These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

212 related articles for article (PubMed ID: 32318302)

  • 1. Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.
    Kumar V; Couser NL; Pandya A
    Case Rep Ophthalmol Med; 2020; 2020():6535974. PubMed ID: 32318302
    [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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Effects of reduced connexin43 function on skull development in the Cx43
    Jarvis SE; Lee JE; Jewlal E; Barr K; Kelly GM; Laird DW; Willmore KE
    Bone; 2020 Jul; 136():115365. PubMed ID: 32320893
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
    Paznekas WA; Karczeski B; Vermeer S; Lowry RB; Delatycki M; Laurence F; Koivisto PA; Van Maldergem L; Boyadjiev SA; Bodurtha JN; Jabs EW
    Hum Mutat; 2009 May; 30(5):724-33. PubMed ID: 19338053
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia.
    Machado RA; Júnior HM; Ferreira SBP; Leão LL; Coletta RD; Aguiar MJB
    Oral Surg Oral Med Oral Pathol Oral Radiol; 2023 Jan; 135(1):96-100. PubMed ID: 36396593
    [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. Ocular pathology relevant to glaucoma in a Gja1(Jrt/+) mouse model of human oculodentodigital dysplasia.
    Tsui E; Hill KA; Laliberte AM; Paluzzi D; Kisilevsky I; Shao Q; Heathcote JG; Laird DW; Kidder GM; Hutnik CM
    Invest Ophthalmol Vis Sci; 2011 Jun; 52(6):3539-47. PubMed ID: 21273537
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Neurological presentations of oculodentodigital dysplasia].
    Rudenskaya GE; Dyomina NA; Bliznetz EA; Khlebnikova OV; Dadaly EL; Polyakov AV
    Zh Nevrol Psikhiatr Im S S Korsakova; 2018; 118(5):85-91. PubMed ID: 29927410
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.