BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 15117819)

  • 1. Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.
    Christiansen J; Dyck JD; Elyas BG; Lilley M; Bamforth JS; Hicks M; Sprysak KA; Tomaszewski R; Haase SM; Vicen-Wyhony LM; Somerville MJ
    Circ Res; 2004 Jun; 94(11):1429-35. PubMed ID: 15117819
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
    Soemedi R; Topf A; Wilson IJ; Darlay R; Rahman T; Glen E; Hall D; Huang N; Bentham J; Bhattacharya S; Cosgrove C; Brook JD; Granados-Riveron J; Setchfield K; Bu'lock F; Thornborough C; Devriendt K; Breckpot J; Hofbeck M; Lathrop M; Rauch A; Blue GM; Winlaw DS; Hurles M; Santibanez-Koref M; Cordell HJ; Goodship JA; Keavney BD
    Hum Mol Genet; 2012 Apr; 21(7):1513-20. PubMed ID: 22199024
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An eight-case 1q21 region series: novel aberrations and clinical variability with new features.
    Ceylan AC; Sahin I; Erdem HB; Kayhan G; Simsek-Kiper PO; Utine GE; Percin F; Boduroglu K; Alikasifoglu M
    J Intellect Disabil Res; 2019 Jun; 63(6):548-557. PubMed ID: 30773728
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
    Brunetti-Pierri N; Berg JS; Scaglia F; Belmont J; Bacino CA; Sahoo T; Lalani SR; Graham B; Lee B; Shinawi M; Shen J; Kang SH; Pursley A; Lotze T; Kennedy G; Lansky-Shafer S; Weaver C; Roeder ER; Grebe TA; Arnold GL; Hutchison T; Reimschisel T; Amato S; Geragthy MT; Innis JW; Obersztyn E; Nowakowska B; Rosengren SS; Bader PI; Grange DK; Naqvi S; Garnica AD; Bernes SM; Fong CT; Summers A; Walters WD; Lupski JR; Stankiewicz P; Cheung SW; Patel A
    Nat Genet; 2008 Dec; 40(12):1466-71. PubMed ID: 19029900
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case control and family-based studies.
    Ni X; Valente J; Azevedo MH; Pato MT; Pato CN; Kennedy JL
    J Med Genet; 2007 Aug; 44(8):532-6. PubMed ID: 17412882
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Heart and head defects in mice lacking pairs of connexins.
    Simon AM; McWhorter AR; Dones JA; Jackson CL; Chen H
    Dev Biol; 2004 Jan; 265(2):369-83. PubMed ID: 14732399
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.
    Digilio MC; Bernardini L; Consoli F; Lepri FR; Giuffrida MG; Baban A; Surace C; Ferese R; Angioni A; Novelli A; Marino B; De Luca A; Dallapiccola B
    Eur J Med Genet; 2013 Mar; 56(3):144-9. PubMed ID: 23270675
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clavicular pseudoarthrosis, anomalous coronary artery and extra crease of the fifth finger-previously unreported features in individuals with class II 1q21.1 microdeletions.
    Velinov M; Dolzhanskaya N
    Eur J Med Genet; 2010; 53(4):213-6. PubMed ID: 20573555
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A new embryonic linkage between chromosome 22q11 deletion and a right ductus from a right aortic arch in a neonate with DiGeorge syndrome.
    Lee ML; Chaou WT; Wang YM; Fang W; Chiu IS
    Int J Cardiol; 2001 Jul; 79(2-3):315-6. PubMed ID: 11488286
    [No Abstract]   [Full Text] [Related]  

