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Rieger syndrome: a clinical, molecular, and biochemical analysis.
Amendt BA, Semina EV, Alward WL. Amendt BA, et al. Among authors: alward wl. Cell Mol Life Sci. 2000 Oct;57(11):1652-66. doi: 10.1007/pl00000647. Cell Mol Life Sci. 2000. PMID: 11092457 Review.
Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil.
Borges AS, Susanna R Jr, Carani JC, Betinjane AJ, Alward WL, Stone EM, Sheffield VC, Nishimura DY. Borges AS, et al. Among authors: alward wl. J Glaucoma. 2002 Feb;11(1):51-6. doi: 10.1097/00061198-200202000-00010. J Glaucoma. 2002. PMID: 11821690
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.
Honkanen RA, Nishimura DY, Swiderski RE, Bennett SR, Hong S, Kwon YH, Stone EM, Sheffield VC, Alward WL. Honkanen RA, et al. Among authors: alward wl. Am J Ophthalmol. 2003 Mar;135(3):368-75. doi: 10.1016/s0002-9394(02)02061-5. Am J Ophthalmol. 2003. PMID: 12614756
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. Kawase C, et al. Among authors: alward wl. J Glaucoma. 2001 Dec;10(6):477-82. doi: 10.1097/00061198-200112000-00007. J Glaucoma. 2001. PMID: 11740218
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome.
Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC. Semina EV, et al. Among authors: alward wl. Nat Genet. 1996 Dec;14(4):392-9. doi: 10.1038/ng1296-392. Nat Genet. 1996. PMID: 8944018
Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.
Alward WL, Semina EV, Kalenak JW, Héon E, Sheth BP, Stone EM, Murray JC. Alward WL, et al. Am J Ophthalmol. 1998 Jan;125(1):98-100. doi: 10.1016/s0002-9394(99)80242-6. Am J Ophthalmol. 1998. PMID: 9437321
Axenfeld-Rieger syndrome in the age of molecular genetics.
Alward WL. Alward WL. Am J Ophthalmol. 2000 Jul;130(1):107-15. doi: 10.1016/s0002-9394(00)00525-0. Am J Ophthalmol. 2000. PMID: 11004268 Review.
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25).
Héon E, Sheth BP, Kalenak JW, Sunden SL, Streb LM, Taylor CM, Alward WL, Sheffield VC, Stone EM. Héon E, et al. Among authors: alward wl. Hum Mol Genet. 1995 Aug;4(8):1435-9. doi: 10.1093/hmg/4.8.1435. Hum Mol Genet. 1995. PMID: 7581385
Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4.
Murray JC, Bennett SR, Kwitek AE, Small KW, Schinzel A, Alward WL, Weber JL, Bell GI, Buetow KH. Murray JC, et al. Among authors: alward wl. Nat Genet. 1992 Sep;2(1):46-9. doi: 10.1038/ng0992-46. Nat Genet. 1992. PMID: 1303248
Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome.
Maciolek NL, Alward WL, Murray JC, Semina EV, McNally MT. Maciolek NL, et al. Among authors: alward wl. BMC Med Genet. 2006 Jul 11;7:59. doi: 10.1186/1471-2350-7-59. BMC Med Genet. 2006. PMID: 16834779 Free PMC article.
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