153 related articles for article (PubMed ID: 30657791)
1. Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma.
Medina-Trillo C; Aroca-Aguilar JD; Ferre-Fernández JJ; Alexandre-Moreno S; Morales L; Méndez-Hernández CD; García-Feijoo J; Escribano J
PLoS One; 2019; 14(1):e0211029. PubMed ID: 30657791
[TBL] [Abstract][Full Text] [Related]
2. Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences.
Medina-Trillo C; Aroca-Aguilar JD; Méndez-Hernández CD; Morales L; García-Antón M; García-Feijoo J; Escribano J
Eur J Hum Genet; 2016 May; 24(5):672-80. PubMed ID: 26220699
[TBL] [Abstract][Full Text] [Related]
3. Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients.
Hernández-Martínez N; González-Del Angel A; Alcántara-Ortigoza MA; González-Huerta LM; Cuevas-Covarrubias SA; Villanueva-Mendoza C
Ophthalmic Genet; 2018 Dec; 39(6):728-734. PubMed ID: 30457409
[TBL] [Abstract][Full Text] [Related]
4. Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.
Mauri L; Uebe S; Sticht H; Vossmerbaeumer U; Weisschuh N; Manfredini E; Maselli E; Patrosso M; Weinreb RN; Penco S; Reis A; Pasutto F
Orphanet J Rare Dis; 2016 Aug; 11(1):108. PubMed ID: 27484908
[TBL] [Abstract][Full Text] [Related]
5. Primary congenital and developmental glaucomas.
Lewis CJ; Hedberg-Buenz A; DeLuca AP; Stone EM; Alward WLM; Fingert JH
Hum Mol Genet; 2017 Aug; 26(R1):R28-R36. PubMed ID: 28549150
[TBL] [Abstract][Full Text] [Related]
6. Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma.
Kabra M; Zhang W; Rathi S; Mandal AK; Senthil S; Pyatla G; Ramappa M; Banerjee S; Shekhar K; Marmamula S; Mettla AL; Kaur I; Khanna RC; Khanna H; Chakrabarti S
Hum Genet; 2017 Aug; 136(8):941-949. PubMed ID: 28620713
[TBL] [Abstract][Full Text] [Related]
7. Identities and frequencies of variants in
Rashid M; Yousaf S; Sheikh SA; Sajid Z; Shabbir AS; Kausar T; Tariq N; Usman M; Shaikh RS; Ali M; Bukhari SA; Waryah AM; Qasim M; Riazuddin S; Ahmed ZM
Mol Vis; 2019; 25():144-154. PubMed ID: 30820150
[TBL] [Abstract][Full Text] [Related]
8. Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma.
Cella W; de Vasconcellos JP; de Melo MB; Kneipp B; Costa FF; Longui CA; Costa VP
Invest Ophthalmol Vis Sci; 2006 May; 47(5):1803-9. PubMed ID: 16638984
[TBL] [Abstract][Full Text] [Related]
9. A complex regulatory network of transcription factors critical for ocular development and disease.
Acharya M; Huang L; Fleisch VC; Allison WT; Walter MA
Hum Mol Genet; 2011 Apr; 20(8):1610-24. PubMed ID: 21282189
[TBL] [Abstract][Full Text] [Related]
10. Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.
Wang X; Liu X; Huang L; Fang S; Jia X; Xiao X; Li S; Guo X
Curr Eye Res; 2018 Nov; 43(11):1334-1341. PubMed ID: 29939776
[TBL] [Abstract][Full Text] [Related]
11. Functional characterization of eight rare missense CYP1B1 variants involved in congenital glaucoma and their association with null genotypes.
Medina-Trillo C; Ferre-Fernández JJ; Aroca-Aguilar JD; Bonet-Fernández JM; Escribano J
Acta Ophthalmol; 2016 Nov; 94(7):e555-e560. PubMed ID: 27060699
[TBL] [Abstract][Full Text] [Related]
12. Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.
Khan AO; Aldahmesh MA; Al-Abdi L; Mohamed JY; Hashem M; Al-Ghamdi I; Alkuraya FS
Ophthalmic Genet; 2011 Sep; 32(3):138-42. PubMed ID: 21306220
[TBL] [Abstract][Full Text] [Related]
13. A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis.
Yang Y; Li X; Wang J; Tan J; Fitzmaurice B; Nishina PM; Sun K; Tian W; Liu W; Liu X; Chang B; Zhu X
Cell Death Dis; 2021 Oct; 12(11):1017. PubMed ID: 34716303
[TBL] [Abstract][Full Text] [Related]
14. Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.
Banerjee A; Chakraborty S; Chakraborty A; Chakrabarti S; Ray K
PLoS One; 2016; 11(5):e0156252. PubMed ID: 27243976
[TBL] [Abstract][Full Text] [Related]
15. Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
Vieira V; David G; Roche O; de la Houssaye G; Boutboul S; Arbogast L; Kobetz A; Orssaud C; Camand O; Schorderet DF; Munier F; Rossi A; Delezoide AL; Marsac C; Ricquier D; Dufier JL; Menasche M; Abitbol M
Mol Vis; 2006 Dec; 12():1448-60. PubMed ID: 17167399
[TBL] [Abstract][Full Text] [Related]
16. Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.
Strungaru MH; Dinu I; Walter MA
Invest Ophthalmol Vis Sci; 2007 Jan; 48(1):228-37. PubMed ID: 17197537
[TBL] [Abstract][Full Text] [Related]
17. Molecular basis of Peters anomaly in Saudi Arabia.
Edward D; Al Rajhi A; Lewis RA; Curry S; Wang Z; Bejjani B
Ophthalmic Genet; 2004 Dec; 25(4):257-70. PubMed ID: 15621878
[TBL] [Abstract][Full Text] [Related]
18. A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.
Micheal S; Siddiqui SN; Zafar SN; Villanueva-Mendoza C; Cortés-González V; Khan MI; den Hollander AI
PLoS One; 2016; 11(7):e0160016. PubMed ID: 27463523
[TBL] [Abstract][Full Text] [Related]
19. Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.
Souzeau E; Siggs OM; Zhou T; Galanopoulos A; Hodson T; Taranath D; Mills RA; Landers J; Pater J; Smith JE; Elder JE; Rait JL; Giles P; Phakey V; Staffieri SE; Kearns LS; Dubowsky A; Mackey DA; Hewitt AW; Ruddle JB; Burdon KP; Craig JE
Eur J Hum Genet; 2017 Jun; 25(7):839-847. PubMed ID: 28513611
[TBL] [Abstract][Full Text] [Related]
20. Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3' splice acceptor site of intron 2.
Afzal R; Firasat S; Kaul H; Ahmed B; Siddiqui SN; Zafar SN; Shahzadi M; Afshan K
Congenit Anom (Kyoto); 2019 Sep; 59(5):152-161. PubMed ID: 30270463
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]