162 related articles for article (PubMed ID: 36997679)
21. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.
Bakrania P; Robinson DO; Bunyan DJ; Salt A; Martin A; Crolla JA; Wyatt A; Fielder A; Ainsworth J; Moore A; Read S; Uddin J; Laws D; Pascuel-Salcedo D; Ayuso C; Allen L; Collin JR; Ragge NK
Br J Ophthalmol; 2007 Nov; 91(11):1471-6. PubMed ID: 17522144
[TBL] [Abstract][Full Text] [Related]
22. Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.
Reis LM; Tyler RC; Schneider A; Bardakjian T; Semina EV
Mol Vis; 2010 Apr; 16():768-73. PubMed ID: 20454695
[TBL] [Abstract][Full Text] [Related]
23. Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
Deml B; Reis LM; Lemyre E; Clark RD; Kariminejad A; Semina EV
Eur J Hum Genet; 2016 Apr; 24(4):535-41. PubMed ID: 26130484
[TBL] [Abstract][Full Text] [Related]
24. Mouse models for microphthalmia, anophthalmia and cataracts.
Graw J
Hum Genet; 2019 Sep; 138(8-9):1007-1018. PubMed ID: 30919050
[TBL] [Abstract][Full Text] [Related]
25. Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.
Matías-Pérez D; García-Montaño LA; Cruz-Aguilar M; García-Montalvo IA; Nava-Valdéz J; Barragán-Arevalo T; Villanueva-Mendoza C; Villarroel CE; Guadarrama-Vallejo C; la Cruz RV; Chacón-Camacho O; Zenteno JC
J Hum Genet; 2018 Nov; 63(11):1169-1180. PubMed ID: 30181649
[TBL] [Abstract][Full Text] [Related]
26. [SOX2 defect and anophthalmia and microphthalmia].
Ye FX; Fan XQ
Zhonghua Yan Ke Za Zhi; 2012 Nov; 48(11):1049-52. PubMed ID: 23302280
[TBL] [Abstract][Full Text] [Related]
27. Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
Plaisancié J; Ceroni F; Holt R; Zazo Seco C; Calvas P; Chassaing N; Ragge NK
Hum Genet; 2019 Sep; 138(8-9):799-830. PubMed ID: 30762128
[TBL] [Abstract][Full Text] [Related]
28. Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.
Amlie-Wolf L; Bardakjian T; Kopinsky SM; Reis LM; Semina EV; Schneider A
Am J Med Genet A; 2022 Jan; 188(1):187-198. PubMed ID: 34562068
[TBL] [Abstract][Full Text] [Related]
29. Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia.
Habibi I; Youssef M; Marzouk E; El Shakankiri N; Gawdat G; El Sada M; F Schorderet D; Abou Zeid H
Adv Exp Med Biol; 2019; 1185():221-226. PubMed ID: 31884615
[TBL] [Abstract][Full Text] [Related]
30. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Rainger J; Pehlivan D; Johansson S; Bengani H; Sanchez-Pulido L; Williamson KA; Ture M; Barker H; Rosendahl K; Spranger J; Horn D; Meynert A; Floyd JA; Prescott T; Anderson CA; Rainger JK; Karaca E; Gonzaga-Jauregui C; Jhangiani S; Muzny DM; Seawright A; Soares DC; Kharbanda M; Murday V; Finch A; ; ; Gibbs RA; van Heyningen V; Taylor MS; Yakut T; Knappskog PM; Hurles ME; Ponting CP; Lupski JR; Houge G; FitzPatrick DR
Am J Hum Genet; 2014 Jun; 94(6):915-23. PubMed ID: 24906020
[TBL] [Abstract][Full Text] [Related]
31. Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner.
Wawrocka A; Walczak-Sztulpa J; Pawlak M; Gotz-Wieckowska A; Krawczynski MR
Am J Med Genet A; 2021 Jan; 185(1):250-255. PubMed ID: 33111437
[TBL] [Abstract][Full Text] [Related]
32. Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia.
Chassaing N; Ragge N; Kariminejad A; Buffet A; Ghaderi-Sohi S; Martinovic J; Calvas P
Clin Genet; 2013 Mar; 83(3):244-50. PubMed ID: 22686418
[TBL] [Abstract][Full Text] [Related]
33. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
Deml B; Reis LM; Maheshwari M; Griffis C; Bick D; Semina EV
Clin Genet; 2014 Nov; 86(5):475-81. PubMed ID: 24628545
[TBL] [Abstract][Full Text] [Related]
34. Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
Schneider A; Bardakjian T; Reis LM; Tyler RC; Semina EV
Am J Med Genet A; 2009 Dec; 149A(12):2706-15. PubMed ID: 19921648
[TBL] [Abstract][Full Text] [Related]
35. 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; 13():511-23. PubMed ID: 17417613
[TBL] [Abstract][Full Text] [Related]
36. Genes relacionados con microftalmia y anoftalmia hereditarias.
Matías-Pérez D; García-Montalvo IA; Zenteno JC
Gac Med Mex; 2017; 153(7):824-829. PubMed ID: 29414965
[TBL] [Abstract][Full Text] [Related]
37. FOXE3 mutations: genotype-phenotype correlations.
Plaisancié J; Ragge NK; Dollfus H; Kaplan J; Lehalle D; Francannet C; Morin G; Colineaux H; Calvas P; Chassaing N
Clin Genet; 2018 Apr; 93(4):837-845. PubMed ID: 29136273
[TBL] [Abstract][Full Text] [Related]
38. Whole-genome copy number variation analysis in anophthalmia and microphthalmia.
Schilter KF; Reis LM; Schneider A; Bardakjian TM; Abdul-Rahman O; Kozel BA; Zimmerman HH; Broeckel U; Semina EV
Clin Genet; 2013 Nov; 84(5):473-81. PubMed ID: 23701296
[TBL] [Abstract][Full Text] [Related]
39. Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum.
Skalicky SE; White AJ; Grigg JR; Martin F; Smith J; Jones M; Donaldson C; Smith JE; Flaherty M; Jamieson RV
JAMA Ophthalmol; 2013 Dec; 131(12):1517-24. PubMed ID: 24177921
[TBL] [Abstract][Full Text] [Related]
40. Identification of PITX3 mutations in individuals with various ocular developmental defects.
Zazo Seco C; Plaisancié J; Lupasco T; Michot C; Pechmeja J; Delanne J; Cottereau E; Ayuso C; Corton M; Calvas P; Ragge N; Chassaing N
Ophthalmic Genet; 2018 Jun; 39(3):314-320. PubMed ID: 29405783
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]