BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

266 related articles for article (PubMed ID: 18006398)

  • 1. A patient with an interstitial duplication of chromosome 5p11-p13.3 further confirming a critical region for 5p duplication syndrome.
    Loscalzo ML; Becker TA; Sutcliffe M
    Eur J Med Genet; 2008; 51(1):54-60. PubMed ID: 18006398
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies.
    Harrison KJ; Teshima IE; Silver MM; Jay V; Unger S; Robinson WP; James A; Levin A; Chitayat D
    Am J Med Genet; 1998 Sep; 79(2):103-7. PubMed ID: 9741467
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.
    Oexle K; Hempel M; Jauch A; Meitinger T; Rivera-Brugués N; Stengel-Rutkowski S; Strom T
    Eur J Med Genet; 2011; 54(3):225-30. PubMed ID: 21211577
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Delineation of a duplication map of chromosome 3q: a new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region.
    Rizzu P; Haddad BR; Vallcorba I; Alonso A; Ferro MT; Garcia-Sagredo JM; Baldini A
    Am J Med Genet; 1997 Feb; 68(4):428-32. PubMed ID: 9021016
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome.
    Avansino JR; Dennis TR; Spallone P; Stock AD; Levin ML
    Am J Med Genet; 1999 Nov; 87(1):6-11. PubMed ID: 10528239
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p.
    Legare JM; Sekhon GS; Laxova R
    Am J Med Genet; 1994 Nov; 53(3):216-21. PubMed ID: 7856655
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome.
    Sreekantaiah C; Kronn D; Marinescu RC; Goldin B; Overhauser J
    Am J Med Genet; 1999 Sep; 86(3):264-8. PubMed ID: 10482877
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies.
    Morava E; Jackson KE; Tsien F; Marble MR
    Genet Couns; 2004; 15(4):449-53. PubMed ID: 15658621
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Direct duplication of 9p22-->p24 in a child with duplication 9p syndrome.
    Fujimoto A; Lin MS; Schwartz S
    Am J Med Genet; 1998 May; 77(4):268-71. PubMed ID: 9600733
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Trisomy 5p: a report of 2 cases].
    Alvarez-Coca J; García-Alix A; Delicado A; González M; Escribá R; López Pajares I; Morena V; Peralta A
    An Esp Pediatr; 1985 Mar; 22(4):288-92. PubMed ID: 4003955
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Interstitial duplication 19p.
    Stratton RF; DuPont BR; Olsen AS; Fertitta A; Hoyer M; Moore CM
    Am J Med Genet; 1995 Jul; 57(4):562-4. PubMed ID: 7573129
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype.
    Murru D; Boccone L; Ristaldi MS; Nucaro AL
    Genet Couns; 2008; 19(4):381-6. PubMed ID: 19239081
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Supernumerary marker chromosomes 5: confirmation of a critical region and resultant phenotype.
    D'Amato Sizonenko L; Ng D; Oei P; Winship I
    Am J Med Genet; 2002 Jul; 111(1):19-26. PubMed ID: 12124728
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face.
    Sarri C; Gyftodimou Y; Grigoriadou M; Pandelia E; Kalogirou S; Kokotas H; Mrasek K; Weise A; Petersen MB
    Cytogenet Genome Res; 2006; 114(3-4):330-7. PubMed ID: 16954675
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13).
    Tschernigg M; Petek E; Leonhardtsberger A; Wagner K; Kroisel PM
    Genet Couns; 2002; 13(3):303-7. PubMed ID: 12416638
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly.
    Erdogan F; Belloso JM; Gabau E; Ajbro KD; Guitart M; Ropers HH; Tommerup N; Ullmann R; Tümer Z; Larsen LA
    Eur J Med Genet; 2008; 51(1):81-6. PubMed ID: 17998172
    [TBL] [Abstract][Full Text] [Related]  

  • 17. De novo tandem duplication of chromosome segment 22q11-q12: clinical, cytogenetic, and molecular characterization.
    Lindsay EA; Shaffer LG; Carrozzo R; Greenberg F; Baldini A
    Am J Med Genet; 1995 Apr; 56(3):296-9. PubMed ID: 7778594
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly.
    Luo H; Xie L; Wang SZ; Chen JL; Huang C; Wang J; Yang JF; Zhang WZ; Yang YF; Tan ZP
    Eur J Med Genet; 2012 Nov; 55(11):646-9. PubMed ID: 22902603
    [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. De novo complete trisomy 5p: clinical and neuroradiological findings.
    Grosso S; Cioni M; Garibaldi G; Pucci L; Galluzzi P; Canapicchi R; Morgese G; Balestri P
    Am J Med Genet; 2002 Sep; 112(1):56-60. PubMed ID: 12239721
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.