نتایج جستجو برای: axenfeld
تعداد نتایج: 431 فیلتر نتایج به سال:
Identification of the first intragenic deletion of PITX2 gene causing an Axenfeld-RiegerSyndrome. Guillaume de la Houssaye, Ivan Bieche, Olivier Roche, Véronique Vieira, Ingrid Laurendeau, Laurence Arbogast, Hatem Zeghidi, Philippe Rapp, Philippe Halimi, Michel Vidaud, Maurice Menasche, Jean-Louis Dufier 1,3 & Marc Abitbol * 1 Centre de Recherche Thérapeutique en Ophtalmologie, EA n°2502, Facul...
The molecular mechanisms of PITX2 in tooth development and enamel defects in Axenfeld-Rieger Syndrome." PhD has been approved by the Examining Committee for the thesis requirement for the Doctor of Philosophy degree in Anatomy and Cell Biology at the December 2013 graduation. ii To my parents, Tianhua and Zhibin, for their endless love, support and encouragement. I would not have contemplated t...
PURPOSE To determine the possible molecular genetic defect underlying Axenfeld-Rieger anomaly (ARA) and to identify the pathogenic mutation causing this anterior segment dysgenesis in an Indian pedigree. METHODS The FOXC1 gene was amplified from genomic DNA of members of an ARA-affected family and control subjects using four novel sets of primers. The amplicons were directly sequenced, and th...
RATIONALE Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. PATIENT CONCERNS A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month. DIAGNOSES The patient was diagnosed as ARS with retinal detachment based on...
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