MICROPHTHALMIA

作品数:8被引量:7H指数:2
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相关领域:医药卫生更多>>
相关作者:侯陵杨娟更多>>
相关机构:温州医学院更多>>
相关期刊:《Asian Journal of Urology》《Current Urology》《International Journal of Ophthalmology(English edition)》《Open Journal of Pediatrics》更多>>
相关基金:国家自然科学基金更多>>
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Genetic and environmental factors contributing to anophthalmia and microphthalmia:Current understanding and future directions
《World Journal of Clinical Pediatrics》2025年第2期9-29,共21页Shiwali Goyal Shailja Tibrewal Ria Ratna Vanita Vanita 
Anophthalmia is defined as a complete absence of one eye or both the eyes,while microphthalmia represents the presence of a small eye within the orbit.The estimated birth prevalence for anophthalmia is approximately 3...
关键词:ANOPHTHALMIA MICROPHTHALMIA Eye development SRY-Box 2 Orthodenticle homeobox 2 
Transcription factor E3 renal cell carcinoma presenting as secondary hypertension
《Current Urology》2023年第1期58-61,共4页Alain Mwamba Mukendi Gerald Tatenda Mataruka Ramesh Nadimpalli Tshisola Miji Kasapato 
Microphthalmia-associated transcription factor family(transcription factor E3 or transcription factor EB)translocation renal cell carcinomas(RCCs)are rare neoplasms.These renal neoplasms can be either asymptomatic and...
关键词:Hypertension Microphthalmia-associated transcription translocation Paraneoplastic syndrome Renal cell carcinoma South Africa TFE3 gene 
Difference of anterior and posterior orbital development in patients with congenital microphthalmia:a retrospective cohort study from China被引量:1
《International Journal of Ophthalmology(English edition)》2023年第3期411-417,共7页Ju Zhang Zhi-Jia Hou Jun-Fang Xian Qing-Lin Chang Dong-Mei Li 
AIM:To evaluate volume differences between anterior and posterior orbit and demographic characteristics of Chinese patients with congenital microphthalmia.METHODS:A retrospective cohort study,involving 169 unilateral ...
关键词:orbital measurement congenital microphthalmia tomography spiral computed 
Left-Sided Facial Defects in a Child with Goldenhar Syndrome at a Tertiary Facility in Nigeria
《Open Journal of Pediatrics》2022年第4期665-670,共6页Emmanuel U. Eyo-Ita Wilson O. Osarogiagbon Ifueko A. Eyo-Ita Aisha O. Suleiman 
We describe a female Nigerian infant of otherwise healthy parents with no prior history of congenital anomalies who was born with left-sided cleft lip and palate, left anophthalmia, malformed left auricle, an atrial s...
关键词:Cleft Lip/Palate Goldenhar Syndrome ANOPHTHALMIA Treacher Collins MICROPHTHALMIA MICROTIA 
Microphthalmia family of transcription factors associated renal cell carcinoma被引量:4
《Asian Journal of Urology》2019年第4期312-320,共9页Ling Xie Yifen Zhang Chin-Lee Wu 
The microphthalmia(MiT)subfamily of transcription factors includes TFE3,TFEB,TFEC,and MITF.In the 2016 World Health Organization classification,MiT family translocation renal cell carcinoma(tRCC)including Xp11 tRCC an...
关键词:MICROPHTHALMIA TFE3 TFEB MITF KIDNEY Renal cell carcinoma TRANSLOCATION 
Hallermann-Streiff syndrome with bilateral microphthalmia,pupillary membranes and cataract absorption被引量:2
《International Journal of Ophthalmology(English edition)》2017年第6期1016-1018,共3页Chun-Li Chen Jie Peng Xin-Guo Jia Zheng-Wei Liu Pei-Quan Zhao 
Supported by the National Natural Science Foundation of China(No.81271045;No.81470642);Shanghai Science and Technology Committee(No.15XD1502800)
We write to present a case report of Hallerrnann-Streiff syndrome (HSS; oculo-mandibulo-dyscephaly withhypotrichosis) with persistent pupillary membranes and cataract absorption.
关键词:view HSS 
Expression of Microphthalmia Transcription Factor in Sentinel Lymph Nodes of Patients with Melanoma
《Journal of Cancer Therapy》2011年第2期276-280,共5页Minia Hellan Michelle S. Gentile Luay Ailabouni George I. Salti 
Background: Sentinel lymph node biopsy is widely used in the management of melanoma patients. Multiple markers are used to stain sentinel lymph node tissue including S100, HMB-45 and melan A with different success. We...
关键词:MITF Lanoma SENTINEL LYMPH node 
Exclusive gene mapping of congenital microphthalmia in a Chinese family
《Chinese Science Bulletin》2006年第23期2868-2871,共4页YIN Yanan LI Hui YU Ping ZHOU Qiang ZHAO Luhang ZHANG Ya-Ping 
This work was supported by Science and Technology Committee of Yunnan Province;the National Natural Science Foundation of China(Grant No.30021004).
Congenital microphthalmia is a developmental ocular disorder and might be caused by the mutations in the genes involved in eye development. To uncover the genetic cause in a six-generation Chinese pedigree with autoso...
关键词:天生小眼畸形 基因映射 连接分析 医学技术 
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