Hereditas(Beijing) ›› 2022, Vol. 44 ›› Issue (10): 819-823.doi: 10.16288/j.yczz.22-312
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Received:2022-10-04Online:2022-10-20Published:2022-10-28
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| [1] | Zhang LW, Ruan MH, Liu JL, He CH, Yu JR. Progress on research and development in diabetes mellitus. Hereditas (Beijing), 2022, 44(10): 824-839. |
| 张丽雯, 阮梅花, 刘加兰, 贺彩红, 于建荣. 糖尿病领域研发态势分析. 遗传, 2022, 44(10): 824-839. | |
| [2] | Wang XY, Sun Y, Gao YQ. Advances in genetic mechanisms of hypothalamic dysfunction in Prader-Willi syndrome. Hereditas(Beijing), 2022, 44(10): 899-912. |
| 王心缘, 孙睿, 高原青. Prader-Willi综合征下丘脑功能障碍的遗传机制的研究进展. 遗传, 2022, 44(10): 899-912 | |
| [3] | Xiao C, Liu JY, Yang CR, Yu M. Advances in lipodystrophy syndrome caused by LMNA gene mutation. Hereditas(Beijing), 2022, 44(10): 913-925. |
| 肖诚, 刘洁颖, 杨春如, 于淼. LMNA基因突变相关脂肪萎缩综合征的研究进展. 遗传, 2022, 44(10): 913-925. | |
| [4] | Ye JY, Huang AJ, Fu ZZ, Gong YY, Yang HY, Zhou HW. A study of congenital generalized lipodystrophy (CGL) caused by BSCL2 gene mutation. Hereditas(Beijing), 2022, 44(10): 926-936. |
| 叶静雅, 黄爱洁, 付真真, 龚颖芸, 杨洪远, 周红文. BSCL2基因复合杂合突变导致先天性全身性脂肪萎缩的分子机制研究. 遗传, 2022, 44(10): 926-936. | |
| [5] | Wang SS, Zhao WY, Wu HX, Shu M, Yuan JX, Fang L, Xu C. Research on the variants of FGFR1 and CEP290genes in idiopathic hypogonadotropin hypogonadism. Hereditas (Beijing), 2022, 44(10): 937-949. |
| 王姗姗, 赵琬怡, 吴慧潇, 舒梦, 袁嘉欣, 方丽, 徐潮. 特发性低促性腺激素性性腺功能减退症FGFR1与CEP290基因变异研究. 遗传, 2022, 44(10): 937-949. | |
| [6] | Shen YT, Ling Y, Lu ZQ, Li XM, Bian H, Yan HM, Xia MF, Chang XX, Jiang JJ, Zhang J, Gao X. Diagnosis and genetic analysis of a case with Bardet-Biedl syndrome caused by compound heterozygous mutations in the BBS12 gene. Hereditas(Beijing), 2022, 44(10): 975-982. |
| 沈艳婷, 凌雁, 陆志强, 李晓牧, 卞华, 颜红梅, 夏明锋, 常新霞, 蒋晶晶, 张晶, 高鑫. 一例BBS12基因复合杂合突变导致Bardet-Biedl综合征的诊断和基因检测分析. 遗传, 2022, 44(10): 975-982. | |
| [7] | Yu JY, Chen T, Wang ZH, Zheng J, Zeng TS. Diagnosis, treatment and genetic analysis of a case of skin hyperpigmentation as the only manifestation with X-linked adrenoleukodystrophy. Hereditas(Beijing), 2022, 44(10): 983-989. |
| 余佳瑜, 陈婷, 王智华, 郑涓, 曾天舒. 一例以皮肤色素沉着为唯一临床表现的 X-连锁肾上腺脑白质营养不良的诊疗和基因检测分析. 遗传, 2022, 44(10): 983-989. | |
| [8] |
Jiajue RZ, Xiao C, Liu YW, Li R, Zhang HB, Yu M. Diagnosis, treatment and genetic analysis of two cases of congenital hyperinsulinemic hypoglycemia caused by GCK gene mutation. Hereditas(Beijing), 2022, doi: 10.16288/j.yczz.22-226.
doi: 10.16288/j.yczz.22-226 |
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贾觉睿智, 肖诚, 刘艺文, 李冉, 张化冰, 于淼. 二例GCK基因突变致先天性高胰岛素性低血糖症的诊疗和基因检测分析. 遗传, 2022, doi: 10.16288/j.yczz.22-226.
doi: 10.16288/j.yczz.22-226 |
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| [9] |
Jiang WZ, Xu YW, Wang YW, Zhu XC, Gong YY, Zhou HW, Fu ZZ. Diagnosis and genetic analysis of a case with glycogen storage disease type V caused by compound heterozygous mutations in the PYGM gene. Hereditas (Beijing), 2022, doi: 10.16288/j.yczz.22-223.
