نتایج جستجو برای: microphthalmia
تعداد نتایج: 1639 فیلتر نتایج به سال:
1866 to July, 1867.-Surgeon-General Sir 'William Guyer Hunter, M.D., F.R.C.S.E. July, 1867 to January, 1872.-Major J. H. Sylvester, M.R.C.S., F.G.C. January 28, 1872 to May 31, 1895.-Brigade Surgeon Lt.-Col. George Archibald Maconachie, M.D., C.M. (Aber.). June 1, 1895 to April 19, 1907.-Lt.-Col. H. Herbert, I.M.S. April 20, 1907 to February 28, 1914.-Lt.-Col. P. P. IKilkelly, M.B., I.M.S. Marc...
PURPOSE To screen ten genes for mutations in 32 Chinese patients with microphthalmia and/or coloboma. METHODS Genomic DNA was prepared from 32 unrelated patients with microphthalmia (nine probands) and uveal coloboma (23 probands). Cycle sequencing was used to detect sequence variations in ten genes, including BMP4, VSX2, CRYBA4, GDF6, OTX2, RAX, SIX3, SIX6, SOX2, and LRP6. Variations were fu...
Recently, Houghtaling et al1 reported that the Fanconi anemia (FA) group D2 knock-out (KO) mouse model presented novel phenotypes not observed in other FA mouse models reported (Fanca, Fancc, and Fancg); these included microphthalmia, perinatal lethality, and epithelial cancers. This prompted the authors to conclude that the Fancd2 / mice had important differences and to propose 2 models explai...
PURPOSE The role of SRY-Box 2 (SOX2) in anophthalmia/microphthalmia (A/M) is well known, with 10%-20% of A/M explained by mutations in SOX2. SOX2 plays roles in the development of both the posterior and anterior segment structures of the eye and relies on interactions with tissue-specific partner proteins to execute its function, raising the possibility that SOX2 mutations may result in varying...
We report a case of an isolated para-aortic retroperitoneal renal cell carcinoma (RCC) in the absence primary cancer kidney. Single reports literature have described extra-renal RCC different locations with no evidence tumor. present initial presentation, diagnostic imaging, surgical treatment, and pathologic evaluation. Immunohistochemistry demonstrated positivity for TFE3 TFEB, both which are...
Bilateral anophthalmia/microphthalmia represents a rare and severe form of structural eye malformation in different species and has also been observed in cattle (Bähr et al., 2003). Therefore we started to map possible candidate genes for anophthalmia/microphthalmia in cattle. The ceh-10 homeo domain containing homolog (C. elegans) (CHX10) gene is an essential component in the network of genes ...
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