BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

95 related articles for article (PubMed ID: 19733267)

  • 1. 2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.
    Rooryck C; Stef M; Burgelin I; Simon D; Souakri N; Thambo JB; Chateil JF; Lacombe D; Arveiler B
    Eur J Med Genet; 2009; 52(6):446-9. PubMed ID: 19733267
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay.
    Abdelmoity AT; Hall JJ; Bittel DC; Yu S
    Eur J Med Genet; 2011; 54(2):198-203. PubMed ID: 21144913
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.
    Brun A; Cailley D; Toutain J; Bouron J; Arveiler B; Lacombe D; Goizet C; Rooryck C
    Eur J Med Genet; 2012 Feb; 55(2):135-9. PubMed ID: 22198201
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Thrombophilia gene mutations in oculoauriculovertebral spectrum.
    Tug E; Atasoy HI; Koybasi Sanal S
    Genet Couns; 2012; 23(1):65-72. PubMed ID: 22611644
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two neighboring microdeletions of 5q13.2 in a child with oculo-auriculo-vertebral spectrum.
    Huang XS; Xiao L; Li X; Xie Y; Jiang HO; Tan C; Wang L; Zhang JX
    Eur J Med Genet; 2010; 53(3):153-8. PubMed ID: 20346424
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q).
    Herman GE; Greenberg F; Ledbetter DH
    Am J Med Genet; 1988 Apr; 29(4):909-15. PubMed ID: 3400736
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 7q21.11 Microdeletion in a Neonate With Goldenhar Syndrome: Case Report and a Literature Review.
    Puvabanditsin S; February M; Francois L; Garrow E; Bruno C; Mehta R
    Cleft Palate Craniofac J; 2016 Mar; 53(2):249-52. PubMed ID: 26068384
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis.
    Shetty S; Boycott KM; Gillan TL; Bowser K; Parboosingh JS; McInnes B; Chernos JE; Bernier FP
    Clin Dysmorphol; 2007 Oct; 16(4):253-6. PubMed ID: 17786117
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder.
    Lukusa T; Vermeesch JR; Holvoet M; Fryns JP; Devriendt K
    Genet Couns; 2004; 15(3):293-301. PubMed ID: 15517821
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.
    Harvard C; Malenfant P; Koochek M; Creighton S; Mickelson EC; Holden JJ; Lewis ME; Rajcan-Separovic E
    Clin Genet; 2005 Apr; 67(4):341-51. PubMed ID: 15733271
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Goldenhar syndrome (oculoauriculovertebral dysplasia): report of one case.
    Ng YY; Hu JM; Su PH; Chen JY; Yang MS; Chen SJ
    Acta Paediatr Taiwan; 2006; 47(3):142-5. PubMed ID: 17078468
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.
    Ballesta-Martínez MJ; López-González V; Dulcet LA; Rodríguez-Santiago B; Garcia-Miñaúr S; Guillen-Navarro E
    Am J Med Genet A; 2013 Aug; 161A(8):2030-5. PubMed ID: 23794319
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype.
    Colovati ME; Bragagnolo S; Guilherme RS; Dantas AG; Soares MF; Kim CA; Perez AB; Melaragno MI
    Cytogenet Genome Res; 2015; 147(2-3):130-4. PubMed ID: 26919065
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and cytogenomic findings in OAV spectrum.
    Bragagnolo S; Colovati MES; Souza MZ; Dantas AG; F de Soares MF; Melaragno MI; Perez AB
    Am J Med Genet A; 2018 Mar; 176(3):638-648. PubMed ID: 29368383
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A physical, transcript, and deletion map of chromosome region 12p12.3 flanked by ETV6 and CDKN1B: hypermethylation of the LRP6 CpG island in two leukemia patients with hemizygous del(12p).
    Baens M; Wlodarska I; Corveleyn A; Hoornaert I; Hagemeijer A; Marynen P
    Genomics; 1999 Feb; 56(1):40-50. PubMed ID: 10036184
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum.
    Fischer S; Lüdecke HJ; Wieczorek D; Böhringer S; Gillessen-Kaesbach G; Horsthemke B
    Hum Mol Genet; 2006 Feb; 15(4):581-7. PubMed ID: 16407370
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.
    Delahaye A; Toutain A; Aboura A; Dupont C; Tabet AC; Benzacken B; Elion J; Verloes A; Pipiras E; Drunat S
    Eur J Med Genet; 2009; 52(5):328-32. PubMed ID: 19454329
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.
    Flipsen-ten Berg K; van Hasselt PM; Eleveld MJ; van der Wijst SE; Hol FA; de Vroede MA; Beemer FA; Hochstenbach PF; Poot M
    Eur J Hum Genet; 2007 Nov; 15(11):1132-8. PubMed ID: 17637805
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A 4.5 Mb terminal deletion of chromosome 12p helps further define a psychosis-associated locus.
    Vargas H; Beldia G; Korosh W; Sudhalter V; Iqbal A; Sanchez-Lacay JA; Velinov M
    Eur J Med Genet; 2012 Oct; 55(10):573-6. PubMed ID: 22669037
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.
    Tasse C; Böhringer S; Fischer S; Lüdecke HJ; Albrecht B; Horn D; Janecke A; Kling R; König R; Lorenz B; Majewski F; Maeyens E; Meinecke P; Mitulla B; Mohr C; Preischl M; Umstadt H; Kohlhase J; Gillessen-Kaesbach G; Wieczorek D
    Eur J Med Genet; 2005; 48(4):397-411. PubMed ID: 16378924
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.