نتایج جستجو برای: optic dysplasia
تعداد نتایج: 73407 فیلتر نتایج به سال:
Transfrontal Optic Canal Decompression to Treat Visual Involvement in Craniofacial Fibrous Dysplasia
KAL1 is implicated in 5% of Kallmann syndrome cases, a disorder which genotypically overlaps with septo-optic dysplasia (SOD). To date, a reporter-based assay to assess the functional consequences of KAL1 mutations is lacking. We aimed to develop a luciferase assay for novel application to functional assessment of rare KAL1 mutations detected in a screen of 422 patients with SOD. Quantitative a...
The atonal homolog 7 (ATOH7) gene encodes a transcription factor involved in determining the fate of retinal progenitor cells and is particularly required for optic nerve and ganglion cell development. Using a combination of autozygosity mapping and next generation sequencing, we have identified homozygous mutations in this gene, p.E49V and p.P18RfsX69, in two consanguineous families diagnosed ...
CONTEXT Fibroblast growth factor (FGF) 8 is important for GnRH neuronal development with human mutations resulting in Kallmann syndrome. Murine data suggest a role for Fgf8 in hypothalamo-pituitary development; however, its role in the etiology of wider hypothalamo-pituitary dysfunction in humans is unknown. OBJECTIVE The objective of this study was to screen for FGF8 mutations in patients wi...
Received July 26, 2013, Revised September 11, 2013, Accepted for publication September 26, 2013 Corresponding author: Tae Yoon Kim, Department of Dermatology, The Catholic University of Korea, Seoul St. Mary’s Hospital, 222 Banpodaero, Seocho-gu, Seoul 137-701, Korea. Tel: 82-2-593-2626, Fax: 82-2-3482-8261, E-mail: [email protected] This is an Open Access article distributed under the te...
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