主题词1:表型相关性
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Genotype-phenotype correlations and phenotypic expansion in a case series of ReNU syndrome associated with RNU4-2 variants [0.03%] 与RNU4-2变异相关的ReNU综合征的基因型-表型相关性及表型扩展的病例系列研究
Yukiko Kuroda,Koki Nagai,Yasuhiro Kawai et al. Yukiko Kuroda et al.
RNU4-2 encodes U4 small nuclear RNA (snRNA), a non-coding RNA forming the spliceosome complex via the U4/U6 snRNA duplex. RNU4-2 heterozygous variants cause ReNU syndrome, which is characterised by intellectual disability, developmental del...
Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort [0.03%] 中国25例神经纤维瘤病家系的基因分析及大规模队列的基因型表型研究
Hongjun Fei,Xu Han,Yiyao Chen et al. Hongjun Fei et al.
Background: To identify the genetic variants underlying neurofibromatosis type 1 (NF1) and to investigate genotype-phenotype correlations. Methods: ...
Genetic and Phenotypic correlates of clinical outcomes with Venetoclax in Acute Myeloid Leukemia: The GEN-PHEN-VEN study [0.03%] 维奈克拉治疗急性髓系白血病的临床疗效相关的遗传和表型关联:GEN-PHEN-VEN 研究
Curtis A Lachowiez,Mael Heiblig,Gaspar Aspas Requena et al. Curtis A Lachowiez et al.
Resistance to venetoclax-based therapy in acute myeloid leukemia (AML) includes genetic (i.e., mutations in N/KRAS, FLT3-ITD, TP53) and phenotypic (i.e., monocytic differentiation) features. Whether monocytic differentiation contributes to ...
Genotype-Phenotype Correlations and Clinical Outcomes of Genetic TRPC6 Podocytopathies [0.03%] 遗传性TRPC6系肾小球损伤的基因型与表型及临床预后研究
Susan M McAnallen,Elhussein A E Elhassan,Sinead Stoneman et al. Susan M McAnallen et al.
Background and hypothesis: Podocytopathy associated with likely pathogenic/pathogenic variants of TRPC6 (TRPC6-AP) has been recognised for about 20 years. As a result of its rarity however, the spectrum of clinical phenot...
Tryptophan-kynurenine metabolites associate with inflammation and immunologic phenotypes in common variable immunodeficiency [0.03%] 色氨酸-犬尿酸代谢产物与常见联合免疫缺陷的炎症及免疫表型相关性研究
Silje F Jørgensen,Peder R Braadland,Thor Ueland et al. Silje F Jørgensen et al.
Background: A large proportion of patients with common variable immunodeficiency (CVID) have autoimmune and inflammatory manifestations characterized by chronic T-cell- and monocyte/macrophage activation of unknown etiolo...
A deletion at the X-linked ARHGAP36 gene locus is associated with the orange coloration of tortoiseshell and calico cats [0.03%] 染色体X连锁ARHGAP36基因位点的缺失与中华田园猫和玳瑁猫橘色花纹表型相关性研究
Hidehiro Toh,Wan Kin Au Yeung,Motoko Unoki et al. Hidehiro Toh et al.
The X-linked orange (O) locus in domestic cats controls an unknown molecular mechanism that causes the suppression of black-brownish pigmentation in favor of orange coloration. The alternating black-brownish and orange patches seen in torto...
Expanding genotype-phenotype correlation of Kenny-Caffey syndrome type 1 [0.03%] 肯尼-卡菲综合征1型的基因型表型相关性扩展研究
Manuela Lo Bianco,Federica Sipala,Xena Giada Pappalardo et al. Manuela Lo Bianco et al.
Genotype-phenotype correlations and resistance to colchicine in a familial Mediterranean fever cohort in southwestern Spain [0.03%] 西班牙南部地中海发热家系成员的基因型与表型相关性及其对秋水仙素的抵抗性
Carlos Hernández Quiles,Ana Casado Díaz,Aurora González Estrada et al. Carlos Hernández Quiles et al.
Correlation of enzyme activities and genotype with clinical manifestations in Chinese patients of different sexes with classical and late-onset Fabry disease [0.03%] 中国不同性别经典型和晚发型法布雷病患者酶活性及基因型与临床表型相关性研究
Wenkai Guo,Yuansheng Xie,Pengcheng Ji et al. Wenkai Guo et al.
Fabry disease, a rare genetic disorder affecting multiple organs, has understudied correlations among enzyme activity, genotype, and clinical manifestations in patients of different sexes with classical and late-onset phenotypes. In this st...
Clinical and Phenotypic Correlates of Mitral Valve Prolapse in Marfan Syndrome: The Cornell Aortic Aneurysm Registry [0.03%] 马凡综合征二尖瓣脱垂的临床和表型相关性:康奈尔主动脉瘤登记处的数据
Nupoor Narula,Yosef Schwartz,Richard B Devereux et al. Nupoor Narula et al.
Background: Mitral valve prolapse (MVP) is highly prevalent in Marfan syndrome (MFS), but its associations with significant valvular regurgitation, the need for mitral valve (MV) surgery or elective aortic root replacemen...
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