  • 10. Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.
    Wang HD; Liu L; Wu D; Li T; Cui CY; Zhang LZ; Wang CZ
    J Gene Med; 2017 Apr; 19(4):. PubMed ID: 28220983
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
    Mefford HC; Sharp AJ; Baker C; Itsara A; Jiang Z; Buysse K; Huang S; Maloney VK; Crolla JA; Baralle D; Collins A; Mercer C; Norga K; de Ravel T; Devriendt K; Bongers EM; de Leeuw N; Reardon W; Gimelli S; Bena F; Hennekam RC; Male A; Gaunt L; Clayton-Smith J; Simonic I; Park SM; Mehta SG; Nik-Zainal S; Woods CG; Firth HV; Parkin G; Fichera M; Reitano S; Lo Giudice M; Li KE; Casuga I; Broomer A; Conrad B; Schwerzmann M; Räber L; Gallati S; Striano P; Coppola A; Tolmie JL; Tobias ES; Lilley C; Armengol L; Spysschaert Y; Verloo P; De Coene A; Goossens L; Mortier G; Speleman F; van Binsbergen E; Nelen MR; Hochstenbach R; Poot M; Gallagher L; Gill M; McClellan J; King MC; Regan R; Skinner C; Stevenson RE; Antonarakis SE; Chen C; Estivill X; Menten B; Gimelli G; Gribble S; Schwartz S; Sutcliffe JS; Walsh T; Knight SJ; Sebat J; Romano C; Schwartz CE; Veltman JA; de Vries BB; Vermeesch JR; Barber JC; Willatt L; Tassabehji M; Eichler EE
    N Engl J Med; 2008 Oct; 359(16):1685-99. PubMed ID: 18784092
    [TBL] [Abstract][Full Text] [Related]  

  • 12. High incidence of cardiac malformations in connexin40-deficient mice.
    Gu H; Smith FC; Taffet SM; Delmar M
    Circ Res; 2003 Aug; 93(3):201-6. PubMed ID: 12842919
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Laterality of the aortic arch and anomalies of the subclavian artery-reliable indicators for 22q11.2 deletion syndromes?
    Rauch R; Rauch A; Koch A; Zink S; Kaulitz R; Girisch M; Singer H; Hofbeck M
    Eur J Pediatr; 2004 Nov; 163(11):642-5. PubMed ID: 15300432
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [A heterozygous transversion of connexin 50 in a family with congenital nuclear cataract in the northeast of China].
    Zheng JQ; Ma ZW; Sun HM
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Feb; 22(1):76-8. PubMed ID: 15696487
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Developmental anomalies of the outflow tracts and aortic arch: towards an understanding of the role of deletions within the 22nd chromosome.
    McElhinney DB; Anderson RH
    Cardiol Young; 1999 Sep; 9(5):451-7. PubMed ID: 10535821
    [No Abstract]   [Full Text] [Related]  

  • 16. Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects.
    Derbent M; Yilmaz Z; Baltaci V; Saygili A; Varan B; Tokel K
    Am J Med Genet A; 2003 Jan; 116A(2):129-35. PubMed ID: 12494430
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Chromosome 5q33 deletions associated with congenital heart defects.
    Starkovich M; Lalani SR; Mercer CL; Scott DA
    Am J Med Genet A; 2016 Dec; 170(12):3338-3342. PubMed ID: 27589475
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cardiac morphogenetic defects and conduction abnormalities in mice homozygously deficient for connexin40 and heterozygously deficient for connexin45.
    Krüger O; Maxeiner S; Kim JS; van Rijen HV; de Bakker JM; Eckardt D; Tiemann K; Lewalter T; Ghanem A; Lüderitz B; Willecke K
    J Mol Cell Cardiol; 2006 Nov; 41(5):787-97. PubMed ID: 16919680
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study.
    Webber SA; Hatchwell E; Barber JC; Daubeney PE; Crolla JA; Salmon AP; Keeton BR; Temple IK; Dennis NR
    J Pediatr; 1996 Jul; 129(1):26-32. PubMed ID: 8757559
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch.
    Rauch A; Hofbeck M; Leipold G; Klinge J; Trautmann U; Kirsch M; Singer H; Pfeiffer RA
    Am J Med Genet; 1998 Jul; 78(4):322-31. PubMed ID: 9714433
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.