BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

307 related articles for article (PubMed ID: 17509830)

  • 1. Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene.
    van Es RJ; Wittebol-Post D; Beemer FA
    Int J Oral Maxillofac Surg; 2007 Sep; 36(9):858-60. PubMed ID: 17509830
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.
    Jamsheer A; Sowińska-Seidler A; Socha M; Stembalska A; Kiraly-Borri C; Latos-Bieleńska A
    Gene; 2014 Apr; 539(1):157-61. PubMed ID: 24508941
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia.
    Flenniken AM; Osborne LR; Anderson N; Ciliberti N; Fleming C; Gittens JE; Gong XQ; Kelsey LB; Lounsbury C; Moreno L; Nieman BJ; Peterson K; Qu D; Roscoe W; Shao Q; Tong D; Veitch GI; Voronina I; Vukobradovic I; Wood GA; Zhu Y; Zirngibl RA; Aubin JE; Bai D; Bruneau BG; Grynpas M; Henderson JE; Henkelman RM; McKerlie C; Sled JG; Stanford WL; Laird DW; Kidder GM; Adamson SL; Rossant J
    Development; 2005 Oct; 132(19):4375-86. PubMed ID: 16155213
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).
    Debeer P; Van Esch H; Huysmans C; Pijkels E; De Smet L; Van de Ven W; Devriendt K; Fryns JP
    Eur J Med Genet; 2005; 48(4):377-87. PubMed ID: 16378922
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43).
    Musa FU; Ratajczak P; Sahu J; Pentlicky S; Fryer A; Richard G; Willoughby CE
    Eye (Lond); 2009 Mar; 23(3):549-55. PubMed ID: 18425059
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging.
    Alao MJ; Bonneau D; Holder-Espinasse M; Goizet C; Manouvrier-Hanu S; Mezel A; Petit F; Subtil D; Magdelaine C; Lacombe D
    Eur J Med Genet; 2010; 53(1):19-22. PubMed ID: 19808103
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features.
    de la Parra DR; Zenteno JC
    Ophthalmic Genet; 2007 Dec; 28(4):198-202. PubMed ID: 18161618
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family.
    Amador C; Mathews AM; Del Carmen Montoya M; Laughridge ME; Everman DB; Holden KR
    J Child Neurol; 2008 Aug; 23(8):901-5. PubMed ID: 18660473
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and a sibling.
    Aminabadi NA; Ganji AT; Vafaei A; Pourkazemi M; Oskouei SG
    J Clin Pediatr Dent; 2009; 33(4):337-41. PubMed ID: 19725242
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia.
    Vasconcellos JP; Melo MB; Schimiti RB; Bressanim NC; Costa FF; Costa VP
    Arch Ophthalmol; 2005 Oct; 123(10):1422-6. PubMed ID: 16219735
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly.
    Vitiello C; D'Adamo P; Gentile F; Vingolo EM; Gasparini P; Banfi S
    Am J Med Genet A; 2005 Feb; 133A(1):58-60. PubMed ID: 15637728
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.
    Jamsheer A; Wisniewska M; Szpak A; Bugaj G; Krawczynski MR; Budny B; Wawrocka A; Latos-Bieleńska A
    J Appl Genet; 2009; 50(3):297-9. PubMed ID: 19638688
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Oculodentodigital dysplasia with massive brain calcification and a new mutation of GJA1 gene.
    Tumminelli G; Di Donato I; Guida V; Rufa A; De Luca A; Federico A
    J Alzheimers Dis; 2016; 49(1):27-30. PubMed ID: 26444782
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel.
    Porntaveetus T; Srichomthong C; Ohazama A; Suphapeetiporn K; Shotelersuk V
    Oral Dis; 2017 Sep; 23(6):795-800. PubMed ID: 28258662
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels.
    Dobrowolski R; Sommershof A; Willecke K
    J Membr Biol; 2007 Oct; 219(1-3):9-17. PubMed ID: 17687502
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia.
    Kozoriz MG; Lai S; Vega JL; Sáez JC; Sin WC; Bechberger JF; Naus CC
    Neuropharmacology; 2013 Dec; 75():549-56. PubMed ID: 23727526
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Congenital heart defects in oculodentodigital dysplasia: Report of two cases.
    Izumi K; Lippa AM; Wilkens A; Feret HA; McDonald-McGinn DM; Zackai EH
    Am J Med Genet A; 2013 Dec; 161A(12):3150-4. PubMed ID: 24115525
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature.
    Taşdelen E; Durmaz CD; Karabulut HG
    Cytogenet Genome Res; 2018; 154(4):181-186. PubMed ID: 29902798
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Gene symbol: GJA1. Disease: oculodentodigital dysplasia.
    Pontillo A; Flex E; Miertus J
    Hum Genet; 2005 Feb; 116(3):235. PubMed ID: 15818811
    [No Abstract]   [Full Text] [Related]  

  • 20. Oculodentodigital Dysplasia with a Novel Mutation in
    Choi J; Yang A; Song A; Lim M; Kim J; Jang JH; Park KT; Cho S; Jin DK
    Ann Clin Lab Sci; 2018 Nov; 48(6):776-781. PubMed ID: 30610049
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.