BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 20648051)

  • 1. Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.
    Kantaputra PN; Klopocki E; Hennig BP; Praphanphoj V; Le Caignec C; Isidor B; Kwee ML; Shears DJ; Mundlos S
    Eur J Hum Genet; 2010 Dec; 18(12):1310-4. PubMed ID: 20648051
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al.
    Kantaputra PN
    Am J Med Genet A; 2004 Jul; 128A(1):1-5. PubMed ID: 15211646
    [No Abstract]   [Full Text] [Related]  

  • 3. A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.
    Cho TJ; Kim OH; Choi IH; Nishimura G; Superti-Furga A; Kim KS; Lee YJ; Park WY
    J Med Genet; 2010 Sep; 47(9):638-9. PubMed ID: 20577005
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects.
    Spitz F; Montavon T; Monso-Hinard C; Morris M; Ventruto ML; Antonarakis S; Ventruto V; Duboule D
    Genomics; 2002 Apr; 79(4):493-8. PubMed ID: 11944980
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.
    Ghoumid J; Andrieux J; Sablonnière B; Odent S; Philippe N; Zanlonghi X; Saugier-Veber P; Bardyn T; Manouvrier-Hanu S; Holder-Espinasse M
    Eur J Hum Genet; 2011 Nov; 19(11):1198-201. PubMed ID: 21654727
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.
    Le Caignec C; Pichon O; Briand A; de Courtivron B; Bonnard C; Lindenbaum P; Redon R; Schluth-Bolard C; Diguet F; Rollat-Farnier PA; Sanchez-Castro M; Vuillaume ML; Sanlaville D; Duboule D; Mégarbané A; Toutain A
    Eur J Hum Genet; 2020 Mar; 28(3):324-332. PubMed ID: 31591517
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A unique phenotype of 2q24.3-2q32.1 duplication: early infantile epileptic encephalopathy without mesomelic dysplasia.
    Lim BC; Min BJ; Park WY; Oh SK; Woo MJ; Choi JS; Kim KJ; Hwang YS; Chae JH
    J Child Neurol; 2014 Feb; 29(2):260-4. PubMed ID: 23456534
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Kantaputra mesomelic dysplasia: a second reported family.
    Shears DJ; Offiah A; Rutland P; Sirimanna T; Bitner-Glindzicz M; Hall C
    Am J Med Genet A; 2004 Jul; 128A(1):6-11. PubMed ID: 15211647
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.
    Fujimoto M; Kantaputra PN; Ikegawa S; Fukushima Y; Sonta S; Matsuo M; Ishida T; Matsumoto T; Kondo S; Tomita H; Deng HX; D'urso M; Rinaldi MM; Ventruto V; Takagi T; Nakamura Y; Niikawa N
    J Hum Genet; 1998; 43(1):32-6. PubMed ID: 9609995
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mesomelic dysplasias associated with the HOXD locus are caused by regulatory reallocations.
    Bolt CC; Lopez-Delisle L; Mascrez B; Duboule D
    Nat Commun; 2021 Aug; 12(1):5013. PubMed ID: 34408147
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Ulnaless (Ul), a regulatory mutation inducing both loss-of-function and gain-of-function of posterior Hoxd genes.
    Hérault Y; Fraudeau N; Zákány J; Duboule D
    Development; 1997 Sep; 124(18):3493-500. PubMed ID: 9342042
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Breakpoints around the HOXD cluster result in various limb malformations.
    Dlugaszewska B; Silahtaroglu A; Menzel C; Kübart S; Cohen M; Mundlos S; Tümer Z; Kjaer K; Friedrich U; Ropers HH; Tommerup N; Neitzel H; Kalscheuer VM
    J Med Genet; 2006 Feb; 43(2):111-8. PubMed ID: 15980115
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The mouse Ulnaless mutation deregulates posterior HoxD gene expression and alters appendicular patterning.
    Peichel CL; Prabhakaran B; Vogt TF
    Development; 1997 Sep; 124(18):3481-92. PubMed ID: 9342041
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.
    Flöttmann R; Wagner J; Kobus K; Curry CJ; Savarirayan R; Nishimura G; Yasui N; Spranger J; Van Esch H; Lyons MJ; DuPont BR; Dwivedi A; Klopocki E; Horn D; Mundlos S; Spielmann M
    J Med Genet; 2015 Jul; 52(7):476-83. PubMed ID: 26032025
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation.
    Kwee ML; van de Sluijs JA; van Vugt JM; Wijnaendts LC; Gille JJ
    Am J Med Genet A; 2004 Aug; 128A(4):404-9. PubMed ID: 15264287
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-->q32.1.
    Limongi MZ; Pelliccia F; Gaddini L; Rocchi A
    Cytogenet Cell Genet; 2000; 90(1-2):151-3. PubMed ID: 11060466
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Order of six loci at 2q24-q31 and orientation of the HOXD locus.
    Rossi E; Faiella A; Zeviani M; Labeit S; Floridia G; Brunelli S; Cammarata M; Boncinelli E; Zuffardi O
    Genomics; 1994 Nov; 24(1):34-40. PubMed ID: 7896287
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4.
    Steichen-Gersdorf E; Gassner I; Superti-Furga A; Ullmann R; Stricker S; Klopocki E; Mundlos S
    Clin Genet; 2008 Dec; 74(6):560-5. PubMed ID: 18616733
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with clinodactyly.
    Tsai LP; Liao HM; Chen YJ; Fang JS; Chen CH
    Clin Genet; 2009 May; 75(5):449-56. PubMed ID: 19459884
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A case of mesomelic dysplasia Kantaputra type--new findings and a new diagnostic approach.
    Siwicka KA; Kitoh H; Nishiyama M; Ishiguro N
    J Pediatr Orthop B; 2008 Sep; 17(5):271-6. PubMed ID: 19471182
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.