BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

190 related articles for article (PubMed ID: 20215058)

  • 1. Delineation of a recognisable phenotype of interstitial deletion 3 (q22.3q25.1) in a case with previously unreported truncus arteriosus.
    Rea G; McCullough S; McNerlan S; Craig B; Morrison PJ
    Eur J Med Genet; 2010; 53(3):162-7. PubMed ID: 20215058
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.
    Moortgat S; Verellen-Dumoulin C; Maystadt I; Parmentier B; Grisart B; Hennecker JL; Destree A
    Eur J Med Genet; 2011; 54(2):177-80. PubMed ID: 21167329
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay.
    Wincent J; Schoumans J; Anderlid BM
    Eur J Med Genet; 2010; 53(1):50-3. PubMed ID: 19857611
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): a putative gene responsible for microcephaly close to the BPES gene?
    Ishikiriyama S; Goto M
    Am J Med Genet; 1993 Sep; 47(4):487-9. PubMed ID: 8256811
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23.
    Jewett T; Rao PN; Weaver RG; Stewart W; Thomas IT; Pettenati MJ
    Am J Med Genet; 1993 Dec; 47(8):1147-50. PubMed ID: 8291545
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25).
    González-González C; García-Hoyos M; Hernaez Calzón R; Arroyo Díaz C; González Fanego C; Lorda Sánchez I; Sánchez-Escribano F
    Ophthalmic Genet; 2012 Jun; 33(2):107-10. PubMed ID: 22171663
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype.
    Alvarado M; Bocian M; Walker AP
    Am J Med Genet; 1987 Aug; 27(4):781-6. PubMed ID: 3122568
    [TBL] [Abstract][Full Text] [Related]  

  • 9. De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay.
    Lim BC; Park WY; Seo EJ; Kim KJ; Hwang YS; Chae JH
    J Child Neurol; 2011 May; 26(5):615-8. PubMed ID: 21471554
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.
    Giannikou K; Fryssira H; Oikonomakis V; Syrmou A; Kosma K; Tzetis M; Kitsiou-Tzeli S; Kanavakis E
    Gene; 2012 Sep; 506(2):360-8. PubMed ID: 22766398
    [TBL] [Abstract][Full Text] [Related]  

  • 11. An emerging phenotype of proximal 11q deletions.
    Melis D; Genesio R; Cozzolino M; Del Giudice E; Mormile A; Imperati F; Ronga V; Della Casa R; Nitsch L; Andria G
    Eur J Med Genet; 2010; 53(5):340-3. PubMed ID: 20688202
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.
    Klein OD; Cotter PD; Moore MW; Zanko A; Gilats M; Epstein CJ; Conte F; Rauen KA
    Clin Genet; 2007 Mar; 71(3):260-6. PubMed ID: 17309649
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33).
    Kato Z; Morimoto W; Kimura T; Matsushima A; Kondo N
    Birth Defects Res A Clin Mol Teratol; 2010 Feb; 88(2):132-5. PubMed ID: 19813260
    [TBL] [Abstract][Full Text] [Related]  

  • 14. De novo deletion of 1q31.1-q32.1 in a patient with developmental delay and behavioral disorders.
    Milani D; Bedeschi MF; Iascone M; Chiarelli G; Cerutti M; Menni F
    Cytogenet Genome Res; 2012; 136(3):167-70. PubMed ID: 22398643
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.
    Lespinasse J; Gimelli S; Béna F; Antonarakis SE; Ansermet F; Paoloni-Giacobino A
    Eur J Med Genet; 2009; 52(1):49-52. PubMed ID: 18992376
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
    Kang SH; Scheffer A; Ou Z; Li J; Scaglia F; Belmont J; Lalani SR; Roeder E; Enciso V; Braddock S; Buchholz J; Vacha S; Chinault AC; Cheung SW; Bacino CA
    Clin Genet; 2007 Oct; 72(4):329-38. PubMed ID: 17850629
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).
    Lalani SR; Sahoo T; Sanders ME; Peters SU; Bejjani BA
    BMC Med Genet; 2006 Feb; 7():8. PubMed ID: 16472378
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Esophageal stenosis in a child presenting a de novo 7q terminal deletion.
    Zen PR; Riegel M; Rosa RF; Pinto LL; Graziadio C; Schwartz IV; Paskulin GA
    Eur J Med Genet; 2010; 53(5):333-6. PubMed ID: 20601258
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.