METHOD FOR DIAGNOSING OR PREDICTING A NON SYNDROMIC AUTOSOMAL RECESSIVE OPTIC ATROPHY, OR A RISK OF A NON SYNDROMIC AUTOSOMAL RECESSIVE OPTIC ATROPHY.

• 1. 用于治疗非自体免疫性2型糖尿病和/或X综合征的化合物 [P] . 中国专利： CN101208351A . 2008-06-25
• 2. 用于预测对象患糖尿病和/或代谢综合征的风险或用于诊断对象中的代谢综合征的方法 [P] . 中国专利： CN103308670A . 2013-09-18
• 3. METHOD FOR DIAGNOSING OR PREDICTING A NON SYNDROMIC AUTOSOMAL RECESSIVE OPTIC ATROPHY, OR A RISK OF A NON SYNDROMIC AUTOSOMAL RECESSIVE OPTIC ATROPHY. [P] . 欧洲知识产权局专利： EP2411534B1 . 2016-06-01

  机译： 诊断或预测非综合征性自体屈光性视神经萎缩的方法，或非综合征性自体性屈光性视神经的风险。

• 4. METHOD FOR DIAGNOSING OR PREDICTING A NON SYNDROMIC AUTOSOMAL RECESSIVE OPTIC ATROPHY, OR A RISK OF A NON SYNDROMIC AUTOSOMAL RECESSIVE OPTIC ATROPHY. [P] . 世界知识产权组织专利： WO2010108926A1 . 2010-09-30

  机译： 诊断或预测非综合征性自体屈光性视神经萎缩的方法，或非综合征性自体性屈光性视神经的风险。

• 5. Method for Diagnosing or Predicting a Non Syndromic Autosomal Recessive Optic Atrophy, or a Risk of a Non Syndromic Autosomal Recessive Optic Atrophy [P] . 美国专利： US2016032382A1 . 2016-02-04

  机译： 诊断或预测非综合征性常染色体隐性视神经萎缩的方法或预测方法

• 1. Screening of WFS1 in autosomal recessive and dominant optic atrophies: mutation findings in non-syndromic optic atrophy and assessment of clinical severity [J] . Grenier Joanna, Daien Vincent, Hamel Christian P. Investigative ophthalmology & visual science . 2016,第12期
• 2. TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. [J] . Hanein S, Perrault I, Roche O, The American Journal of Human Genetics . 2009,第4期
• 3. Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports [J] . Katja Kloth, Matthis Synofzik, Christoph Kernstock, BMC Medical Genetics . 2019,第1期
• 4. Autosomal recessive ichthyosis in golden retriever dogs: distribution and frequency of the PNPLA1 mutant allele in different populations [C] . Eric Guaguere, Anne Thomast, Anais Grail, World Congress of Veterinary Dermatology . 2013
• 5. In search of a novel autosomal recessive cause of non syndromic intellectual disability. [D] . Saleh, Shamsah H. 2015
• 6. Diabetes mellitus diabetes insipidus and optic atrophy. An autosomal recessive syndrome? [O] . F C Fraser, T Gunn 1977
• 7. Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome? [O] . Fraser, F C, Gunn, T 1977

• 1. Autosomal recessive 333 base pair interleukin 10 receptor alpha subunit deletion in very early-onset inflammatory bowel disease [J] . Jia-Jia Lv ,Wen Su ,Xiao-Yan Chen . 世界胃肠病学杂志:英文版 . 2021,第44期
• 2. Tesevatinib ameliorates progression of polycystic kidney disease in rodent models of autosomal recessive polycystic kidney disease [J] . William E Sweeney ,Philip Frost ,Ellis D Avner . 世界肾病学杂志：英文版 . 2017,第4期
• 3. Changing insights in the diagnosis and classification of autosomal recessive and dominant von Willebrand diseases 1980-2015 [J] . Jan Jacques Michiels ,Angelika Batorova ,Tatiana Prigancova . 世界血液学杂志 . 2016,第3期
• 4. Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing era [J] . Christina Votsi ,Kyproula Christodoulou . 世界神经病学杂志 . 2013,第4期
• 5. Investigation of Four Genes Responsible for Autosomal Recessive Congenital Cataract and Highly Expressed in the Brain in Four Unrelated Tunisian Families [J] . Manèl Chograni ,Myriam Chaabouni ,Faouzi Maazoul . 眼科学期刊（英文） . 2012,第3期
• 6. 广州地区非综合征性聋儿家庭的耳聋基因诊断研究 [C] . 唐盈 ,周艺 ,卢航 . 中华医学会第十届全国计划生育学学术会议 . 2014
• 7. 非睫状肌麻痹摄影验光筛查儿童屈光性弱视相关因素的可行性研究 [A] . 李荣荣 . 2013