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Journal Abstract Search

128 related items for PubMed ID: 9781025

  • 1. Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).
    Schuffenhauer S, Lichtner P, Peykar-Derakhshandeh P, Murken J, Haas OA, Back E, Wolff G, Zabel B, Barisic I, Rauch A, Borochowitz Z, Dallapiccola B, Ross M, Meitinger T.
    Eur J Hum Genet; 1998; 6(3):213-25. PubMed ID: 9781025
    [Abstract] [Full Text] [Related]

  • 2. DiGeorge anomaly and chromosome 10p deletions: one or two loci?
    Dasouki M, Jurecic V, Phillips JA, Whitlock JA, Baldini A.
    Am J Med Genet; 1997 Nov 28; 73(1):72-5. PubMed ID: 9375926
    [Abstract] [Full Text] [Related]

  • 3. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes.
    Daw SC, Taylor C, Kraman M, Call K, Mao J, Schuffenhauer S, Meitinger T, Lipson T, Goodship J, Scambler P.
    Nat Genet; 1996 Aug 28; 13(4):458-60. PubMed ID: 8696341
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization.
    Lindsay EA, Halford S, Wadey R, Scambler PJ, Baldini A.
    Genomics; 1993 Aug 10; 17(2):403-7. PubMed ID: 8406492
    [Abstract] [Full Text] [Related]

  • 6. DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.
    Demczuk S, Aurias A.
    Ann Genet; 1995 Aug 10; 38(2):59-76. PubMed ID: 7486827
    [Abstract] [Full Text] [Related]

  • 7. Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.
    Yatsenko SA, Yatsenko AN, Szigeti K, Craigen WJ, Stankiewicz P, Cheung SW, Lupski JR.
    Clin Genet; 2004 Aug 10; 66(2):128-36. PubMed ID: 15253763
    [Abstract] [Full Text] [Related]

  • 8. DiGeorge syndrome and partial monosomy 10p: case report and review.
    Schuffenhauer S, Seidel H, Oechsler H, Belohradsky B, Bernsau U, Murken J, Meitinger T.
    Ann Genet; 1995 Aug 10; 38(3):162-7. PubMed ID: 8540688
    [Abstract] [Full Text] [Related]

  • 9. Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies.
    Skrypnyk C, Goecke TO, Majewski F, Bartsch O.
    Am J Med Genet; 2002 Nov 22; 113(2):207-12. PubMed ID: 12407714
    [Abstract] [Full Text] [Related]

  • 10. The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome.
    Van Esch H, Groenen P, Fryns JP, Van de Ven W, Devriendt K.
    Genet Couns; 1999 Nov 22; 10(1):59-65. PubMed ID: 10191430
    [Abstract] [Full Text] [Related]

  • 11. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene.
    Budarf ML, Collins J, Gong W, Roe B, Wang Z, Bailey LC, Sellinger B, Michaud D, Driscoll DA, Emanuel BS.
    Nat Genet; 1995 Jul 22; 10(3):269-78. PubMed ID: 7670464
    [Abstract] [Full Text] [Related]

  • 12. Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p.
    Lichtner P, Attié-Bitach T, Schuffenhauer S, Henwood J, Bouvagnet P, Scambler PJ, Meitinger T, Vekemans M.
    J Mol Med (Berl); 2002 Jul 22; 80(7):431-42. PubMed ID: 12110949
    [Abstract] [Full Text] [Related]

  • 13. Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit.
    Berti L, Mittler G, Przemeck GK, Stelzer G, Günzler B, Amati F, Conti E, Dallapiccola B, Hrabé de Angelis M, Novelli G, Meisterernst M.
    Genomics; 2001 Jun 15; 74(3):320-32. PubMed ID: 11414760
    [Abstract] [Full Text] [Related]

  • 14. Role of the vascular endothelial growth factor isoforms in retinal angiogenesis and DiGeorge syndrome.
    Stalmans I.
    Verh K Acad Geneeskd Belg; 2005 Jun 15; 67(4):229-76. PubMed ID: 16334858
    [Abstract] [Full Text] [Related]

  • 15. Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome.
    Driscoll DA.
    Methods Mol Med; 2006 Jun 15; 126():43-55. PubMed ID: 16930005
    [Abstract] [Full Text] [Related]

  • 16. Cardiac Registry screening for DiGeorge Critical Region deletion using loss of heterozygosity analysis.
    Katzman PJ, Smoot LB, Cox GF.
    Pediatr Dev Pathol; 2006 Jun 15; 9(4):266-79. PubMed ID: 16944986
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 91(3):166-72. PubMed ID: 10536461
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 37(1):33-7. PubMed ID: 10633131
    [Abstract] [Full Text] [Related]

  • 19. Hypocalcemia impacts heart failure control in DiGeorge 2 syndrome.
    Chao PH, Chao MC, Hwang KP, Chung MY.
    Acta Paediatr; 2009 Jan 15; 98(1):195-8. PubMed ID: 18795911
    [Abstract] [Full Text] [Related]

  • 20. Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization.
    Demczuk S, Desmaze C, Aikem M, Prieur M, Ledeist F, Sanson M, Rouleau G, Thomas G, Aurias A.
    Ann Genet; 1994 Jan 15; 37(2):60-5. PubMed ID: 7985979
    [Abstract] [Full Text] [Related]

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