Literature DB >> 28432732

Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.

Susana Carmona1,2, Maria da Luz Freitas3, Hugo Froufe1, Maria José Simões1, Maria João Sampaio4, Eduardo D Silva5, Conceição Egas1,6.   

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Year:  2017        PMID： 28432732     DOI： 10.1002/ajmg.a.38234

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  6 in total

1.  Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome.

Authors:  Jesús-José Ferre-Fernández; Elena A Sorokina; Samuel Thompson; Ross F Collery; Emily Nordquist; Joy Lincoln; Elena V Semina
Journal:  Hum Mol Genet       Date:  2020-09-29       Impact factor: 6.150

Review 2.  Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss.

Authors:  Angela C Gauthier; Janey L Wiggs
Journal:  Exp Eye Res       Date:  2019-12-11       Impact factor: 3.467

3.  Transformation of the Transcriptomic Profile of Mouse Periocular Mesenchyme During Formation of the Embryonic Cornea.

Authors:  Justin Ma; Peter Lwigale
Journal:  Invest Ophthalmol Vis Sci       Date:  2019-02-01       Impact factor: 4.799

4.  The Axenfeld-Rieger Syndrome Gene FOXC1 Contributes to Left-Right Patterning.

Authors:  Paul W Chrystal; Curtis R French; Francesca Jean; Serhiy Havrylov; Suey van Baarle; Ann-Marie Peturson; Pengfei Xu; J Gage Crump; David B Pilgrim; Ordan J Lehmann; Andrew J Waskiewicz
Journal:  Genes (Basel)       Date:  2021-01-26       Impact factor: 4.096

Review 5.  A novel missense mutation of FOXC1 in an Axenfeld-Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review.

Authors:  Kaiming Li; Min Tang; Manhua Xu; Yinggui Yu
Journal:  BMC Med Genomics       Date:  2021-10-29       Impact factor: 3.063

6.  The diagnosis and phacoemulsification in combination with intraocular lens implantation for an Axenfeld-Rieger syndrome patient with small cornea: a case report.

Authors:  Yajuan Ma; Xingdi Wu; Shuang Ni; Xiang Chen; Suhong He; Wen Xu
Journal:  BMC Ophthalmol       Date:  2020-04-15       Impact factor: 2.209
  6 in total

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