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Results: 1 to 20 of 115

1.

The human BARX2 gene: genomic structure, chromosomal localization, and single nucleotide polymorphisms.

Hjalt TA, Murray JC.

Genomics. 1999 Dec 15;62(3):456-9.

PMID:
10644443
[PubMed - indexed for MEDLINE]
2.

Cloning and chromosomal localization of the human BARX2 homeobox protein gene.

Krasner A, Wallace L, Thiagalingam A, Jones C, Lengauer C, Minahan L, Ma Y, Kalikin L, Feinberg AP, Jabs EW, Tunnacliffe A, Baylin SB, Ball DW, Nelkin BD.

Gene. 2000 May 30;250(1-2):171-80.

PMID:
10854790
[PubMed - indexed for MEDLINE]
3.

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.

Vieira V, David G, Roche O, de la Houssaye G, Boutboul S, Arbogast L, Kobetz A, Orssaud C, Camand O, Schorderet DF, Munier F, Rossi A, Delezoide AL, Marsac C, Ricquier D, Dufier JL, Menasche M, Abitbol M.

Mol Vis. 2006 Dec 1;12:1448-60.

PMID:
17167399
[PubMed - indexed for MEDLINE]
Free Article
4.

Threading analysis of the Pitx2 homeodomain: predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis.

Banerjee-Basu S, Baxevanis AD.

Hum Mutat. 1999;14(4):312-9.

PMID:
10502778
[PubMed - indexed for MEDLINE]
5.

Rieger syndrome: a clinical, molecular, and biochemical analysis.

Amendt BA, Semina EV, Alward WL.

Cell Mol Life Sci. 2000 Oct;57(11):1652-66. Review.

PMID:
11092457
[PubMed - indexed for MEDLINE]
6.

The human glycine receptor beta subunit gene (GLRB): structure, refined chromosomal localization, and population polymorphism.

Milani N, Mülhardt C, Weber RG, Lichter P, Kioschis P, Poustka A, Becker CM.

Genomics. 1998 Jun 15;50(3):341-5.

PMID:
9676428
[PubMed - indexed for MEDLINE]
7.

Cloning, characterization, localization, and mutational screening of the human BARX1 gene.

Gould DB, Walter MA.

Genomics. 2000 Sep 15;68(3):336-42.

PMID:
10995576
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations.

Lines MA, Kozlowski K, Kulak SC, Allingham RR, Héon E, Ritch R, Levin AV, Shields MB, Damji KF, Newlin A, Walter MA.

Invest Ophthalmol Vis Sci. 2004 Mar;45(3):828-33.

PMID:
14985297
[PubMed - indexed for MEDLINE]
Free Article
10.

Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus.

Semina EV, Datson NA, Leysens NJ, Zabel BU, Carey JC, Bell GI, Bitoun P, Lindgren C, Stevenson T, Frants RR, van Ommen G, Murray JC.

Am J Hum Genet. 1996 Dec;59(6):1288-96.

PMID:
8940274
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.

Kulak SC, Kozlowski K, Semina EV, Pearce WG, Walter MA.

Hum Mol Genet. 1998 Jul;7(7):1113-7.

PMID:
9618168
[PubMed - indexed for MEDLINE]
Free Article
12.

Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.

Perveen R, Lloyd IC, Clayton-Smith J, Churchill A, van Heyningen V, Hanson I, Taylor D, McKeown C, Super M, Kerr B, Winter R, Black GC.

Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2456-60.

PMID:
10937553
[PubMed - indexed for MEDLINE]
Free Article
13.

Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.

Nishida K, Honma Y, Dota A, Kawasaki S, Adachi W, Nakamura T, Quantock AJ, Hosotani H, Yamamoto S, Okada M, Shimomura Y, Kinoshita S.

Am J Hum Genet. 1997 Dec;61(6):1268-75.

PMID:
9399908
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41.

Watanabe Y, Murray JC, Bjork BC, Bird CP, Chiang PW, Gregory SG, Kurnit DM, Schutte BC.

Hum Mutat. 2001 Nov;18(5):422-34.

PMID:
11668635
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
Free Article
16.

A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.

Watanabe H, Hashimoto-Uoshima M, Goseki-Sone M, Orimo H, Ishikawa I.

Oral Dis. 2001 Nov;7(6):331-5.

PMID:
11834095
[PubMed - indexed for MEDLINE]
17.

Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes.

Katz LA, Schultz RE, Semina EV, Torfs CP, Krahn KN, Murray JC.

Am J Med Genet A. 2004 Oct 15;130A(3):277-83.

PMID:
15378534
[PubMed - indexed for MEDLINE]
18.

Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alström syndrome.

Chen F, Collin GB, Liu KC, Beier DR, Eccles M, Nishina PM, Moshang T, Epstein JA.

Genomics. 2001 Jun 1;74(2):219-27.

PMID:
11386758
[PubMed - indexed for MEDLINE]
19.

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.

Am J Ophthalmol. 1998 Jan;125(1):98-100.

PMID:
9437321
[PubMed - indexed for MEDLINE]
20.

A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy.

Kniestedt C, Taralczak M, Thiel MA, Stuermer J, Baumer A, Gloor BP.

Ophthalmology. 2006 Oct;113(10):1791.e1-8. Epub 2006 Jul 31.

PMID:
16876867
[PubMed - indexed for MEDLINE]

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