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Results: 1 to 20 of 91

Similar articles for PubMed (Select 22509100)

1.

Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma.

Mao M, Solivan-Timpe F, Roos BR, Mullins RF, Oetting TA, Kwon YH, Brzeskiewicz PM, Stone EM, Alward WL, Anderson MG, Fingert JH.

Mol Vis. 2012;18:705-13. Epub 2012 Mar 26.

2.

Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b.

Mao M, Hedberg-Buenz A, Koehn D, John SW, Anderson MG.

Invest Ophthalmol Vis Sci. 2011 Apr 1;52(5):2679-88. doi: 10.1167/iovs.10-5993. Print 2011 Apr.

3.

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
4.

Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.

Weisschuh N, Dressler P, Schuettauf F, Wolf C, Wissinger B, Gramer E.

Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3846-52. Erratum in: Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5162.

PMID:
16936096
5.

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.

Iqbal Z, Cejudo-Martin P, de Brouwer A, van der Zwaag B, Ruiz-Lozano P, Scimia MC, Lindsey JD, Weinreb R, Albrecht B, Megarbane A, Alanay Y, Ben-Neriah Z, Amenduni M, Artuso R, Veltman JA, van Beusekom E, Oudakker A, Millán JL, Hennekam R, Hamel B, Courtneidge SA, van Bokhoven H.

Am J Hum Genet. 2010 Feb 12;86(2):254-61. doi: 10.1016/j.ajhg.2010.01.009. Epub 2010 Feb 4.

6.

Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome.

Cunningham ET Jr, Eliott D, Miller NR, Maumenee IH, Green WR.

Arch Ophthalmol. 1998 Jan;116(1):78-82.

PMID:
9445211
7.

Humphrey visual fields and optical coherence tomography findings in patients with the Axenfeld-Rieger syndrome: a case series.

Santiago-Cabán LA, Colón-Casasnovas JE, Izquierdo NJ.

Bol Asoc Med P R. 2010 Oct-Dec;102(4):9-14.

PMID:
21766542
8.

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.

9.

Dysfunction of the stress-responsive FOXC1 transcription factor contributes to the earlier-onset glaucoma observed in Axenfeld-Rieger syndrome patients.

Ito YA, Goping IS, Berry F, Walter MA.

Cell Death Dis. 2014 Feb 20;5:e1069. doi: 10.1038/cddis.2014.8. Erratum in: Cell Death Dis. 2014;5:e1430.

10.

Clusterin deficiency in eyes with pseudoexfoliation syndrome may be implicated in the aggregation and deposition of pseudoexfoliative material.

Zenkel M, Kruse FE, Jünemann AG, Naumann GO, Schlötzer-Schrehardt U.

Invest Ophthalmol Vis Sci. 2006 May;47(5):1982-90.

PMID:
16639006
11.

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
12.

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.

PMID:
11740218
13.

A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld-Rieger syndrome.

Suzuki T, Takahashi K, Kuwahara S, Wada Y, Abe T, Tamai M.

Am J Ophthalmol. 2001 Oct;132(4):572-5.

PMID:
11589884
14.

Protein localization in the human eye and genetic screen of opticin.

Friedman JS, Faucher M, Hiscott P, Biron VL, Malenfant M, Turcotte P, Raymond V, Walter MA.

Hum Mol Genet. 2002 May 15;11(11):1333-42.

15.

Ocular pathology relevant to glaucoma in a Gja1(Jrt/+) mouse model of human oculodentodigital dysplasia.

Tsui E, Hill KA, Laliberte AM, Paluzzi D, Kisilevsky I, Shao Q, Heathcote JG, Laird DW, Kidder GM, Hutnik CM.

Invest Ophthalmol Vis Sci. 2011 Jun 1;52(6):3539-47. doi: 10.1167/iovs.10-6399.

PMID:
21273537
16.

Axenfeld-Rieger syndrome in the age of molecular genetics.

Alward WL.

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

PMID:
11004268
17.

The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development.

Mao M, Thedens DR, Chang B, Harris BS, Zheng QY, Johnson KR, Donahue LR, Anderson MG.

Mamm Genome. 2009 Aug;20(8):462-75. doi: 10.1007/s00335-009-9210-9. Epub 2009 Aug 8.

18.

Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?

Grosso S, Farnetani MA, Berardi R, Vivarelli R, Vanni M, Morgese G, Balestri P.

Am J Med Genet. 2002 Aug 1;111(2):182-6.

PMID:
12210347
19.

Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States.

Hauser MA, Sena DF, Flor J, Walter J, Auguste J, Larocque-Abramson K, Graham F, Delbono E, Haines JL, Pericak-Vance MA, Rand Allingham R, Wiggs JL.

J Glaucoma. 2006 Oct;15(5):358-63.

PMID:
16988596
20.

GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein.

Rozsa FW, Shimizu S, Lichter PR, Johnson AT, Othman MI, Scott K, Downs CA, Nguyen TD, Polansky J, Richards JE.

Mol Vis. 1998 Oct 6;4:20.

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