BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 17256797)

  • 1. Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43.
    Vreeburg M; de Zwart-Storm EA; Schouten MI; Nellen RG; Marcus-Soekarman D; Devies M; van Geel M; van Steensel MA
    Am J Med Genet A; 2007 Feb; 143(4):360-3. PubMed ID: 17256797
    [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 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma.
    van Steensel MA; Spruijt L; van der Burgt I; Bladergroen RS; Vermeer M; Steijlen PM; van Geel M
    Am J Med Genet A; 2005 Jan; 132A(2):171-4. PubMed ID: 15551259
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair.
    Kjaer KW; Hansen L; Eiberg H; Leicht P; Opitz JM; Tommerup N
    Am J Med Genet A; 2004 Jun; 127A(2):152-7. PubMed ID: 15108203
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Oculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations.
    Hadjichristou C; Christophidou-Anastasiadou V; Bakopoulou A; Tanteles GA; Loizidou MA; Kyriacou K; Hadjisavvas A; Michalakis K; Pissiotis A; Koidis P
    Int J Prosthodont; 2017; 30(3):280–285. PubMed ID: 28319210
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. OCULO-DENTO-DIGITAL DYSPLASIA IN A TUNISIAN FAMILY WITH A NOVEL GJA1 MUTATION.
    Attig A; Trabelsi M; Hizem S; Ben Jemaa L; Maazoul F; Chaouachi S; Mrad R
    Genet Couns; 2016; 27(3):433-439. PubMed ID: 30204976
    [No Abstract]   [Full Text] [Related]  

  • 13. 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]  

  • 14. Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma.
    Gong XQ; Shao Q; Lounsbury CS; Bai D; Laird DW
    J Biol Chem; 2006 Oct; 281(42):31801-11. PubMed ID: 16891658
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia.
    Duchatelet S; Hovnanian A
    J Invest Dermatol; 2015 Jun; 135(6):1475-1478. PubMed ID: 25964267
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.