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.
4. Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. Davidson AE; Cheong SS; Hysi PG; Venturini C; Plagnol V; Ruddle JB; Ali H; Carnt N; Gardner JC; Hassan H; Gade E; Kearns L; Jelsig AM; Restori M; Webb TR; Laws D; Cosgrove M; Hertz JM; Russell-Eggitt I; Pilz DT; Hammond CJ; Tuft SJ; Hardcastle AJ PLoS One; 2014; 9(8):e104163. PubMed ID: 25093588 [TBL] [Abstract][Full Text] [Related]
5. Ocular Manifestations of Chordin-like 1 Knockout Mice. Chen D; Liu Y; Shu G; Chen C; Sullivan DA; Kam WR; Hann S; Fowler M; Warman ML Cornea; 2020 Sep; 39(9):1145-1150. PubMed ID: 32452990 [TBL] [Abstract][Full Text] [Related]
7. X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. Webb TR; Matarin M; Gardner JC; Kelberman D; Hassan H; Ang W; Michaelides M; Ruddle JB; Pennell CE; Yazar S; Khor CC; Aung T; Yogarajah M; Robson AG; Holder GE; Cheetham ME; Traboulsi EI; Moore AT; Sowden JC; Sisodiya SM; Mackey DA; Tuft SJ; Hardcastle AJ Am J Hum Genet; 2012 Feb; 90(2):247-59. PubMed ID: 22284829 [TBL] [Abstract][Full Text] [Related]
8. Novel disease-causing variants and phenotypic features of X-linked megalocornea. Dudakova L; Tuft S; Cheong SS; Skalicka P; Jedlickova J; Fichtl M; Hlozanek M; Filous A; Vaneckova M; Vincent AL; Hardcastle AJ; Davidson AE; Liskova P Acta Ophthalmol; 2022 Jun; 100(4):431-439. PubMed ID: 34644435 [TBL] [Abstract][Full Text] [Related]
9. Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. Boonstra FN; van Nouhuys CE; Schuil J; de Wijs IJ; van der Donk KP; Nikopoulos K; Mukhopadhyay A; Scheffer H; Tilanus MA; Cremers FP; Hoefsloot LH Invest Ophthalmol Vis Sci; 2009 Sep; 50(9):4379-85. PubMed ID: 19324841 [TBL] [Abstract][Full Text] [Related]
10. Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR. Riveiro-Alvarez R; Trujillo-Tiebas MJ; Gimenez-Pardo A; Garcia-Hoyos M; Cantalapiedra D; Lorda-Sanchez I; Rodriguez de Alba M; Ramos C; Ayuso C Mol Vis; 2005 Sep; 11():705-12. PubMed ID: 16163268 [TBL] [Abstract][Full Text] [Related]
11. A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease. Andarva M; Jamshidi J; Ghaedi H; Daftarian N; Emamalizadeh B; Alehabib E; Taghavi S; Pouriran R; Darvish H Clin Exp Optom; 2018 Mar; 101(2):255-259. PubMed ID: 28922694 [TBL] [Abstract][Full Text] [Related]
12. X-linked high myopia associated with cone dysfunction. Young TL; Deeb SS; Ronan SM; Dewan AT; Alvear AB; Scavello GS; Paluru PC; Brott MS; Hayashi T; Holleschau AM; Benegas N; Schwartz M; Atwood LD; Oetting WS; Rosenberg T; Motulsky AG; King RA Arch Ophthalmol; 2004 Jun; 122(6):897-908. PubMed ID: 15197065 [TBL] [Abstract][Full Text] [Related]
13. Alport syndrome. Molecular genetic aspects. Hertz JM Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970 [TBL] [Abstract][Full Text] [Related]
14. Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene. Wu WC; Drenser K; Trese M; Capone A; Dailey W Arch Ophthalmol; 2007 Feb; 125(2):225-30. PubMed ID: 17296899 [TBL] [Abstract][Full Text] [Related]
15. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. Boon CJ; van den Born LI; Visser L; Keunen JE; Bergen AA; Booij JC; Riemslag FC; Florijn RJ; van Schooneveld MJ Ophthalmology; 2013 Apr; 120(4):809-20. PubMed ID: 23290749 [TBL] [Abstract][Full Text] [Related]
16. Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa. Jin ZB; Gu F; Ma X; Nao-i N Arch Ophthalmol; 2007 Oct; 125(10):1407-12. PubMed ID: 17923551 [TBL] [Abstract][Full Text] [Related]
17. Juvenile retinoschisis: a model for molecular diagnostic testing of X-linked ophthalmic disease. Sieving PA; Yashar BM; Ayyagari R Trans Am Ophthalmol Soc; 1999; 97():451-64; discussion 464-9. PubMed ID: 10703138 [TBL] [Abstract][Full Text] [Related]
18. Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein. Allen RC; Russell SR; Streb LM; Alsheikheh A; Stone EM Eye (Lond); 2006 Feb; 20(2):234-41. PubMed ID: 15776010 [TBL] [Abstract][Full Text] [Related]
19. Clinical and genetic analysis of Indian patients with NDP-related retinopathies. Sudha D; Ganapathy A; Mohan P; Mannan AU; Krishna S; Neriyanuri S; Swaminathan M; Rishi P; Chidambaram S; Arunachalam JP Int Ophthalmol; 2018 Jun; 38(3):1251-1260. PubMed ID: 28602015 [TBL] [Abstract][Full Text] [Related]
20. X-linked cone dysfunction syndrome with myopia and protanopia. Michaelides M; Johnson S; Bradshaw K; Holder GE; Simunovic MP; Mollon JD; Moore AT; Hunt DM Ophthalmology; 2005 Aug; 112(8):1448-54. PubMed ID: 15953640 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]