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Journal Abstract Search

320 related items for PubMed ID: 12376934

  • 1. Kousseff syndrome caused by deletion of chromosome 22q11-13.
    Forrester S, Kovach MJ, Smith RE, Rimer L, Wesson M, Kimonis VE.
    Am J Med Genet; 2002 Nov 01; 112(4):338-42. PubMed ID: 12376934
    [Abstract] [Full Text] [Related]

  • 2. CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11.
    Sergi C, Serpi M, Müller-Navia J, Schnabel PA, Hagl S, Otto HF, Ulmer HE.
    Pathologica; 1999 Jun 01; 91(3):166-72. PubMed ID: 10536461
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  • 3. Neural tube defects and deletions of 22q11.
    Nickel RE, Magenis RE.
    Am J Med Genet; 1996 Dec 02; 66(1):25-7. PubMed ID: 8957506
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  • 4. 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 02; 65(1):32-7; discussion 38-9. PubMed ID: 17295158
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  • 5. Clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience.
    Vantrappen G, Rommel N, Devriendt K, Cremers CW, Feenstra L, Fryns JP.
    Acta Otorhinolaryngol Belg; 2001 Jan 02; 55(1):43-8. PubMed ID: 11256191
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  • 7. Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.
    Lindsay EA, Goldberg R, Jurecic V, Morrow B, Carlson C, Kucherlapati RS, Shprintzen RJ, Baldini A.
    Am J Med Genet; 1995 Jul 03; 57(3):514-22. PubMed ID: 7677167
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  • 10. Prenatal diagnosis of a 22q11 deletion in a second-trimester fetus with conotruncal anomaly, absent thymus and meningomyelocele: Kousseff syndrome.
    Canda MT, Demir N, Bal FU, Doganay L, Sezer O.
    J Obstet Gynaecol Res; 2012 Apr 03; 38(4):737-40. PubMed ID: 22380655
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  • 11. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.
    Matsuoka R, Takao A, Kimura M, Imamura S, Kondo C, Joh-o K, Ikeda K, Nishibatake M, Ando M, Momma K.
    Am J Med Genet; 1994 Nov 15; 53(3):285-9. PubMed ID: 7856665
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  • 12. Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.
    Kelly D, Goldberg R, Wilson D, Lindsay E, Carey A, Goodship J, Burn J, Cross I, Shprintzen RJ, Scambler PJ.
    Am J Med Genet; 1993 Feb 01; 45(3):308-12. PubMed ID: 8434616
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  • 13. [Improvement of genetic diagnostic strategy in velo-cardio-facial syndrome].
    Pânzaru M, Rusu C, Voloşciuc M, Braha E, Butnariu L, Ivanov I, Grămescu M, Popescu R, Caba L, Sireteanu A, Macovei M, Covic M, Gorduza EV.
    Rev Med Chir Soc Med Nat Iasi; 2011 Feb 01; 115(3):756-61. PubMed ID: 22046783
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  • 14. Scoliosis in velo-cardio-facial syndrome.
    Morava E, Lacassie Y, King A, Illes T, Marble M.
    J Pediatr Orthop; 2002 Feb 01; 22(6):780-3. PubMed ID: 12409907
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  • 15. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.
    Berend SA, Spikes AS, Kashork CD, Wu JM, Daw SC, Scambler PJ, Shaffer LG.
    Am J Med Genet; 2000 Apr 10; 91(4):313-7. PubMed ID: 10766989
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  • 16. Kousseff syndrome: a causally heterogeneous disorder.
    Maclean K, Field MJ, Colley AS, Mowat DR, Sparrow DB, Dunwoodie SL, Kirk EP.
    Am J Med Genet A; 2004 Jan 30; 124A(3):307-12. PubMed ID: 14708106
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  • 17. Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion.
    Akçakuş M, Güneş T, Kurtoğlu S, Cetin N, Ozkul Y, Narin N, Atabek ME, Uğraş R.
    Turk J Pediatr; 2004 Jan 30; 46(2):191-3. PubMed ID: 15214756
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  • 18. Velo-cardio-facial and DiGeorge syndromes with meningomyelocele and deletions of the 22Q11 region.
    Nickel RE, Pillers DA, Merkens M, Magenis RE, Driscoll DA, Emanuel BS, Zonana J.
    Eur J Pediatr Surg; 1993 Dec 30; 3 Suppl 1():27-8. PubMed ID: 8130147
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  • 19. A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome.
    Hassed SJ, Hopcus-Niccum D, Zhang L, Li S, Mulvihill JJ.
    Clin Genet; 2004 May 30; 65(5):400-4. PubMed ID: 15099348
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  • 20. [Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome].
    Muñoz S, Garay F, Flores I, Heusser F, Talesnik E, Aracena M, Mellado C, Méndez C, Arnaiz P, Repetto G.
    Rev Med Chil; 2001 May 30; 129(5):515-21. PubMed ID: 11464533
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