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Items: 1 to 20 of 115

1.

Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.

Delahaye A, Khung-Savatovsky S, Aboura A, Guimiot F, Drunat S, Alessandri JL, GĂ©rard M, Bitoun P, Boumendil J, Robin S, Huel C, Guilherme R, Serero S, Gressens P, Elion J, Verloes A, Benzacken B, Delezoide AL, Pipiras E.

Am J Med Genet A. 2012 Oct;158A(10):2430-8. doi: 10.1002/ajmg.a.35548. Epub 2012 Aug 17.

PMID:
22903608
2.

Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25.

Tonoki H, Harada N, Shimokawa O, Yosozumi A, Monzaki K, Satoh K, Kosaki R, Sato A, Matsumoto N, Iizuka S.

Am J Med Genet A. 2011 Dec;155A(12):2925-32. doi: 10.1002/ajmg.a.33858. Epub 2011 Oct 18.

PMID:
22009788
3.

Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.

Lehmann OJ, Ebenezer ND, Ekong R, Ocaka L, Mungall AJ, Fraser S, McGill JI, Hitchings RA, Khaw PT, Sowden JC, Povey S, Walter MA, Bhattacharya SS, Jordan T.

Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1843-9.

PMID:
12036988
4.

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.

Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ.

Nat Genet. 2009 Sep;41(9):1037-42. doi: 10.1038/ng.422. Epub 2009 Aug 9.

5.

Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome.

Fuse N, Takahashi K, Yokokura S, Nishida K.

Mol Vis. 2007 Jun 27;13:1005-9.

6.

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.

Am J Ophthalmol. 2003 Mar;135(3):368-75.

PMID:
12614756
7.

Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.

Panicker SG, Sampath S, Mandal AK, Reddy AB, Ahmed N, Hasnain SE.

Invest Ophthalmol Vis Sci. 2002 Dec;43(12):3613-6.

PMID:
12454026
8.

Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous.

Suzuki K, Nakamura M, Amano E, Mokuno K, Shirai S, Terasaki H.

Am J Med Genet A. 2006 Mar 1;140(5):503-8.

PMID:
16470791
9.

Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.

Gould DB, Jaafar MS, Addison MK, Munier F, Ritch R, MacDonald IM, Walter MA.

BMC Med Genet. 2004 Jun 25;5:17. Review.

10.

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. doi: 10.1002/ajmg.a.35697. Epub 2012 Dec 14.

PMID:
23239455
11.

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.

PMID:
17197537
12.

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.

J Glaucoma. 2002 Feb;11(1):51-6.

PMID:
11821690
13.

Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India.

Komatireddy S, Chakrabarti S, Mandal AK, Reddy AB, Sampath S, Panicker SG, Balasubramanian D.

Mol Vis. 2003 Feb 18;9:43-8.

14.

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.

PMID:
16638984
15.

Axenfeld-Rieger syndrome in the age of molecular genetics.

Alward WL.

Am J Ophthalmol. 2000 Jul;130(1):107-15. Review.

PMID:
11004268
16.

Chromosome 6p25 deletion syndrome: report of a case with optic disc coloboma and review of published ophthalmic findings.

Beby F, Des Portes V, Till M, Mottolese C, Denis P.

Ophthalmic Genet. 2012 Dec;33(4):240-8. doi: 10.3109/13816810.2012.675396. Epub 2012 Apr 12. Review.

PMID:
22497499
17.

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. doi: 10.1038/ejhg.2012.80. Epub 2012 May 9.

18.

Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis.

Berry FB, Lines MA, Oas JM, Footz T, Underhill DA, Gage PJ, Walter MA.

Hum Mol Genet. 2006 Mar 15;15(6):905-19. Epub 2006 Jan 31.

PMID:
16449236
19.

Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.

Qi Z, Jeng LJ, Slavotinek A, Yu J.

BMC Med Genomics. 2015 Jul 15;8:38. doi: 10.1186/s12920-015-0113-1.

20.

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 21;52(1):324-33. doi: 10.1167/iovs.10-5309.

PMID:
20881294

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