542 related articles for article (PubMed ID: 17197537)
21. Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation.
Gripp KW; Hopkins E; Jenny K; Thacker D; Salvin J
Am J Med Genet A; 2013 Jan; 161A(1):114-9. PubMed ID: 23239455
[TBL] [Abstract][Full Text] [Related]
22. Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients.
Kawase C; Kawase K; Taniguchi T; Sugiyama K; Yamamoto T; Kitazawa Y; Alward WL; Stone EM; Nishimura DY; Sheffield VC
J Glaucoma; 2001 Dec; 10(6):477-82. PubMed ID: 11740218
[TBL] [Abstract][Full Text] [Related]
23. Axenfeld-Rieger syndrome: new perspectives.
Chang TC; Summers CG; Schimmenti LA; Grajewski AL
Br J Ophthalmol; 2012 Mar; 96(3):318-22. PubMed ID: 22199394
[TBL] [Abstract][Full Text] [Related]
24. PITX2 and FOXC1 spectrum of mutations in ocular syndromes.
Reis LM; Tyler RC; Volkmann Kloss BA; Schilter KF; Levin AV; Lowry RB; Zwijnenburg PJ; Stroh E; Broeckel U; Murray JC; Semina EV
Eur J Hum Genet; 2012 Dec; 20(12):1224-33. PubMed ID: 22569110
[TBL] [Abstract][Full Text] [Related]
25. Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.
D'haene B; Meire F; Claerhout I; Kroes HY; Plomp A; Arens YH; de Ravel T; Casteels I; De Jaegere S; Hooghe S; Wuyts W; van den Ende J; Roulez F; Veenstra-Knol HE; Oldenburg RA; Giltay J; Verheij JB; de Faber JT; Menten B; De Paepe A; Kestelyn P; Leroy BP; De Baere E
Invest Ophthalmol Vis Sci; 2011 Jan; 52(1):324-33. PubMed ID: 20881294
[TBL] [Abstract][Full Text] [Related]
26. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.
Mirzayans F; Gould DB; Héon E; Billingsley GD; Cheung JC; Mears AJ; Walter MA
Eur J Hum Genet; 2000 Jan; 8(1):71-4. PubMed ID: 10713890
[TBL] [Abstract][Full Text] [Related]
27. Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.
Souzeau E; Siggs OM; Pasutto F; Knight LSW; Perez-Jurado LA; McGregor L; Le Blanc S; Barnett CP; Liebelt J; Craig JE
Am J Med Genet A; 2021 Feb; 185(2):434-439. PubMed ID: 33231930
[TBL] [Abstract][Full Text] [Related]
28. Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma.
Pasutto F; Mauri L; Popp B; Sticht H; Ekici A; Piozzi E; Bonfante A; Penco S; Schlötzer-Schrehardt U; Reis A
Gene; 2015 Aug; 568(1):76-80. PubMed ID: 25967385
[TBL] [Abstract][Full Text] [Related]
29. Morphology of the sella turcica in Axenfeld-Rieger syndrome with PITX2 mutation.
Meyer-Marcotty P; Weisschuh N; Dressler P; Hartmann J; Stellzig-Eisenhauer A
J Oral Pathol Med; 2008 Sep; 37(8):504-10. PubMed ID: 18331556
[TBL] [Abstract][Full Text] [Related]
30. Current molecular understanding of Axenfeld-Rieger syndrome.
Hjalt TA; Semina EV
Expert Rev Mol Med; 2005 Nov; 7(25):1-17. PubMed ID: 16274491
[TBL] [Abstract][Full Text] [Related]
31. Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.
Zhou L; Wang X; An J; Zhang Y; He M; Tang L
Exp Eye Res; 2023 Jan; 226():109307. PubMed ID: 36442680
[TBL] [Abstract][Full Text] [Related]
32. Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.
Khan AO; Aldahmesh MA; Al-Amri A
Ophthalmic Genet; 2008 Jun; 29(2):67-71. PubMed ID: 18484311
[TBL] [Abstract][Full Text] [Related]
33. Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations.
Lines MA; Kozlowski K; Kulak SC; Allingham RR; Héon E; Ritch R; Levin AV; Shields MB; Damji KF; Newlin A; Walter MA
Invest Ophthalmol Vis Sci; 2004 Mar; 45(3):828-33. PubMed ID: 14985297
[TBL] [Abstract][Full Text] [Related]
34. Molecular and developmental mechanisms of anterior segment dysgenesis.
Sowden JC
Eye (Lond); 2007 Oct; 21(10):1310-8. PubMed ID: 17914434
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Axenfeld-Rieger syndrome in the age of molecular genetics.
Alward WL
Am J Ophthalmol; 2000 Jul; 130(1):107-15. PubMed ID: 11004268
[TBL] [Abstract][Full Text] [Related]
37. Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1.
Saleem RA; Banerjee-Basu S; Berry FB; Baxevanis AD; Walter MA
Hum Mol Genet; 2003 Nov; 12(22):2993-3005. PubMed ID: 14506133
[TBL] [Abstract][Full Text] [Related]
38. Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.
Kelberman D; Islam L; Holder SE; Jacques TS; Calvas P; Hennekam RC; Nischal KK; Sowden JC
Hum Mutat; 2011 Oct; 32(10):1144-52. PubMed ID: 21837767
[TBL] [Abstract][Full Text] [Related]
39. Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome.
Engenheiro E; Saraiva J; Carreira I; Ramos L; Ropers HH; Silva E; Tommerup N; Tümer Z
Clin Genet; 2007 Nov; 72(5):464-70. PubMed ID: 17850355
[TBL] [Abstract][Full Text] [Related]
40. A large deletion spanning
Qin Y; Gao P; Yu S; Li J; Huang Y; Jia D; Tang Z; Li P; Liu F; Liu M
Mol Vis; 2020; 26():670-678. PubMed ID: 33088171
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
