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1 2 gene dose plays a central role in Axenfeld-Rieger syndrome.
2 in the PITX2 bicoid-like homeobox gene cause Rieger syndrome.
3 ally explain the phenotypic variation within Rieger syndrome.
4 t occur with aniridia or as part of Axenfeld-Rieger syndrome.
5 llele have eye abnormalities consistent with Rieger syndrome.
6 isms underlying the developmental defects in Rieger syndrome.
7  the Pitx2 homeobox gene have been linked to Rieger syndrome.
8  a panel of seven unrelated individuals with Rieger syndrome.
9 letal abnormalities observed in the Axenfeld-Rieger syndrome.
10 est, the patient was diagnosed with Axenfeld Rieger Syndrome.
11 , mutations have been identified in Axenfeld-Rieger syndrome, a disorder characterized by anterior se
12 main transcription factor that is mutated in Rieger syndrome, a haploinsufficiency disorder affecting
13 tified as the gene responsible for the human Rieger syndrome, an autosomal dominant condition that ca
14       Mutations in PITX2 cause some cases of Rieger syndrome, an autosomal dominant disorder affectin
15                                              Rieger syndrome, an autosomal dominant disorder, include
16  in the human PITX2 gene are responsible for Rieger syndrome, an autosomal dominant disorder.
17 he human Ptx2 homologue a candidate gene for Rieger syndrome, an autosomal-dominant disorder with var
18 al of the same organ systems are involved in Rieger syndrome and EDVI.
19 umbilical region development as evidenced by Rieger syndrome and iris hypoplasia phenotypes, resultin
20 protein is mutated in patients with Axenfeld-Rieger syndrome and is involved in the development of mu
21 es a better understanding of the etiology of Rieger syndrome and may extend to other PITX-sensitive d
22 in transcription factor that is defective in Rieger syndrome and shows a striking leftward developmen
23 inal PITX2 mutation associated with Axenfeld-Rieger syndrome (ARS) demonstrates reduced phosphorylati
24 at patients with FOXC1-attributable Axenfeld-Rieger Syndrome (ARS) have a prevalence of ciliopathy-as
25                                     Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant eye d
26 agement of glaucoma associated with Axenfeld-Rieger Syndrome (ARS) is poorly described in the literat
27                                     Axenfeld-Rieger syndrome (ARS) patients with PITX2 point mutation
28                       Patients with Axenfeld-Rieger Syndrome (ARS) present various dental abnormaliti
29  Mutations in PITX2 associated with Axenfeld-Rieger syndrome (ARS) provided the first link of this ho
30 r segment of the eye, most commonly Axenfeld-Rieger syndrome (ARS), often with other systemic feature
31 ations in PITX2 are associated with Axenfeld-Rieger syndrome (ARS), which involves ocular, dental, an
32 oma (MAC), corneal dystrophies, and Axenfeld-Rieger syndrome (ARS).
33 PITX2 mutations are associated with Axenfeld-Rieger syndrome (ARS).
34 anding of human conditions, such as Axenfeld-Rieger syndrome, caused by PITX2 and PITX3 gene variants
35                                          The Rieger syndrome causing PITX2 mutant T68P fails to induc
36 region where the autosomal dominant disorder Rieger syndrome has been previously mapped by linkage.
37 The pitx2 homeobox gene, which is mutated in Rieger syndrome, has been proposed to be the effector mo
38 red-related homeobox gene that is mutated in Rieger syndrome I, is the earliest known marker of oral
39 1 missense mutation observed in the Axenfeld-Rieger syndrome impairs Gli2-Foxc1 association as well a
40          Analysis of the residues mutated in Rieger syndrome indicates that many of these residues ar
41                                              Rieger syndrome is a genetically and phenotypically hete
42                                          The Rieger syndrome is an autosomal dominant disease charact
43                                              Rieger syndrome is an autosomal-dominant developmental d
44                                     Axenfeld-Rieger syndrome is an autosomal-dominant disorder caused
45                                              Rieger syndrome is an autosomal-dominant human disorder
46                             Because Axenfeld-Rieger syndrome is autosomal dominant and affects develo
47                                     Axenfeld-Rieger syndrome is caused by mutations in PITX2 or FOXC1
48 igree, we have identified a second locus for Rieger syndrome located on chromosome 13q14.
49 ted with iris hypoplasia (IH); in contrast a Rieger syndrome mutation, PITX2 T68P, which presents cli
50 tations were detectable in over 100 cases of Rieger syndrome or in individuals with related ocular di
51                A mutation (K88E), found in a Rieger syndrome patient, changes this lysine to glutamic
52                                              Rieger syndrome (RIEG) is an autosomal-dominant human di
53 omeobox gene involved in the pathogenesis of Rieger syndrome, RIEG1 , and its mouse homolog, Rieg1 .
54 ed to be a candidate gene for those cases of Rieger syndrome that cannot be associated with mutations
55 is the gene mutated in the haploinsufficient Rieger Syndrome type 1 that includes dental, ocular and