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Journal Abstract Search

158 related items for PubMed ID: 12574981

  • 1. Familial truncus arteriosus: a possible autosomal-recessive trait.
    Abushaban L, Uthaman B, Kumar AR, Selvan J.
    Pediatr Cardiol; 2003; 24(1):64-6. PubMed ID: 12574981
    [Abstract] [Full Text] [Related]

  • 2. Familial recurrence of nonsyndromic interrupted aortic arch and truncus arteriosus with atrioventricular canal.
    Digilio MC, Marino B, Musolino AM, Giannotti A, Dallapiccola B.
    Teratology; 2000 May; 61(5):329-31. PubMed ID: 10777827
    [Abstract] [Full Text] [Related]

  • 3. [Truncus arteriosus: an autosomal recessive disease?].
    le Marec B, Odent S, Almange C, Journel H, Roussey M, Defawe G.
    J Genet Hum; 1989 Sep; 37(3):225-30. PubMed ID: 2625625
    [Abstract] [Full Text] [Related]

  • 4. [22q11 deletion in conotruncal anomalies].
    Kádár K.
    Orv Hetil; 2005 Feb 20; 146(8):363-6. PubMed ID: 15803887
    [Abstract] [Full Text] [Related]

  • 5. Familial third and fourth pharyngeal pouch syndrome with truncus arteriosus: DiGeorge syndrome.
    Raatikka M, Rapola J, Tuuteri L, Louhimo I, Savilahti E.
    Pediatrics; 1981 Feb 20; 67(2):173-5. PubMed ID: 7243440
    [Abstract] [Full Text] [Related]

  • 6. Genetic background of congenital conotruncal heart defects--a study of 45 families.
    Kwiatkowska J, Wierzba J, Aleszewicz-Baranowska J, Ereciński J.
    Kardiol Pol; 2007 Jan 20; 65(1):32-7; discussion 38-9. PubMed ID: 17295158
    [Abstract] [Full Text] [Related]

  • 7. Genetics of conotruncal malformations: further evidence of autosomal recessive inheritance.
    Rein AJ, Sheffer R.
    Am J Med Genet; 1994 Apr 15; 50(3):302-3. PubMed ID: 8042678
    [No Abstract] [Full Text] [Related]

  • 8. [Search for 22q11 deletion and linkage study in familial cases of non-syndromic conotruncal defects].
    Debrus S.
    Arch Mal Coeur Vaiss; 1994 May 15; 87(5):657-61. PubMed ID: 7857190
    [Abstract] [Full Text] [Related]

  • 9. [Frequency of 22q11 deletions in children with isolated conotruncal defects].
    Shen L, Xu YJ, Zhao PJ, Sun K.
    Zhongguo Dang Dai Er Ke Za Zhi; 2009 Jan 15; 11(1):25-8. PubMed ID: 19149917
    [Abstract] [Full Text] [Related]

  • 10. Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies.
    Beauchesne LM, Warnes CA, Connolly HM, Ammash NM, Grogan M, Jalal SM, Michels VV.
    J Am Coll Cardiol; 2005 Feb 15; 45(4):595-8. PubMed ID: 15708709
    [Abstract] [Full Text] [Related]

  • 11. Congenital heart defects and chromosomal anomalies including 22q11 microdeletion (CATCH 22).
    Soares G, Alvares S, Rocha C, Teixeira MF, Mota MC, Reis MI, Feijó MJ, Lima MR, Pinto MR.
    Rev Port Cardiol; 2005 Mar 15; 24(3):349-71. PubMed ID: 15929620
    [Abstract] [Full Text] [Related]

  • 12. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
    Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS.
    Invest Ophthalmol Vis Sci; 2007 May 15; 48(5):2208-13. PubMed ID: 17460281
    [Abstract] [Full Text] [Related]

  • 13. [Genetic counseling of parents of children with eye diseases].
    François J.
    J Genet Hum; 1980 Dec 15; 28(4):105-22. PubMed ID: 7205195
    [Abstract] [Full Text] [Related]

  • 14. 22q11.2 deletion syndrome in Singapore (2000-2003): a case for active ascertainment.
    Tan KB, Chew SK, Yeo GS.
    Singapore Med J; 2008 Apr 15; 49(4):286-9. PubMed ID: 18418519
    [Abstract] [Full Text] [Related]

  • 15. Cardiac conotruncal malformations in a family of beagle dogs.
    Diez-Prieto I, García-Rodríguez B, Ríos-Granja A, Cano-Rábano M, Peña-Penabad M, García CP.
    J Small Anim Pract; 2009 Nov 15; 50(11):597-603. PubMed ID: 19814768
    [Abstract] [Full Text] [Related]

  • 16. Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.
    Shaheen R, Al Hashem A, Alghamdi MH, Seidahmad MZ, Wakil SM, Dagriri K, Keavney B, Goodship J, Alyousif S, Al-Habshan FM, Alhussein K, Almoisheer A, Ibrahim N, Alkuraya FS.
    J Med Genet; 2015 May 15; 52(5):322-9. PubMed ID: 25713110
    [Abstract] [Full Text] [Related]

  • 17. Familial auditory neuropathy.
    Wang Q, Gu R, Han D, Yang W.
    Laryngoscope; 2003 Sep 15; 113(9):1623-9. PubMed ID: 12972945
    [Abstract] [Full Text] [Related]

  • 18. Unilateral isolated microphthalmia inherited as an autosomal recessive trait.
    Fleckenstein M, Maumenee IH.
    Ophthalmic Genet; 2005 Dec 15; 26(4):163-8. PubMed ID: 16352476
    [Abstract] [Full Text] [Related]

  • 19. Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family.
    Arnold GL, Bixler D, Girod D.
    Am J Med Genet; 1983 Sep 15; 16(1):35-42. PubMed ID: 6638068
    [Abstract] [Full Text] [Related]

  • 20. Familial hydrocephalus of prenatal onset.
    Zlotogora J, Sagi M, Cohen T.
    Am J Med Genet; 1994 Jan 15; 49(2):202-4. PubMed ID: 8116668
    [Abstract] [Full Text] [Related]

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