BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 27758814)

  • 1. Unusual case of globe perforation: the brittle cornea without systemic manifestations.
    Joshi SA; Uppapalli S; More P; Deshpande M
    BMJ Case Rep; 2016 Oct; 2016():. PubMed ID: 27758814
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.
    Skalicka P; Porter LF; Brejchova K; Malinka F; Dudakova L; Liskova P
    Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2020 Jun; 164(2):183-188. PubMed ID: 31025659
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Surgical technique for the management of corneal perforation in brittle cornea.
    Matalia HP; Nandini C; Matalia J
    Indian J Ophthalmol; 2021 Sep; 69(9):2521-2523. PubMed ID: 34427257
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Brittle cornea syndrome: A tale of three brothers.
    Mandlik K; Betdur RA; Rashmita R; Narayana S
    Indian J Ophthalmol; 2022 Jul; 70(7):2594-2597. PubMed ID: 35791165
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Use of an onlay corneal lamellar graft for brittle cornea syndrome.
    Muthusamy K; Tuft S
    BMJ Case Rep; 2018 Aug; 2018():. PubMed ID: 30115710
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.
    Porter LF; Gallego-Pinazo R; Keeling CL; Kamieniorz M; Zoppi N; Colombi M; Giunta C; Bonshek R; Manson FD; Black GC
    Orphanet J Rare Dis; 2015 Nov; 10():145. PubMed ID: 26560304
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Penetrating keratoplasty in brittle Cornea syndrome: Case series and review of the literature.
    Incandela C; D'Oria F; Lapenna L; Acquaviva A
    Eur J Ophthalmol; 2024 Jan; 34(1):11-17. PubMed ID: 37073081
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Corneal ectasia associated with posterior lamellar opacification.
    Yung M; Chen AC; Chung DD; Barrington A; Zhang J; Frausto RF; Magalhaes OA; Aldave AJ
    Ophthalmic Genet; 2021 Aug; 42(4):486-492. PubMed ID: 34003075
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome.
    Micheal S; Khan MI; Islam F; Akhtar F; Qamar R; Tassignon MJ; Loeys B; den Hollander AI
    Cornea; 2016 Jun; 35(6):853-9. PubMed ID: 27032025
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Brittle cornea syndrome: a case report and review of the literature.
    Wan Q; Tang J; Han Y; Xiao Q; Deng Y
    BMC Ophthalmol; 2018 Sep; 18(1):252. PubMed ID: 30227830
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Brittle cornea syndrome type 1 caused by compound heterozygosity of two mutations in the ZNF469 gene].
    Menzel-Severing J; Meiller R; Kraus C; Trollmann R; Atalay D
    Ophthalmologe; 2019 Aug; 116(8):780-784. PubMed ID: 30338343
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Case report of a
    Selina A; John D; Loganathan L; Madhuri V
    Indian J Ophthalmol; 2020 Nov; 68(11):2545-2547. PubMed ID: 33120686
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Corneal rupture management with amniotic membrane graft in a patient with Brittle cornea syndrome.
    Safae Z; Chraibi F; El Amine Filali C; Khodriss C; Bouanane A; Lachkham N; El Jazouli I; Abdellaoui M; Benatiya Andaloussi I
    J Fr Ophtalmol; 2021 Mar; 44(3):e173-e176. PubMed ID: 33485690
    [No Abstract]   [Full Text] [Related]  

  • 14. Identification of the novel SDR42E1 gene that affects steroid biosynthesis associated with the oculocutaneous genital syndrome.
    Bouhouche A; Albaroudi N; El Alaoui MA; Askander O; Habbadi Z; El Hassani A; Iraqi H; El Fahime E; Belmekki M
    Exp Eye Res; 2021 Aug; 209():108671. PubMed ID: 34133966
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Corneal Cross-Linking for Brittle Cornea Syndrome.
    Kaufmann C; Schubiger G; Thiel MA
    Cornea; 2015 Oct; 34(10):1326-8. PubMed ID: 26266434
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Ocular abnormalieis associated with cutaneous hyperelasticity and joint hypermobility. A report of three observations].
    Skiker H; Ibrahimy W; Boutimzine N; Laghmari M; Benharbit M; Tnacheri Ouazani B; Daoudi R
    Bull Soc Belge Ophtalmol; 2008; (308):15-9. PubMed ID: 18700450
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Spontaneous corneal perforation associated with atopic keratoconjunctivitis: a case series and literature review.
    Nivenius E; Montan P
    Acta Ophthalmol; 2015 Jun; 93(4):383-7. PubMed ID: 25682856
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Tectonic Graft for Persistent Leakage and Visual Outcome After Corneal Perforation Repair: A Case Series.
    Rana RS; Bajracharya L; Gurung R
    JNMA J Nepal Med Assoc; 2020 Sep; 58(229):696-698. PubMed ID: 33068094
    [TBL] [Abstract][Full Text] [Related]  

  • 19. More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.
    Dhooge T; Van Damme T; Syx D; Mosquera LM; Nampoothiri S; Radhakrishnan A; Simsek-Kiper PO; Utine GE; Bonduelle M; Migeotte I; Essawi O; Ceylaner S; Al Kindy A; Tinkle B; Symoens S; Malfait F
    Hum Mutat; 2021 Jun; 42(6):711-730. PubMed ID: 33739556
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers.
    Arce-González R; Chacon-Camacho OF; Ordoñez-Labastida V; Graue-Hernandez EO; Navas-Pérez A; Zenteno JC
    Int Ophthalmol; 2023 Mar; 43(3):807-815. PubMed ID: 36048286
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.