相似文献
1
A second locus for Rieger syndrome maps to chromosome 13q14.
Am J Hum Genet. 1996 Sep;59(3):613-9.
2
[Rieger syndrome].
Ryoikibetsu Shokogun Shirizu. 2000(30 Pt 5):231-3.
3
Genetic heterogeneity in Rieger eye malformation.
J Med Genet. 1994 Apr;31(4):340-1. doi: 10.1136/jmg.31.4.340.
4
Rieger syndrome is associated with PAX6 deletion.
Acta Ophthalmol Scand. 2001 Apr;79(2):201-3. doi: 10.1034/j.1600-0420.2001.079002201.x.
5
Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct.
Ophthalmology. 1996 Nov;103(11):1907-15. doi: 10.1016/s0161-6420(96)30408-9.
6
Rieger syndrome: a clinical, molecular, and biochemical analysis.
Cell Mol Life Sci. 2000 Oct;57(11):1652-66. doi: 10.1007/pl00000647.
7
Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region.
Am J Hum Genet. 1996 Dec;59(6):1297-305.
8
The Rieger syndrome and a chromosome 13 deletion.
J Pediatr Ophthalmol Strabismus. 1987 Jul-Aug;24(4):198-203. doi: 10.3928/0191-3913-19870701-12.
9
Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?
Am J Med Genet. 2002 Aug 1;111(2):182-6. doi: 10.1002/ajmg.10493.
10
Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus.
Am J Hum Genet. 1996 Dec;59(6):1288-96.
引用本文的文献
1
Identification and functional study of a novel FOXC1 missense mutation in a Chinese family with Axenfeld-Rieger syndrome.
Sci Rep. 2025 Jun 6;15(1):19957. doi: 10.1038/s41598-025-04872-x.
2
Complex genomic rearrangement with deletion of in a Chinese family with Axenfeld-Rieger syndrome: A case report and literature review.
Mol Vis. 2024 Dec 31;30:466-476. eCollection 2024.
3
Intergenic sequences harboring potential enhancer elements contribute to Axenfeld-Rieger syndrome by regulating PITX2.
JCI Insight. 2024 Apr 9;9(9):e177032. doi: 10.1172/jci.insight.177032.
4
Genetic Aspects of Glaucoma: An Updated Review.
Curr Mol Med. 2024;24(10):1231-1249. doi: 10.2174/1566524023666230602143617.
5
Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives.
Clin Ophthalmol. 2023 Mar 10;17:819-828. doi: 10.2147/OPTH.S379853. eCollection 2023.
6
Case report: Congenital mitral and tricuspid valve insufficiency in a patient with Axenfeld-Rieger syndrome.
Front Cardiovasc Med. 2022 Sep 23;9:977432. doi: 10.3389/fcvm.2022.977432. eCollection 2022.
7
Axenfeld-Rieger syndrome: orthopedic and orthodontic management in a pediatric patient: a case report.
Head Face Med. 2022 Jul 8;18(1):25. doi: 10.1186/s13005-022-00329-y.
8
Mechanistic Insights into Axenfeld-Rieger Syndrome from Zebrafish and Mutants.
Int J Mol Sci. 2021 Sep 16;22(18):10001. doi: 10.3390/ijms221810001.
9
Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report.
BMC Ophthalmol. 2021 Mar 29;21(1):154. doi: 10.1186/s12886-021-01899-2.
10
A PITX2 splice-site mutation in a family with Axenfeld-Rieger syndrome leads to decreased expression of nuclear PITX2 protein.
Int Ophthalmol. 2021 Apr;41(4):1503-1511. doi: 10.1007/s10792-021-01704-5. Epub 2021 Jan 25.
本文引用的文献
1
The gooseberry-zipper region of Drosophila: five genes encode different spatially restricted transcripts in the embryo.
EMBO J. 1987 Sep;6(9):2793-801. doi: 10.1002/j.1460-2075.1987.tb02575.x.
2
A comprehensive genetic map of the human genome based on 5,264 microsatellites.
Nature. 1996 Mar 14;380(6570):152-4. doi: 10.1038/380152a0.
3
lin-31, a Caenorhabditis elegans HNF-3/fork head transcription factor homolog, specifies three alternative cell fates in vulval development.
Genes Dev. 1993 Jun;7(6):933-47. doi: 10.1101/gad.7.6.933.
4
Differential expression of multiple fork head related genes during gastrulation and axial pattern formation in the mouse embryo.
Development. 1993 May;118(1):47-59. doi: 10.1242/dev.118.1.47.
5
Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma.
Nat Genet. 1993 Nov;5(3):230-5. doi: 10.1038/ng1193-230.
6
Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees.
Genomics. 1994 May 15;21(2):299-303. doi: 10.1006/geno.1994.1269.
7
Genetic heterogeneity in Rieger eye malformation.
J Med Genet. 1994 Apr;31(4):340-1. doi: 10.1136/jmg.31.4.340.
8
The HNF-3 gene family of transcription factors in mice: gene structure, cDNA sequence, and mRNA distribution.
Genomics. 1994 Apr;20(3):377-85. doi: 10.1006/geno.1994.1191.
9
Axial, a zebrafish gene expressed along the developing body axis, shows altered expression in cyclops mutant embryos.
Genes Dev. 1993 Jul;7(7B):1436-46. doi: 10.1101/gad.7.7b.1436.
10
Identification of nine tissue-specific transcription factors of the hepatocyte nuclear factor 3/forkhead DNA-binding-domain family.
Proc Natl Acad Sci U S A. 1993 May 1;90(9):3948-52. doi: 10.1073/pnas.90.9.3948.
Zotero 插件