نتایج جستجو برای: rieger syndrome
تعداد نتایج: 622129 فیلتر نتایج به سال:
Összefoglaló. Az Axenfeld–Rieger-szindróma ritka betegség. A közlemény bemutatja a klinikai megjelenési formáit, diagnosztikus és terápiás lehet?ségeket. szemgolyó elüls? szegmentumát érint? fejl?dési rendellenességek vizsgálata hagyományos biomikroszkópos vizsgálat mellett digitális kamerával is történhet, mely csarnokzugi képleteket nagy nagyításban, éles képet mutatva tudja megjeleníteni. sz...
Axenfeld-Rieger syndrome (ARS) (OMIM Nr.: 180500) is a rare autosomal dominant disorder (1 : 200000) with genetic and morphologic variability. Glaucoma is associated in 50% of the patients. Craniofacial and dental anomalies are frequently reported with ARS. The present study was designed as a multidisciplinary analysis of orthodontic, ophthalmologic, and genotypical features. A three-generation...
Results: The FISH results place DACH and Dach within well-characterized region of extensive homology between uman chromosome 13 and mouse chromosome 14 (Fig. 1). his region covers the distal portion of mouse chromosome 14 rom 41 to 70 cM (the telomere) and two-thirds of the long rm of human chromosome 13 from 13q14–q32 (data taken rom the human/mouse homology map, http://www.ncbi.nlmnih.gov/Hom...
Friedrich Scheiflinger Herbert Tilg, Alexander Moschen, Cox Terhorst and Rieger, Geert C. Mudde, Hartmut Ehrlich, Bernd Jilma, Cook, Josef Kovarik, Erica Magelky, Atul Bhan, Manfred Bhangal, Mei-Ching Yu, Charles D. Pusey, H. Terence Harald Kühnel, Jennifer Smith, John P. McDaid, Gurjeet Tam, Dirk Völkel, Patrice Douillard, Alexander Schinagl, Michael Thiele, Randolf J. Kerschbaumer, Frederick ...
Given any structure for the language of set theory and a permutation of its domain one obtains a new structure for the language of set theory. These are Rieger-Bernays models. Thus we have a surjection from the full symmetric group of the domain to a family of structures. Both groups and families-of-structures have natural topologies and it is natural to wonder what sensible things can be said ...
PURPOSE Electronic health record systems provide great opportunity to study most diseases. Objective of this study was to determine whether electronic medical records (EMR) in ophthalmology contribute to management of rare eye diseases, isolated or in syndromes. Study was designed to identify and collect patients' data with ophthalmology-specific EMR. METHODS Ophthalmology-specific EMR softwa...
PURPOSE Mutations in the forkhead transcription factor (FOXC1) gene have been shown to cause juvenile glaucoma associated with a variety of anterior-segment anomalies. The purpose of this study was to determine the ocular and genetic characteristics of two Japanese families with Axenfeld-Rieger syndrome (ARS). METHODS Genomic DNA was extracted from the leukocytes of six members of two familie...
PURPOSE Axenfeld Rieger syndrome (ARS) is an autosomal dominant inherited disorder affecting development of the ocular anterior chamber, abdomen, teeth and facial structures. The PITX2 gene is a major gene encoding a major transcription factor associated with ARS. METHODS ARS patients were collected from six unrelated families. Patients and their families were ophthalmologically phenotyped an...
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