131 related articles for article (PubMed ID: 37073081)
1. 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]
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. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. [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]
10. Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome.
Sklar BA; Pisuchpen P; Bareket M; Milman T; Eagle RC; Minor J; Procopio R; Capasso J; Levin AV; Hammersmith K
Cornea; 2023 Dec; 42(12):1572-1577. PubMed ID: 37713669
[TBL] [Abstract][Full Text] [Related]
11. Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome.
Rolvien T; Kornak U; Linke SJ; Amling M; Oheim R
Calcif Tissue Int; 2020 Sep; 107(3):294-299. PubMed ID: 32671420
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. Brittle cornea syndrome: recognition, molecular diagnosis and management.
Burkitt Wright EM; Porter LF; Spencer HL; Clayton-Smith J; Au L; Munier FL; Smithson S; Suri M; Rohrbach M; Manson FD; Black GC
Orphanet J Rare Dis; 2013 May; 8():68. PubMed ID: 23642083
[TBL] [Abstract][Full Text] [Related]
18. Case Series of Brittle Cornea Syndrome.
Eleiwa T; Raheem M; Patel NA; Berrocal AM; Grajewski A; Abou Shousha M
Case Rep Ophthalmol Med; 2020; 2020():4381273. PubMed ID: 32257481
[TBL] [Abstract][Full Text] [Related]
19. [Surgical treatment of keratoglobus: key techniques of bridge-shaped flap penetrating keratoplasty and whole lamellar keratoplasty with corneoscleral limbal].
Cheng J; Zhai HL; Wang JY; Dong YL; Wang S; Cong L; Xie LX
Zhonghua Yan Ke Za Zhi; 2019 Dec; 55(12):916-922. PubMed ID: 31874505
[No Abstract] [Full Text] [Related]
20. Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome.
Micheal S; Siddiqui SN; Zafar SN; Gabriëla Niewold IT; Khan MI; Bergen AAB
Cornea; 2019 Jun; 38(6):718-722. PubMed ID: 30865045
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
