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Journal Abstract Search

210 related items for PubMed ID: 8481040

  • 21.
    ; . PubMed ID:
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  • 22. A case report of Noonan's syndrome with pulmonary valvar stenosis and coronary aneurysms.
    Loukas M, Dabrowski M, Kantoch M, Ruzyłło W, Waltenberger J, Giannikopoulos P.
    Med Sci Monit; 2004 Dec; 10(12):CS80-3. PubMed ID: 15567989
    [Abstract] [Full Text] [Related]

  • 23. Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance.
    Pinto-Escalante D, Ceballos-Quintal JM, Castillo-Zapata I, Canto-Herrera J.
    Am J Med Genet; 1998 Mar 05; 76(2):150-3. PubMed ID: 9511978
    [Abstract] [Full Text] [Related]

  • 24. Familial DiGeorge syndrome and associated partial monosomy of chromosome 22.
    Greenberg F, Crowder WE, Paschall V, Colon-Linares J, Lubianski B, Ledbetter DH.
    Hum Genet; 1984 Mar 05; 65(4):317-9. PubMed ID: 6693120
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  • 25. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.
    Lichtner P, König R, Hasegawa T, Van Esch H, Meitinger T, Schuffenhauer S.
    J Med Genet; 2000 Jan 05; 37(1):33-7. PubMed ID: 10633131
    [Abstract] [Full Text] [Related]

  • 26. [The C heterochromatin of chromosomes 1, 9, 16 and Y in patients with Noonan's syndrome].
    Podugol'nikova OA, Solonichenko VG.
    Tsitol Genet; 1994 Jan 05; 28(3):85-8. PubMed ID: 7974791
    [Abstract] [Full Text] [Related]

  • 27. Radiological features of late-onset lymphoedema in Noonan's syndrome.
    Ho WL, Wang JK, Li YW.
    Pediatr Radiol; 2003 Mar 05; 33(3):200-2. PubMed ID: 12612821
    [Abstract] [Full Text] [Related]

  • 28.
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  • 29. Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2).
    Lupski JR, Langston C, Friedman R, Ledbetter DH, Greenberg F.
    Am J Med Genet; 1991 Aug 01; 40(2):196-8. PubMed ID: 1897574
    [Abstract] [Full Text] [Related]

  • 30.
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  • 31.
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  • 32. [Turner's phenotype and diagnosis of Noonan's syndrome].
    Latini G, Berardi R.
    Pediatr Med Chir; 1982 Aug 01; 4(5):535-8. PubMed ID: 6927352
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  • 33.
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  • 34. Inherited t(9;22) as the cause of DiGeorge syndrome: a case report.
    Shuib S, Abdul Latif Z, Abidin NZ, Akmal SN, Zakaria Z.
    Malays J Pathol; 2009 Dec 01; 31(2):133-6. PubMed ID: 20514857
    [Abstract] [Full Text] [Related]

  • 35. [Cerebral defects in Noonan's syndrome (author's transl)].
    Görke W.
    Klin Padiatr; 1980 Nov 01; 192(6):577-81. PubMed ID: 7194399
    [Abstract] [Full Text] [Related]

  • 36. DiGeorge anomaly associated with 10p deletion.
    Monaco G, Pignata C, Rossi E, Mascellaro O, Cocozza S, Ciccimarra F.
    Am J Med Genet; 1991 May 01; 39(2):215-6. PubMed ID: 2063928
    [Abstract] [Full Text] [Related]

  • 37. In situ hybridization and translocation breakpoint mapping. III. DiGeorge syndrome with partial monosomy of chromosome 22.
    Cannizzaro LA, Emanuel BS.
    Cytogenet Cell Genet; 1985 May 01; 39(3):179-83. PubMed ID: 3930157
    [Abstract] [Full Text] [Related]

  • 38. Modeling age-specific facial development in Williams-Beuren-, Noonan-, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3-18 years: A cross-sectional three-dimensional geometric morphometry analysis of their facial gestalt.
    Čaplovičová M, Moslerová V, Dupej J, Macek M, Zemková D, Hoffmannová E, Havlovicová M, Velemínská J.
    Am J Med Genet A; 2018 Dec 01; 176(12):2604-2613. PubMed ID: 30380201
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  • 39.
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  • 40. The deletions of 22q11--the Portuguese experience.
    Gaspar IM, Lourenço MT, Reis MI, Soares MA, Nogueira G, Ferreira F, Feijóo MJ.
    Genet Couns; 1999 Dec 01; 10(1):51-7. PubMed ID: 10191429
    [Abstract] [Full Text] [Related]

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