NSTL国家科技图书文献中心

1. Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy NSTL国家科技图书文献中心

Li, Huajin | Wei, Xing ... - 《Graefe's archive for clinical and experimental ophthalmology: Albrecht von Graefes Archiv fur klinische und experimentelle Opthalmologie》 - 2024,262(1) - 337～351 - 共15页 - 被引量：3

摘要：PurposeTo investigate the clinical and genetic characteristics for a large cohort of Chinese patients with Bietti crystalline retinopathy (BCR).MethodsA total of 208 Chinese BCR patients from 175 fami...

关键词： Bietti crystalline retinopathy | Phenotype | Clinical classification | CORNEO-RETINAL DYSTROPHY | CYP4V2 GENE | MUTATIONS | IDENTIFICATION | FAMILIES | PHENOTYPE

2. Systematic assessment of the contribution of structural variants to inherited retinal diseases NSTL国家科技图书文献中心

Wen, Shu | Wang, Meng ... - 《Human Molecular Genetics》 - 2023,32(12) - 2005～2015 - 共11页 - 被引量：6

摘要：Despite increasing success in determining genetic diagnosis for patients with inherited retinal diseases (IRDs), mutations in about 30% of the IRD cases remain unclear or unsettled after targeted gene...

关键词： DOMINANT RETINITIS-PIGMENTOSA | GENE PRPF31 | MUTATIONS | DELETION | FAMILY | GENOTYPE | SPECTRUM | PROTEIN | CNVS

3. Clinical characteristics and molecular genetics of complete androgen insensitivity syndrome patients: a series study of 30 cases from a Chinese tertiary medical center SCIE Web of Science核心 SCOPUS Scopus数据库 NSTL国家科技图书文献中心

Zhang, Duoduo | Yao, Fengxia ... - 《Fertility and Sterility: Official Journal of the American Fertility Society, Pacific Coast Fertility Society, and the Canadian Fertility and Andrology Society》 - 2021,115(5) - 1270～1279 - 共10页 - 被引量：3

摘要：Objective: To study the clinical characteristics and genetic basis of complete androgen insensitivity syndrome (CAIS) in patients from the People's Republic of China. CAIS patients with 46 XY karyotyp...

关键词： Disorder of sex development (DSD) | complete androgen insensitivity syndrome (CAIS) | androgen receptor (AR) | gene mutation | 5 alpha-reductase type 2 deficiency (SRD5A2)

4. Physiological and Nutritional Responses of 'HB' Pummelo [Citrus grandis (L.) Osbeck 'Hirado Buntan'] to the Combined Effects of Low pH Levels and Boron Deficiency SCIE Web of Science核心 NSTL国家科技图书文献中心

Zhou, Gaofeng | Li, Bixian ... - 《HortScience》 - 2020,55(4) - 449～456 - 共8页 - 被引量：1

摘要：Soil acidification and boron (B) starvation are two dominant abiotic stress factors impacting citrus production in the red soil region of southern China. To evaluate the combined effects of low pH and...

关键词： boron starvation | citrus | growth | nutrient concentration | soil acidification | visual deficiency symptom

5. miR-455 targets FABP4 to protect human endometrial stromal cells from cytotoxicity induced by hydrogen peroxide SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Tang, Wenbo | Chen, Oujing ... - 《Molecular medicine reports》 - 2019,20(6) - 4781～4790 - 共10页

摘要：Oxidative stress and dysregulation of antioxidant systems are associated with various complications in pregnancy. Endometriosis is a common gynecologic disease that affects women of reproductive age. ...

关键词： miR-455 | FABP4 | endometrial stromal cells | oxidative stress | H2O2

6. Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa SCIE Web of Science核心 SCOPUS Scopus数据库 NSTL国家科技图书文献中心

Zhang, Jiangwei | Yuan, Yuheng ... - 《Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function》 - 2017,627 - 149～156 - 共8页 - 被引量：9

摘要：Glycogen storage disease (GSD) type IXa is caused by PHKA2 mutation, which accounts for about 75% of all the GSD type IX cases. Here we first summarized the clinical data and analyzed the PHKA2 gene o...

关键词： Gene mutation | Glycogen storage disease type IX | PHKA2 gene | Phosphorylase kinase

7. Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Zhou, Qi | Yao, Fengxia ... - 《Experimental Eye Research》 - 2017,164 - 64～73 - 共10页 - 被引量：8

摘要：Choroidermia (CHM) is an X-linked chorioretinal disorder caused by mutations in the Rab Escort Protein 1 (Rep-1) gene. Its diagnosis depends on clinical findings and genetic confirmation; however, mut...

关键词： Rep1 | Copy number variation | Choroideremia | Chinese population

8. De novo Mutations in the Cone-rod Homeobox Gene Associated with Leber Congenital Amaurosis in Chinese Patients SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Zou, Xuan | Yao, Fengxia ... - 《Ophthalmic genetics》 - 2015,36(1) - 21～26 - 共6页 - 被引量：5

摘要：Background: The cone-rod homeobox (CRX)gene plays an important role in photoreceptor development. Recently, mutant alleles of the CRX gene have been associated with autosomal dominant Leber congenital...

关键词： Cone-rod homeobox | gene mutation | Leber congenital amaurosis

9. Genetic diversity in Chinese sorghum landraces revealed by chloroplast simple sequence repeats NSTL国家科技图书文献中心

Li, Ruyu | Zhang, Han ... - 《Genetic Resources and Crop Evolution》 - 2010,57(1) - 1～15 - 共15页

摘要：A collection of sorghum, including more than 12,000 Chinese landraces, has been constructed and maintained in China. However, the genetic diversity of Chinese sorghum landraces has not been fully inve...

关键词： Chloroplast | Genetic diversity | Kaoliang | Microsatellite | Origin | Sorghum bicolor

10. Successful management of cornual heterotopic pregnancy NSTL国家科技图书文献中心

Yao, Fengxiang | Gao, Haixia ... - 《Taiwanese journal of obstetrics and gynecology》 - 2024,63(1) - 135～136 - 共2页