SRY

作品数：278被引量：698H指数：12
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相关领域：医药卫生更多>>
相关作者：曾溢滔黄英刘晓翌林秀坤崔英霞更多>>
相关机构：四川大学中国科学院上海市儿童医院北京大学深圳医院更多>>
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相关基金：国家自然科学基金国家高技术研究发展计划国家重点基础研究发展计划中国博士后科学基金更多>>
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What Impact on Phenotype for Patients with Karyotype 46, XX DSD SRY Positive at CHU Dantec in Senegal: About 5 Cases?
《Open Journal of Genetics》2023年第2期83-96,共14页Fatou Diop Gueye Arame Ndiaye Adji Dieynaba Diallo Mame Venus Gueye Ndiaga Diop Macoura Gadji Oumar Faye Mama Sy Diallo 
Background: In disorders of sexual differentiation, sexual development may not conform to the chromosomal structure, thus forming different types of abnormalities. Among these abnormalities is syndrome 46, XX DSD wher...
关键词：46 XX DSD SRY PHENOTYPE HYPERTROPHY 
Isodicentric Ychromosome: Case Study
《Open Journal of Genetics》2021年第3期56-62,共7页Amal Al Wathnani Suha Tashkandi Khelad Al Saidi Kholoud Al Muteiri Wasmaya Al Enezi 
Isodicentric chromosomes are a frequently appearing abnormality in the human Y chromosome. Making predictions regarding the phenotypic outcomes of a variety of duplications/deletions in the dicentric Y chromosome gene...
关键词：Isodicentric Y MOSAICISM Fluorescence in Situ Hybridization SRY G-Banded Karyotyping INFERTILITY 
SRY in an XX male does not influence random chromosome X inactivation: Cytogenetic evidence. Definition of the boundaries of the translocated Y segment through FISH and PCR-RT in a case report and review of the literature
《Open Journal of Genetics》2013年第2期27-32,共6页Mariano Stabile Vincenzo Altieri Rosa Salzillo Panfilo Marrollo Guglielmo Stabile Tina Iuorio Bianca Moscato 
We report a case of an SRY positive XX male. The phenotype was completely masculinised except for the reduced facial hair;testes were small, and azoospermia was present. The patient’s metaphases, coloured with acridi...
关键词：XX MALE SRY Translocation X-Y X CHROMOSOME INACTIVATION Y CHROMOSOME 
Pronuclear microinjection is not suitable for RNA polymerase III promoter driven constitutive RNAi transgenesis in mice for XY male-to-female sex reversal by <i>Sry</i>gene knockdown
《Open Journal of Genetics》2012年第1期62-69,共8页Masanori Ito 
Silencing of gene expression by RNA interference (RNAi) has become a widely used tool. For the study of mammalian gene function expression vectors for short hairpin RNA (shRNA) were developed. However the standard met...
关键词：Transgenic MICE Pronuclear MICROINJECTION RNA Interference 
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