Works matching DE "AXENFELD-Rieger syndrome"
Results: 51
Axenfeld-Rieger syndrome: a case report.
- Published in:
- Journal of Orthodontics, 2015, v. 42, n. 4, p. 324, doi. 10.1179/1465313315Y.0000000017
- By:
- Publication type:
- Article
Axenfeld-Rieger Syndrome in a Pakistani Family.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Axenfeld-Rieger Syndrome in a Pakistani Family.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Macular Edema in Branch Retinal Vein Occlusion: Treat or Wait?
- Published in:
- Eye Care Review, 2008, v. 2, n. 5, p. 34
- By:
- Publication type:
- Article
Dysmyelination of the Cerebral White matter with Microdeletion at 6p25.
- Published in:
- Indian Pediatrics, 2011, v. 48, n. 9, p. 727
- By:
- Publication type:
- Article
Axenfeld-Rieger Syndrome: Dentofacial Manifestation and Oral Rehabilitation Considerations.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
Axenfeld-Rieger Syndrome and a Post-Trabeculectomy Presentation of Angle Closure.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Novel Identification of a Four-base-pair Deletion Mutation in PITX2 in a Rieger Syndrome Family.
- Published in:
- Journal of Dental Research, 2003, v. 82, n. 12, p. 1008, doi. 10.1177/154405910308201214
- By:
- Publication type:
- Article
Girl has bilaterally increased IOP, abnormal pupils.
- Published in:
- Ocular Surgery News, 2010, v. 28, n. 14, p. 26
- By:
- Publication type:
- Article
Rieger's Anomaly and Other Ocular Abnormalities in Association with Osteogenesis Imperfecta and a COL1A1 Mutation.
- Published in:
- Ophthalmic Genetics, 2005, v. 26, n. 3, p. 135, doi. 10.1080/13816810500228993
- By:
- Publication type:
- Article
Occurrence and pattern of ocular disease in children with cholestatic disorders.
- Published in:
- Acta Ophthalmologica (1755375X), 2011, v. 89, n. 2, p. 143, doi. 10.1111/j.1755-3768.2009.01671.x
- By:
- Publication type:
- Article
Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201–203.
- Published in:
- 2009
- By:
- Publication type:
- Letter
A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.
- Published in:
- PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0160016
- By:
- Publication type:
- Article
PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0124409
- By:
- Publication type:
- Article
Novel occurrence of Axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.
- Published in:
- Indian Journal of Ophthalmology, 2014, v. 62, n. 3, p. 358, doi. 10.4103/0301-4738.121144
- By:
- Publication type:
- Article
Unusual presentation in Axenfeld-Rieger syndrome.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
Axenfeld–Rieger Syndrome (ARS): A review and case report.
- Published in:
- Special Care in Dentistry, 2010, v. 30, n. 5, p. 218, doi. 10.1111/j.1754-4505.2010.00153.x
- By:
- Publication type:
- Article
A rare clinical presentation of Axenfeld-Rieger syndrome: case report.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Axenfeld‐Rieger syndrome.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome.
- Published in:
- Clinical Genetics, 2014, v. 86, n. 5, p. 469, doi. 10.1111/cge.12414
- By:
- Publication type:
- Article
PIK3R1 mutations in SHORT syndrome.
- Published in:
- Clinical Genetics, 2014, v. 86, n. 3, p. 292, doi. 10.1111/cge.12263
- By:
- Publication type:
- Article
Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 5, p. 464, doi. 10.1111/j.1399-0004.2007.00879.x
- By:
- Publication type:
- Article
PITX2 and FOXC1 spectrum of mutations in ocular syndromes.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1224, doi. 10.1038/ejhg.2012.80
- By:
- Publication type:
- Article
Clinical utility gene card for: Axenfeld-Rieger syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.163
- By:
- Publication type:
- Article
Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1527, doi. 10.1038/ejhg.2009.93
- By:
- Publication type:
- Article
Axenfeld-Rieger syndrome in monozygotic twin brothers: Case report.
