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Items: 1 to 20 of 103

1.

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 10;90(2):247-59. doi: 10.1016/j.ajhg.2011.12.019. Epub 2012 Jan 26.

2.

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 Aug 5;9(8):e104163. doi: 10.1371/journal.pone.0104163. eCollection 2014.

3.

Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.

Pfirrmann T, Emmerich D, Ruokonen P, Quandt D, Buchen R, Fischer-Zirnsak B, Hecht J, Krawitz P, Meyer P, Klopocki E, Stricker S, Lausch E, Seliger B, Hollemann T, Reinhard T, Auw-Haedrich C, Zabel B, Hoffmann K, Villavicencio-Lorini P.

Hum Mol Genet. 2015 Jun 1;24(11):3119-32. doi: 10.1093/hmg/ddv063. Epub 2015 Feb 23.

PMID:
25712132
4.

X-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8).

Han J, Young JW, Frausto RF, Isenberg SJ, Aldave AJ.

Ophthalmic Genet. 2015 Jun;36(2):145-8. doi: 10.3109/13816810.2013.837187. Epub 2013 Sep 27.

5.

Novel Mutation in the CHRDL1 Gene Detected in Patients With Megalocornea.

Mangialavori D, Colao E, Carnevali A, Bruzzichessi D, Grillone T, Perrotti N, Iuliano R, Scorcia V.

Cornea. 2015 Aug;34(8):976-9. doi: 10.1097/ICO.0000000000000472.

PMID:
26020825
6.

Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome.

Herwig MC, Loeffler KU, Gembruch U, Kuchelmeister K, Müller AM.

Pediatr Dev Pathol. 2014 Nov-Dec;17(6):491-5. doi: 10.2350/13-11-1408-CR.1. Epub 2014 Oct 7.

PMID:
25291437
7.

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.

Cheong SS, Hentschel L, Davidson AE, Gerrelli D, Davie R, Rizzo R, Pontikos N, Plagnol V, Moore AT, Sowden JC, Michaelides M, Snead M, Tuft SJ, Hardcastle AJ.

Am J Hum Genet. 2016 Dec 1;99(6):1338-1352. doi: 10.1016/j.ajhg.2016.09.022. Epub 2016 Nov 10.

8.

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.

Mol Vis. 2007 Apr 2;13:511-23.

9.

Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.

Zhang X, Tong Y, Xu W, Dong B, Yang H, Xu L, Li Y.

Eye (Lond). 2011 Dec;25(12):1581-9. doi: 10.1038/eye.2011.215. Epub 2011 Sep 9.

10.

Penetrance of eye defects in mice heterozygous for mutation of Gli3 is enhanced by heterozygous mutation of Pax6.

Zaki PA, Collinson JM, Toraiwa J, Simpson TI, Price DJ, Quinn JC.

BMC Dev Biol. 2006 Oct 9;6:46.

11.

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 18;9:43-8.

12.

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T.

Invest Ophthalmol Vis Sci. 2007 Sep;48(9):3937-44.

PMID:
17724170
13.

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 2;11:705-12.

14.

A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum.

Berker N, Alanay Y, Elgin U, Volkan-Salanci B, Simsek T, Akarsu N, Alikasifoglu M.

Acta Ophthalmol. 2009 Feb;87(1):52-7. doi: 10.1111/j.1600-0420.2007.01082.x. Epub 2008 Jun 19.

15.

PAX6 mutations identified in 4 of 35 families with microcornea.

Wang P, Sun W, Li S, Xiao X, Guo X, Zhang Q.

Invest Ophthalmol Vis Sci. 2012 Sep 19;53(10):6338-42.

PMID:
22893676
16.

Loss of Msx2 function down-regulates the FoxE3 expression and results in anterior segment dysgenesis resembling Peters anomaly.

Zhao J, Kawai K, Wang H, Wu D, Wang M, Yue Z, Zhang J, Liu YH.

Am J Pathol. 2012 Jun;180(6):2230-9. doi: 10.1016/j.ajpath.2012.02.017. Epub 2012 Apr 13. Erratum in: Am J Pathol. 2012 Jul;181(1):374.

17.

Novel anterior segment phenotypes resulting from forkhead gene alterations: evidence for cross-species conservation of function.

Lehmann OJ, Tuft S, Brice G, Smith R, Blixt A, Bell R, Johansson B, Jordan T, Hitchings RA, Khaw PT, John SW, Carlsson P, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2003 Jun;44(6):2627-33.

PMID:
12766066
18.

Cataract extraction in X-linked megalocornea: a case report.

de Sanctis U, Grignolo FM.

Cornea. 2004 Jul;23(5):533-5.

PMID:
15220744
19.

Ventroptin: a BMP-4 antagonist expressed in a double-gradient pattern in the retina.

Sakuta H, Suzuki R, Takahashi H, Kato A, Shintani T, Iemura Si, Yamamoto TS, Ueno N, Noda M.

Science. 2001 Jul 6;293(5527):111-5.

20.

Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies.

Azuma N, Yamada M.

Invest Ophthalmol Vis Sci. 1998 Apr;39(5):828-30.

PMID:
9538891

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