BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

214 related articles for article (PubMed ID: 21172461)

  • 1. 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.
    Nakamura E; Makita Y; Okamoto T; Nagaya K; Hayashi T; Sugimoto M; Manabe H; Taketazu G; Kajino H; Fujieda K
    Eur J Med Genet; 2011; 54(3):354-6. PubMed ID: 21172461
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter.
    Poot M; Eleveld MJ; van 't Slot R; van Genderen MM; Verrijn Stuart AA; Hochstenbach R; Beemer FA
    Eur J Med Genet; 2007; 50(6):432-40. PubMed ID: 17931990
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay.
    Davidsson J; Collin A; Björkhem G; Soller M
    BMC Med Genet; 2008 Jan; 9():2. PubMed ID: 18194513
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect.
    Jaillard S; Loget P; Lucas J; Dubourg C; Le Bouar G; Demurger F; Bertorello I; David V; Poulain P; Odent S; Belaud-Rotureau MA
    Eur J Med Genet; 2011; 54(2):186-8. PubMed ID: 21115145
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects.
    Willemsen MH; de Leeuw N; Pfundt R; de Vries BB; Kleefstra T
    Eur J Med Genet; 2009; 52(2-3):134-9. PubMed ID: 19303465
    [TBL] [Abstract][Full Text] [Related]  

  • 6. An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
    Bremer A; Schoumans J; Nordenskjöld M; Anderlid BM; Giacobini M
    Eur J Med Genet; 2009; 52(5):358-62. PubMed ID: 19576304
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.
    Ballarati L; Cereda A; Caselli R; Selicorni A; Recalcati MP; Maitz S; Finelli P; Larizza L; Giardino D
    Eur J Med Genet; 2011; 54(1):55-9. PubMed ID: 20969981
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.
    Tyshchenko N; Hackmann K; Gerlach EM; Neuhann T; Schrock E; Tinschert S
    Eur J Med Genet; 2009; 52(2-3):128-30. PubMed ID: 19298871
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review.
    Benbouchta Y; De Leeuw N; Amasdl S; Sbiti A; Smeets D; Sadki K; Sefiani A
    Ital J Pediatr; 2021 Sep; 47(1):188. PubMed ID: 34530895
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome?
    Rauen KA; Albertson DG; Pinkel D; Cotter PD
    Am J Med Genet; 2002 Jun; 110(1):51-6. PubMed ID: 12116271
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene.
    Szabó A; Czakó M; Hadzsiev K; Duga B; Bánfai Z; Komlósi K; Melegh B
    Am J Med Genet A; 2018 Feb; 176(2):443-449. PubMed ID: 29226546
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Terminal deletion of the long arm of chromosome 10: case report and review of the literature.
    Gorinati M; Zamboni G; Padoin N; Dodero A; Caufin D; Memo L
    Am J Med Genet; 1989 Aug; 33(4):502-4. PubMed ID: 2688417
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A 1.1Mb deletion in distal 13q deletion syndrome region with congenital heart defect and postaxial polydactyly: additional support for a CHD locus at distal 13q34 region.
    Yang YF; Ai Q; Huang C; Chen JL; Wang J; Xie L; Zhang WZ; Yang JF; Tan ZP
    Gene; 2013 Oct; 528(1):51-4. PubMed ID: 23639964
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case.
    Veredice C; Bianco F; Contaldo I; Orteschi D; Stefanini MC; Battaglia D; Lettori D; Guzzetta F; Zollino M
    Epilepsia; 2009 Jul; 50(7):1810-5. PubMed ID: 19486360
    [TBL] [Abstract][Full Text] [Related]  

  • 15. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease.
    Pehlivan T; Pober BR; Brueckner M; Garrett S; Slaugh R; Van Rheeden R; Wilson DB; Watson MS; Hing AV
    Am J Med Genet; 1999 Mar; 83(3):201-6. PubMed ID: 10096597
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.
    Koochek M; Harvard C; Hildebrand MJ; Van Allen M; Wingert H; Mickelson E; Holden JJ; Rajcan-Separovic E; Lewis ME
    Clin Genet; 2006 Feb; 69(2):124-34. PubMed ID: 16433693
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion.
    Huang C; Yang YF; Yin N; Chen JL; Wang J; Zhang H; Tan ZP
    Gene; 2012 May; 498(2):308-10. PubMed ID: 22366306
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects.
    Lindor NM; Michels VV; Hoppe DA; Driscoll DJ; Leavitt JA; Dewald GW
    Am J Med Genet; 1992 Sep; 44(1):61-5. PubMed ID: 1519653
    [TBL] [Abstract][Full Text] [Related]  

  • 19. An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.
    Verheij JB; de Munnik SA; Dijkhuizen T; de Leeuw N; Olde Weghuis D; van den Hoek GJ; Rijlaarsdam RS; Thomasse YE; Dikkers FG; Marcelis CL; van Ravenswaaij-Arts CM
    Eur J Med Genet; 2009; 52(5):353-7. PubMed ID: 19464398
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.
    Erdogan F; Ullmann R; Chen W; Schubert M; Adolph S; Hultschig C; Kalscheuer V; Ropers HH; Spaich C; Tzschach A
    Am J Med Genet A; 2007 Jan; 143A(2):172-8. PubMed ID: 17163532
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.