- Published in:
- Northern Clinics of Istanbul, 2022, v. 9, n. 4, p. 411, doi. 10.14744/nci.2021.89577
- By:
- Publication type:
- Article
The Tale of a Belly Button: Rieger Syndrome.
- Published in:
- Clinical Pediatrics, 2006, v. 45, n. 5, p. 453, doi. 10.1177/0009922806289623
- By:
- Publication type:
- Article
OLOGEN implant in the management of glaucoma in an unusual case of Axenfeld-Rieger Syndrome.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Clinical course during 40-year follow-up of Axenfeld-Rieger syndrome in a Japanese family.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Morphology of the sella turcica in Axenfeld–Rieger syndrome with PITX2 mutation.
- Published in:
- Journal of Oral Pathology & Medicine, 2008, v. 37, n. 8, p. 504, doi. 10.1111/j.1600-0714.2008.00650.x
- By:
- Publication type:
- Article
Congenital hypothyroidism in Axenfeld-Rieger syndrome.
- Published in:
- Eastern Journal of Medicine, 2017, v. 22, n. 4, p. 208, doi. 10.5505/ejm.2017.07269
- By:
- Publication type:
- Article
What's Your Diagnosis?
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2007, v. 44, n. 6, p. 333, doi. 10.3928/01913913-20071101-11
- Publication type:
- Article
Familial Ectopia Lentis With Axenfeld--Rieger Anomaly.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2007, v. 44, n. 1, p. 59, doi. 10.3928/01913913-20070101-13
- By:
- Publication type:
- Article
Surgical Repair of a Blocked Pupil in Rieger's Anomaly.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2003, v. 40, n. 1, p. 33, doi. 10.3928/0191-3913-20030101-10
- By:
- Publication type:
- Article
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
- Published in:
- Nature Genetics, 2009, v. 41, n. 9, p. 1037, doi. 10.1038/ng.422
- By:
- Publication type:
- Article
Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.
- Published in:
- Current Eye Research, 2018, v. 43, n. 11, p. 1334, doi. 10.1080/02713683.2018.1493129
- By:
- Publication type:
- Article
Pediatric glaucoma suspects.
- Published in:
- Clinical Ophthalmology, 2014, v. 8, p. 1139, doi. 10.2147/OPTH.S61682
- By:
- Publication type:
- Article
Magnetic resonance imaging findings in Axenfeld-Rieger syndrome.
- Published in:
- Clinical Ophthalmology, 2013, v. 7, p. 911, doi. 10.2147/OPTH.S42933
- By:
- Publication type:
- Article
Expression of the transcription factors Otlx2, Barx1 and Sox9 during mouse odontogenesis.
- Published in:
- European Journal of Oral Sciences, 1998, v. 106, p. 112, doi. 10.1111/j.1600-0722.1998.tb02161.x
- By:
- Publication type:
- Article
New horizons in congenital glaucoma surgery.
- Published in:
- 2018
- By:
- Publication type:
- Editorial
Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
- Published in:
- Acta Ophthalmologica (1755375X), 2016, v. 94, n. 7, p. e571, doi. 10.1111/aos.13030
- By:
- Publication type:
- Article
A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay.
- Published in:
- Cytogenetic & Genome Research, 2017, v. 151, n. 1, p. 5, doi. 10.1159/000456695
- By:
- Publication type:
- Article
PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT).
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Anaesthetic challenges in a patient with Axenfeld Rieger Syndrome.
- Published in:
- 2012
- By:
- Publication type:
- Letter
Axenfeld-Rieger syndrome associated with truncus arteriosus: a case report.
- Published in:
- Turkish Journal of Pediatrics, 2007, v. 49, n. 4, p. 444
- By:
- Publication type:
- Article
THE ROLE OF PITX2 IN ANTERIOR SEGMENT DYSGENESIS IN MOUNTAIN HORSE BREEDS.
- Published in:
- Ohio Journal of Science, 2008, v. 108, n. 1, p. A-27
- By:
- Publication type:
- Article
Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
pitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish.
- Published in:
- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0030896
- By:
- Publication type:
- Article