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首页> Human reproduction (Oxford, England)> High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function.

High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function.

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作者： I,Bestetti ^[1] ; C,Castronovo ^[2] ; A,Sironi ^[1] ; C,Caslini ^[1] ; C,Sala ^[2] ; R,Rossetti ^[2] ; M,Crippa ^[3] ; I,Ferrari ^[4] ; A,Pistocchi ^[1] ; D,Toniolo ^[2] ; L,Persani ^[4] ; A,Marozzi ^[2] ; P,Finelli ^[3]

作者单位： Istituto Auxologico Italiano, IRCCS, Lab of Medical Cytogenetics and Molecular Genetics, Milan, Italy. ^[1] Department of Medical Biotechnology and Translational Medicine, University of Milan, Segrate, Milan, Italy. ^[2] Division of Genetics and Cell Biology, San Raffaele Research Institute and Vita Salute University, Milan, Italy. ^[3] Istituto Auxologico Italiano, IRCCS, Division of Endocrine and Metabolic Diseases and Lab of Endocrine and Metabolic Research, Milan, Italy. ^[4] Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy. ^[5]

关键词 TP63 VLDLR array-CGH ovarian dysgenesis primary ovarian insufficiency

主题词青少年(Adolescent);发病年龄(Age of Onset);病例对照研究(Case-Control Studies);儿童(Child);比较基因组杂交(Comparative Genomic Hybridization);DNA拷贝数变异(DNA Copy Number Variations);数据库, 遗传学(Databases, Genetic);女(雌)性(Female);基因剂量(Gene Dosage);基因组, 人(Genome, Human);人类(Humans);绝经, 过早(Menopause, Premature);突变(Mutation);卵巢疾病(Ovarian Diseases);卵巢(Ovary);表型(Phenotype);原发性卵巢功能不全(Primary Ovarian Insufficiency);转录因子(Transcription Factors);肿瘤抑制蛋白质类(Tumor Suppressor Proteins)

DOI 10.1093/humrep/dey389

PMID 30689869

发布时间 2020-07-09

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Human reproduction (Oxford, England)

Human reproduction (Oxford, England)

2019年34卷3期

574-583页

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