 mutations in cleidocranial dysplasia.
    Lee KE, Seymen F, Ko J, Yildirim M, Tuna EB, Gencay K, Kim JW.
    Genet Mol Res; 2013 Oct 15; 12(4):4567-74. PubMed ID: 24222232
    [Abstract] [Full Text] [Related]

  • 14. Radiological findings and molecular genetic confirmation of cleidocranial dysplasia.
    Golan I, Baumert U, Held P, Feuerbach S, Müssig D.
    Clin Radiol; 2002 Jun 15; 57(6):525-9. PubMed ID: 12069472
    [No Abstract] [Full Text] [Related]

  • 15. Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.
    Morava E, Kárteszi J, Weisenbach J, Caliebe A, Mundlos S, Méhes K.
    Eur J Pediatr; 2002 Nov 15; 161(11):619-22. PubMed ID: 12424590
    [Abstract] [Full Text] [Related]

  • 16. Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.
    Garcia-Miñaur S, Mavrogiannis LA, Rannan-Eliya SV, Hendry MA, Liston WA, Porteous ME, Wilkie AO.
    Eur J Hum Genet; 2003 Nov 15; 11(11):892-5. PubMed ID: 14571277
    [Abstract] [Full Text] [Related]

  • 17. A family with cleidocranial dysplasia and crossed ectopic kidney in one child.
    Suresh SS.
    Acta Orthop Belg; 2009 Aug 15; 75(4):521-7. PubMed ID: 19774820
    [Abstract] [Full Text] [Related]

  • 18. [Pelvicocleidocranial dysostosis].
    Willich E, Mostafawy A.
    Fortschr Geb Rontgenstr Nuklearmed; 1970 Jul 15; 113(1):49-59. PubMed ID: 5313417
    [No Abstract] [Full Text] [Related]

  • 19. [Maxillofacial-dental anomalies in cleidocranial dysostosis].
    Belcastro S, Staffolani N, Nocchi S, Belcastro A.
    Minerva Stomatol; 1995 Oct 15; 44(10):493-7. PubMed ID: 8721210
    [Abstract] [Full Text] [Related]

  • 20. [Dysplasia cleido-facialis].
    Kozlowski K, Hanicka M, Zygulska-Machowa H.
    Z Kinderheilkd; 1970 Oct 15; 108(4):331-8. PubMed ID: 4996255
    [No Abstract] [Full Text] [Related]

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