BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

180 related articles for article (PubMed ID: 23337768)

  • 1. A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.
    Poirsier-Violle C; Abourra A; Baumann C; Perrin L; Capri Y; Mignot C; Passemard S; Drunat S; Verloes A
    Eur J Med Genet; 2013 Apr; 56(4):226-8. PubMed ID: 23337768
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features.
    Kirchhoff M; Bisgaard AM; Duno M; Hansen FJ; Schwartz M
    Eur J Med Genet; 2007; 50(4):256-63. PubMed ID: 17576104
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.
    Gandomi SK; Parra M; Reeves D; Yap V; Gau CL
    Clin Genet; 2015; 87(1):80-4. PubMed ID: 24266672
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.
    Rooryck C; Burgelin I; Stef M; Taine L; Thambo JB; Lacombe D; Arveiler B
    Eur J Med Genet; 2008; 51(1):74-80. PubMed ID: 18024240
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.
    Kemeny S; Pebrel-Richard C; Eymard-Pierre E; Gay-Bellile M; Gouas L; Goumy C; Tchirkov A; Francannet C; Vago P
    Eur J Med Genet; 2014 Oct; 57(10):552-7. PubMed ID: 25106685
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis.
    Lukusa T; Fryns JP
    Genet Couns; 2010; 21(1):25-34. PubMed ID: 20420026
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay.
    Andrieux J; Richebourg S; Duban-Bedu B; Petit F; Leprêtre F; Sukno S; Dehouck MB; Delobel B
    Eur J Med Genet; 2008; 51(4):373-81. PubMed ID: 18463015
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.
    Kuroda Y; Ohashi I; Tominaga M; Saito T; Nagai J; Ida K; Naruto T; Masuno M; Kurosawa K
    Am J Med Genet A; 2014 Jun; 164A(6):1550-4. PubMed ID: 24668897
    [TBL] [Abstract][Full Text] [Related]  

  • 10. DYRK1A mutations in two unrelated patients.
    Ruaud L; Mignot C; Guët A; Ohl C; Nava C; Héron D; Keren B; Depienne C; Benoit V; Maystadt I; Lederer D; Amsallem D; Piard J
    Eur J Med Genet; 2015 Mar; 58(3):168-74. PubMed ID: 25641759
    [TBL] [Abstract][Full Text] [Related]  

  • 11. MICROARRAY DELINEATION OF DE NOVO DUPLICATION 1q32q42 IN A CHILD SHOWING MULTIPLE ANOMALIES AND DYSMORPHISM.
    Gorukmez O; Aydin H; Gorukmez O; Sag SO; Kucukcongar A; Celayir FM
    Genet Couns; 2015; 26(2):181-6. PubMed ID: 26349187
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.
    Preiksaitiene E; Männik K; Dirse V; Utkus A; Ciuladaite Z; Kasnauskiene J; Kurg A; Kučinskas V
    Eur J Med Genet; 2012 Nov; 55(11):656-9. PubMed ID: 22842074
    [TBL] [Abstract][Full Text] [Related]  

  • 13. De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.
    Lin DS; Chuang TP; Chiang MF; Ho CS; Hsiao CD; Huang YW; Wu TY; Wu JY; Chen YT; Chen TC; Li LH
    Gene; 2014 Jan; 533(1):78-85. PubMed ID: 24129071
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3-->q31.3).
    Jeziorowska A; Ciesla W; Houck GE; Yao XL; Harris MS; Truszczak B; Skorski M; Jakubowski L; Jenkins EC; Kaluzewski B
    Am J Med Genet; 1993 Apr; 46(1):83-7. PubMed ID: 7684191
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies.
    Caselli R; Ballarati L; Selicorni A; Milani D; Maitz S; Valtorta C; Larizza L; Giardino D
    Eur J Med Genet; 2010; 53(5):325-8. PubMed ID: 20621612
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.
    El Chehadeh-Djebbar S; Callier P; Masurel-Paulet A; Bensignor C; Méjean N; Payet M; Ragon C; Durand C; Marle N; Mosca-Boidron AL; Huet F; Mugneret F; Faivre L; Thauvin-Robinet C
    Eur J Med Genet; 2011; 54(3):369-73. PubMed ID: 21397059
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A Novel 1.13 Mb Interstitial Duplication at 19q13.32 Causing Developmental Delay and Microcephaly in a Pediatric Patient: the First Asian Case Reports.
    Rim JH; Kim JA; Yoo J
    Yonsei Med J; 2017 Nov; 58(6):1241-1244. PubMed ID: 29047251
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Two new de novo interstitial duplications covering 2p14-p22.1: clinical and molecular analysis.
    Kasnauskiene J; Cimbalistiene L; Utkus A; Ciuladaite Z; Preiksaitiene E; Pečiulytė A; Kučinskas V
    Cytogenet Genome Res; 2013; 139(1):52-8. PubMed ID: 23036992
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum.
    Natacci F; Alfei E; Tararà L; D'Arrigo S; Zuffardi O; Gentilin B; Pantaleoni C
    Eur J Paediatr Neurol; 2016 Jan; 20(1):183-7. PubMed ID: 26565673
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.