BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 19638688)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Heterozygous
    Li X; Xiao X; Li S; Ouyang J; Sun W; Liu X; Zhang Q
    Mol Vis; 2021; 27():309-322. PubMed ID: 34035645
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.
    Hu Y; Chen IP; de Almeida S; Tiziani V; Do Amaral CM; Gowrishankar K; Passos-Bueno MR; Reichenberger EJ
    PLoS One; 2013; 8(8):e73576. PubMed ID: 23951358
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene.
    Hayashi R; Bito T; Taniguchi-Ikeda M; Farooq M; Ito M; Shimomura Y
    J Dermatol; 2014 Dec; 41(12):1109-10. PubMed ID: 25327171
    [No Abstract]   [Full Text] [Related]  

  • 12. Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families.
    Dwarakanathan A; Bhat M; Gn S; Shetty S
    Clin Dysmorphol; 2015 Oct; 24(4):159-62. PubMed ID: 26087145
    [No Abstract]   [Full Text] [Related]  

  • 13. Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review.
    Wang Z; Sun L; Wang P; Chen C; Zhang A; Wang W; Ding X
    Ophthalmic Genet; 2019 Feb; 40(1):54-59. PubMed ID: 30767687
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Novel mutations in GJA1 cause oculodentodigital syndrome.
    Fenwick A; Richardson RJ; Butterworth J; Barron MJ; Dixon MJ
    J Dent Res; 2008 Nov; 87(11):1021-6. PubMed ID: 18946008
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Genetic study of a pedigree affected with oculodentodigital dysplasia].
    Gu L; Zhu Y; Zhu X; Li J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Dec; 36(12):1191-1194. PubMed ID: 31813145
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.