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.
138 related articles for article (PubMed ID: 28677912)
21. A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy. Kniestedt C; Taralczak M; Thiel MA; Stuermer J; Baumer A; Gloor BP Ophthalmology; 2006 Oct; 113(10):1791.e1-8. PubMed ID: 16876867 [TBL] [Abstract][Full Text] [Related]
22. Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India. Komatireddy S; Chakrabarti S; Mandal AK; Reddy AB; Sampath S; Panicker SG; Balasubramanian D Mol Vis; 2003 Feb; 9():43-8. PubMed ID: 12592227 [TBL] [Abstract][Full Text] [Related]
23. Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes. Koparir A; Karatas OF; Yilmaz SS; Suer I; Ozer B; Yuceturk B; Ozen M Am J Med Genet A; 2019 Apr; 179(4):579-587. PubMed ID: 30730599 [TBL] [Abstract][Full Text] [Related]
24. Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants. Kousal B; Dudakova L; Gaillyova R; Hejtmankova M; Diblik P; Michaelides M; Liskova P Graefes Arch Clin Exp Ophthalmol; 2016 Sep; 254(9):1833-9. PubMed ID: 27113771 [TBL] [Abstract][Full Text] [Related]
25. Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? Gumus E Ophthalmic Genet; 2018 Jun; 39(3):391-395. PubMed ID: 29419336 [TBL] [Abstract][Full Text] [Related]
26. 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]
28. Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C). Khan AO; Aldahmesh MA; Meyer B Am J Ophthalmol; 2007 Dec; 144(6):949-952. PubMed ID: 17937925 [TBL] [Abstract][Full Text] [Related]
29. Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. Rødahl E; Knappskog PM; Majewski J; Johansson S; Telstad W; Kråkenes J; Boman H Am J Ophthalmol; 2013 May; 155(5):946-53. PubMed ID: 23394911 [TBL] [Abstract][Full Text] [Related]
30. Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family. Ritter M; Vodopiutz J; Lechner S; Moser E; Schmidt-Erfurth UM; Janecke AR Br J Ophthalmol; 2013 Feb; 97(2):169-73. PubMed ID: 23143909 [TBL] [Abstract][Full Text] [Related]
35. Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature. Quiroz-Casian N; Chacon-Camacho OF; Barragan-Arevalo T; Nava-Valdez J; Lieberman E; Salgado-Medina A; Navas A; Graue-Hernandez EO; Zenteno JC Cornea; 2018 Sep; 37(9):1178-1181. PubMed ID: 29878917 [TBL] [Abstract][Full Text] [Related]
36. Autosomal dominant cornea plana: clinical findings in a Cuban family and a review of the literature. Sigler-Villanueva A; Tahvanainen E; Lindh S; Dieguez-Lucena J; Forsius H Ophthalmic Genet; 1997 Jun; 18(2):55-62. PubMed ID: 9228241 [TBL] [Abstract][Full Text] [Related]
37. Transforming growth factor beta receptor 2 (Tgfbr2) deficiency in keratocytes results in corneal ectasia. Wang YC; Zolnik OB; Yasoda S; Yeh LK; Yuan Y; Kao W; Saika S; Liu CY Ocul Surf; 2023 Jul; 29():557-565. PubMed ID: 37393064 [TBL] [Abstract][Full Text] [Related]