BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

226 related articles for article (PubMed ID: 18161618)

  • 1. 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]  

  • 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. 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]  

  • 4. A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis.
    Kelly SC; Ratajczak P; Keller M; Purcell SM; Griffin T; Richard G
    Eur J Dermatol; 2006; 16(3):241-5. PubMed ID: 16709485
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.
    Pizzuti A; Flex E; Mingarelli R; Salpietro C; Zelante L; Dallapiccola B
    Hum Mutat; 2004 Mar; 23(3):286. PubMed ID: 14974090
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia.
    Shibayama J; Paznekas W; Seki A; Taffet S; Jabs EW; Delmar M; Musa H
    Circ Res; 2005 May; 96(10):e83-91. PubMed ID: 15879313
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43.
    Kogame T; Dainichi T; Shimomura Y; Tanioka M; Kabashima K; Miyachi Y
    J Dermatol; 2014 Dec; 41(12):1095-7. PubMed ID: 25388818
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits.
    Furuta N; Ikeda M; Hirayanagi K; Fujita Y; Amanuma M; Okamoto K
    Intern Med; 2012; 51(1):93-8. PubMed ID: 22214631
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cleft lip in oculodentodigital dysplasia suggests novel roles for connexin43.
    Amano K; Ishiguchi M; Aikawa T; Kimata M; Kishi N; Fujimaki T; Murakami A; Kogo M
    J Dent Res; 2012 Jul; 91(7 Suppl):38S-44S. PubMed ID: 22699666
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.
    Brice G; Ostergaard P; Jeffery S; Gordon K; Mortimer PS; Mansour S
    Clin Genet; 2013 Oct; 84(4):378-81. PubMed ID: 23550541
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Two novel GJA1 variants in oculodentodigital dysplasia.
    Pace NP; Benoit V; Agius D; Grima MA; Parascandalo R; Hilbert P; Borg I
    Mol Genet Genomic Med; 2019 Sep; 7(9):e882. PubMed ID: 31347275
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and genetic variability of oculodentodigital dysplasia.
    Wiest T; Herrmann O; Stögbauer F; Grasshoff U; Enders H; Koch MJ; Grond-Ginsbach C; Schwaninger M
    Clin Genet; 2006 Jul; 70(1):71-2. PubMed ID: 16813608
    [No Abstract]   [Full Text] [Related]  

  • 19. 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]  

  • 20. Clinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family.
    Park DY; Cho SY; Jin DK; Kee C
    J Glaucoma; 2019 Apr; 28(4):357-362. PubMed ID: 30628995
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.