doi: 10.16288/j.yczz.22-223 |
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蒋琬姿, 徐昳文, 王依文, 朱肖诚, 龚颖芸, 周红文, 付真真. 一例PYGM基因复合杂合突变导致糖原累积症V型的诊断和基因检测分析. 遗传, 2022, doi: 10.16288/j. yczz.22-223.
doi: 10.16288/j.yczz.22-223 |
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| [10] |
Shen M, Gu Y, Ying CJ, Zhang M, Yang T, Chen Y. Diagnosis, treatment and genetic analysis of a case with fibrocalculous pancreatic diabetes. Hereditas(Beijing), 2022, doi: 10.16288/j.yczz.22-210.
doi: 10.16288/j.yczz.22-210 |
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沈敏, 顾愹, 应长江, 张梅, 杨涛, 陈阳. 一例胰腺纤维钙化性糖尿病的诊疗和基因检测分析. 遗传, 2022, doi: 10.16288/j.yczz.22-210.
doi: 10.16288/j.yczz.22-210 |
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| [11] |
Yang HJ, Li D, Bai HL, Zhang M, Huang J, Yuan XQ. Diagnosis, treatment and genetic analysis of a case of Alstrom syndrome caused by compoud heterozygous mutation of ALMS1. Hereditas(Beijing), 2022, doi: 10. 16288/j.yczz.22-217.
doi: 10. 16288/j.yczz.22-217 |
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杨慧杰, 李德, 白卉泠, 张铭, 黄俊, 袁小青.一例ALMS1基因复合杂合突变所致的Alstrom综合征的诊疗和基因检测分析. 遗传, 2022, doi: 10.16288/j.yczz. 22-217.
doi: 10. 16288/j.yczz.22-217 |
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| [12] |
Sun ZL, He JY, Cheng XL, Tan XX, Wu WH. Diagnosis, treatment and genetic analysis of a case of familial aldosteronism type Ⅱ with WFS1gene mutation. Hereditas(Beijing), 2022, doi: 10.16288/j.yczz.22-197.
doi: 10.16288/j.yczz.22-197 |
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孙致连, 何俊莹, 程筱玲, 谭晓霞, 吴伟华. 一例家族性醛固酮增多症Ⅱ型合并WFS1基因突变的诊疗和基因检测分析. 遗传, 2022, doi: 10.16288/j.yczz.22-197.
doi: 10.16288/j.yczz.22-197 |
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Song QQ, Zhang SS, Zhang Z, Sun J, Yang R, Li JT, Chen H. Mutation of CYP11B gene mutation in a patient with 11β-hydroxylase deficiency. Hereditas(Beijing), 2022, doi: 10.16288/j.yczz.22-115.
doi: 10.16288/j.yczz.22-115 |
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宋青青, 张素素, 张振, 孙嘉, 杨锐, 李佶桐, 陈宏. 一例CYP11B基因突变导致11β-羟化酶缺乏症的诊疗和基因检测分析. 遗传, 2022, doi: 10.16288/j.yczz.22-115.
doi: 10.16288/j.yczz.22-115 |
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| [14] |
Wang SQ, Chen Y, Luo KH, Shi NJ, Xiao KL, Cui ZH, Zeng TS, Li HQ. Diagnosis and genetic analysis of a case of Waardenburg syndrome type 2 with hypogonadotropic hypogonadism caused by SOX10 gene deletion. Hereditas(Beijing), 2022, doi: 10.16288/j.yczz.22-161.
doi: 10.16288/j.yczz.22-161 |
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王思琪, 陈阳, 罗宽宏, 史宁杰, 肖康丽, 崔振海, 曾天舒, 黎慧清.一例SOX10基因缺失所致的Waardenburg综合征2型合并低促性腺激素性性腺功能减退症的诊断和基因检测分析. 遗传, 2022, doi: 10.16288/j.yczz. 22-161.
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| [15] |
Wu DD, Li R, Li XN, Liu QQ, Dou LH. Diagnosis and genetic analysis of a case with mandibuloacral dysplasia type B due to compound heterozygous mutations of the ZMPSTE24gene. Hereditas(Beijing), 2022, doi: 10. 16288/j.yczz.22-117.
doi: 10. 16288/j.yczz.22-117 |
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吴丹丹, 李荣, 李晓南, 刘倩琦, 窦莉华. 一例ZMPSTE24基因复合杂合突变导致颅骨下颌骨皮肤发育不全B型的诊断和基因检测分析. 遗传, 2022, doi: 10. 16288/j.yczz.22-117.
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